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<!--
|
||
UID=20552
|
||
ConceptID=C0035335
|
||
-->
|
||
<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1452/bin/retinoblastoma-Image001.gif" src-large="/books/NBK1452/bin/retinoblastoma-Image001.jpg" /></a><br /><a href="/books/NBK1452/figure/retinoblastoma.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Retinoblastoma<span class="h1sub">(RB1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20552</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0035335</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Eye cancer, retinoblastoma; RB1; RETINOBLASTOMA, SOMATIC</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Retinoblastoma (370967009); Retinoblastoma - morphology (19906005); Retinoblastoma (19906005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="RB1 - ID: 5925 - NCBI Gene" href="/gene/5925" class="medgenPMinfo">RB1</a> (13q14.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0009919">HP:0009919</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008380" target="_blank">MONDO:0008380</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/180200" target="_blank">180200</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=790">ORPHA790</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1452" target="_blank">Retinoblastoma</a></div><div>Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is associated with susceptibility for retinoblastoma as well as non-ocular tumors. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1452#retinoblastoma.Summary" target="NBK1452">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1452#retinoblastoma.Diagnosis" target="NBK1452">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1452#retinoblastoma.Clinical_Characteristics" target="NBK1452">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1452#retinoblastoma.Genetically_Related_Allel" target="NBK1452">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1452#retinoblastoma.Differential_Diagnosis" target="NBK1452">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1452#retinoblastoma.Management" target="NBK1452">Management</a> | <a class="medgenPMinfo" href="/books/NBK1452#retinoblastoma.Genetic_Counseling" target="NBK1452">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1452#retinoblastoma.Resources" target="NBK1452">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1452#retinoblastoma.Molecular_Genetics" target="NBK1452">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1452#retinoblastoma.Chapter_Notes" target="NBK1452">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1452#retinoblastoma.References" target="NBK1452">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Dietmar R Lohmann | Brenda L Gallie <a href="/books/NBK1452" target="NBK1452" title="NCBI Bookshelf: Retinoblastoma">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (189971) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000). <a target="_blank" href="http://www.omim.org/entry/180200">http://www.omim.org/entry/180200</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color.<br /><br />In children with retinoblastoma, the disease often affects only one eye. However, one out of three children with retinoblastoma develops cancer in both eyes. The most common first sign of retinoblastoma is a visible whiteness in the pupil called "cat's eye reflex" or leukocoria. This unusual whiteness is particularly noticeable in dim light or in photographs taken with a flash. Other signs and symptoms of retinoblastoma include crossed eyes or eyes that do not point in the same direction (strabismus), which can cause squinting; a change in the color of the colored part of the eye (iris); redness, soreness, or swelling of the eyelids; and blindness or poor vision in the affected eye or eyes.<br /><br />Retinoblastoma is often curable when it is diagnosed early. However, if it is not treated promptly, this cancer can spread beyond the eye to other parts of the body. This advanced form of retinoblastoma can be life-threatening.<br /><br />When retinoblastoma is associated with a genetic change (mutation) that occurs in all of the body's cells, it is known as hereditary (or germinal) retinoblastoma. People with this form of retinoblastoma typically develop cancer in both eyes and also have an increased risk of developing several other cancers outside the eye. Specifically, they are more likely to develop a cancer of the pineal gland in the brain (pineoblastoma), a type of bone cancer known as osteosarcoma, cancers of soft tissues (such as muscle) called soft tissue sarcomas, and an aggressive form of skin cancer called melanoma. <a target="_blank" href="https://medlineplus.gov/genetics/condition/retinoblastoma">https://medlineplus.gov/genetics/condition/retinoblastoma</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_9725"><div><strong>Leukemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9725</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0023418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/9725">Feature record</a> | <a href="/medgen?term=%22Leukemia%22%5BClinical%20Features%5D%20OR%209725%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_44223"><div><strong>Lymphoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44223</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0024299</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/44223">Feature record</a> | <a href="/medgen?term=%22Lymphoma%22%5BClinical%20Features%5D%20OR%2044223%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_10501"><div><strong>Osteosarcoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10501</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0029463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/10501">Feature record</a> | <a href="/medgen?term=%22Osteosarcoma%22%5BClinical%20Features%5D%20OR%2010501%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_20552"><div><strong>Retinoblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20552</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0035335</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is associated with susceptibility for retinoblastoma as well as non-ocular tumors.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/20552">Feature record</a> | <a href="/medgen?term=%22Retinoblastoma%22%5BClinical%20Features%5D%20OR%2020552%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_107816"><div><strong>Ewing sarcoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107816</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0553580</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to be related because they have similar genetic causes. These types of Ewing sarcoma can be distinguished from one another by the tissue in which the tumor develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma describes tumors in the soft tissues around bones, such as cartilage. pPNETs occur in nerve tissue and can be found in many parts of the body. A type of pPNET found in the chest is called Askin tumor.\n\nEwing sarcomas most often occur in children and young adults. Affected individuals usually feel stiffness, pain, swelling, or tenderness of the bone or surrounding tissue. Sometimes, there is a lump near the surface of the skin that feels warm and soft to the touch. Often, children have a fever that does not go away. Ewing sarcoma of bone can cause weakening of the involved bone, and affected individuals may have a broken bone with no obvious cause.\n\nIt is common for Ewing sarcoma to spread to other parts of the body (metastasize), usually to the lungs, to other bones, or to the bone marrow.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/107816">Feature record</a> | <a href="/medgen?term=%22Ewing%20sarcoma%22%5BClinical%20Features%5D%20OR%20107816%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_19315"><div><strong>Pinealoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19315</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0031941</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">A neoplasm of the pineal gland.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/19315">Feature record</a> | <a href="/medgen?term=%22Pinealoma%22%5BClinical%20Features%5D%20OR%2019315%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_756015"><div><strong>Cleft palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756015</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2981150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/756015">Feature record</a> | <a href="/medgen?term=%22Cleft%20palate%22%5BClinical%20Features%5D%20OR%20756015%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_12119"><div><strong>Vitreous hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12119</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0042909</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
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<div class="spaceAbove">Bleeding within the vitreous compartment of the eye.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/12119">Feature record</a> | <a href="/medgen?term=%22Vitreous%20hemorrhage%22%5BClinical%20Features%5D%20OR%2012119%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_57540"><div><strong>Leukocoria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57540</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0152458</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormal white reflection from the pupil rather than the usual black reflection.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/57540">Feature record</a> | <a href="/medgen?term=%22Leukocoria%22%5BClinical%20Features%5D%20OR%2057540%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_68620"><div><strong>Vitritis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68620</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0235812</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/68620">Feature record</a> | <a href="/medgen?term=%22Vitritis%22%5BClinical%20Features%5D%20OR%2068620%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_357948"><div><strong>Retinal calcification</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357948</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1867289</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Deposition of calcium salts in the retina.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/357948">Feature record</a> | <a href="/medgen?term=%22Retinal%20calcification%22%5BClinical%20Features%5D%20OR%20357948%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_756015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft palate</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukocoria</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_357948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal calcification</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12119" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitreous hemorrhage</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68620" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitritis</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19315" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pinealoma</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107816" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ewing sarcoma</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9725" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukemia</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44223" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphoma</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10501" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteosarcoma</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20552" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinoblastoma</a></span></li></ul></li></ul></div></div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/6192" ref="tree=GTR&ncbi_uid=6192&link_uid=6192" title="View MedGen record for 'Malignant tumor of retina'">Malignant tumor of retina</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/83291" ref="tree=GTR&ncbi_uid=83291&link_uid=83291" title="View MedGen record for 'Retina lymphoma'">Retina lymphoma</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/163431" ref="tree=GTR&ncbi_uid=163431&link_uid=163431" title="View MedGen record for 'Retinal melanoma'">Retinal melanoma</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0035335[DISCUI]&test_type=Clinical" ref="ncbi_uid=20552">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=20552" target="_blank" href="/omim/180200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1452/" ref="ncbi_uid=20552">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=20552" ref="ncbi_uid=20552">V</a></span></span><span class="TLline">Retinoblastoma</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/5092" ref="tree=MeSH" title="MedGen record for Disorder of eye">Disorder of eye</a></span><ul><li><span class="TLline"><a href="/medgen/41933" ref="tree=MeSH" title="MedGen record for Hereditary eye diseases">Hereditary eye diseases</a></span><ul><li><span class="matched_ds">Retinoblastoma</span><ul><li><span class="TLline"><a href="/medgen/163163" ref="tree=MeSH" title="MedGen record for bilateral retinoblastoma">bilateral retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/83171" ref="tree=MeSH" title="MedGen record for Differentiated Retinoblastoma">Differentiated Retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/226854" ref="tree=MeSH" title="MedGen record for Diffuse Retinoblastoma">Diffuse Retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/75861" ref="tree=MeSH" title="MedGen record for Extraocular retinoblastoma">Extraocular retinoblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/230837" ref="tree=MeSH" title="MedGen record for Pediatric extraocular retinoblastoma">Pediatric extraocular retinoblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/155869" ref="tree=MeSH" title="MedGen record for Hereditary retinoblastoma">Hereditary retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/78874" ref="tree=MeSH" title="MedGen record for Intraocular retinoblastoma">Intraocular retinoblastoma</a></span><ul><li><span class="TLline"><a href="/medgen/230836" ref="tree=MeSH" title="MedGen record for Pediatric intraocular retinoblastoma">Pediatric intraocular retinoblastoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1842255" ref="tree=MeSH" title="MedGen record for Non-hereditary retinoblastoma">Non-hereditary retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/82965" ref="tree=MeSH" title="MedGen record for Recurrent Retinoblastoma">Recurrent Retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/1646804" ref="tree=MeSH" title="MedGen record for Retinoblastoma by AJCC v8 Stage">Retinoblastoma by AJCC v8 Stage</a></span><ul><li><span class="TLline"><a href="/medgen/1635691" ref="tree=MeSH" title="MedGen record for Retinoblastoma by AJCC v8 Clinical Stage">Retinoblastoma by AJCC v8 Clinical Stage</a></span><ul><li><span class="TLline"><a href="/medgen/1633239" ref="tree=MeSH" title="MedGen record for Clinical Stage I Retinoblastoma AJCC v8">Clinical Stage I Retinoblastoma AJCC v8</a></span></li><li><span class="TLline"><a href="/medgen/1645404" ref="tree=MeSH" title="MedGen record for Clinical Stage II Retinoblastoma AJCC v8">Clinical Stage II Retinoblastoma AJCC v8</a></span></li><li><span class="TLline"><a href="/medgen/1636283" ref="tree=MeSH" title="MedGen record for Clinical Stage III Retinoblastoma AJCC v8">Clinical Stage III Retinoblastoma AJCC v8</a></span></li><li><span class="TLline"><a href="/medgen/1647002" ref="tree=MeSH" title="MedGen record for Clinical Stage IV Retinoblastoma AJCC v8">Clinical Stage IV Retinoblastoma AJCC v8</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1638974" ref="tree=MeSH" title="MedGen record for Retinoblastoma by AJCC v8 Pathologic Stage">Retinoblastoma by AJCC v8 Pathologic Stage</a></span><ul><li><span class="TLline"><a href="/medgen/1636469" ref="tree=MeSH" title="MedGen record for Pathologic Stage I Retinoblastoma AJCC v8">Pathologic Stage I Retinoblastoma AJCC v8</a></span></li><li><span class="TLline"><a href="/medgen/1642239" ref="tree=MeSH" title="MedGen record for Pathologic Stage II Retinoblastoma AJCC v8">Pathologic Stage II Retinoblastoma AJCC v8</a></span></li><li><span class="TLline"><a href="/medgen/1639729" ref="tree=MeSH" title="MedGen record for Pathologic Stage III Retinoblastoma AJCC v8">Pathologic Stage III Retinoblastoma AJCC v8</a></span></li><li><span class="TLline"><a href="/medgen/1640675" ref="tree=MeSH" title="MedGen record for Pathologic Stage IV Retinoblastoma AJCC v8">Pathologic Stage IV Retinoblastoma AJCC v8</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/155870" ref="tree=MeSH" title="MedGen record for Sporadic Retinoblastoma">Sporadic Retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/392856" ref="tree=MeSH" title="MedGen record for Trilateral retinoblastoma">Trilateral retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/137788" ref="tree=MeSH" title="MedGen record for Undifferentiated Retinoblastoma">Undifferentiated Retinoblastoma</a></span></li><li><span class="TLline"><a href="/medgen/208929" ref="tree=MeSH" title="MedGen record for Unilateral retinoblastoma">Unilateral retinoblastoma</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=122&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Retinoblastoma</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_20552"><div><strong>Retinoblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20552</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0035335</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is associated with susceptibility for retinoblastoma as well as non-ocular tumors.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20552">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_108437"><div><strong>Bone osteosarcoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108437</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0585442</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108437">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462652"><div><strong>Chromosome 13q14 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462652</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3151302</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (180200), variable degrees of mental impairment, and characteristic facial features, including high forehead, prominent philtrum, and anteverted earlobes (summary by Caselli et al., 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462652">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_108437" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone osteosarcoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462652" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 13q14 deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_20552" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinoblastoma</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38674436">Principles in the Management of Glioblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roda D,
|
||
Veiga P,
|
||
Melo JB,
|
||
Carreira IM,
|
||
Ribeiro IP</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2024 Apr 17;15(4)
|
||
doi: 10.3390/genes15040501.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38674436" target="_blank">38674436</a><a href="/pmc/articles/PMC11050118" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35732101">Diagnosis and treatment of Merkel cell carcinoma: European consensus-based interdisciplinary guideline - Update 2022.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gauci ML,
|
||
Aristei C,
|
||
Becker JC,
|
||
Blom A,
|
||
Bataille V,
|
||
Dreno B,
|
||
Del Marmol V,
|
||
Forsea AM,
|
||
Fargnoli MC,
|
||
Grob JJ,
|
||
Gomes F,
|
||
Hauschild A,
|
||
Hoeller C,
|
||
Harwood C,
|
||
Kelleners-Smeets N,
|
||
Kaufmann R,
|
||
Lallas A,
|
||
Malvehy J,
|
||
Moreno-Ramirez D,
|
||
Peris K,
|
||
Pellacani G,
|
||
Saiag P,
|
||
Stratigos AJ,
|
||
Vieira R,
|
||
Zalaudek I,
|
||
van Akkooi ACJ,
|
||
Lorigan P,
|
||
Garbe C,
|
||
Lebbé C;
|
||
European Dermatology Forum (EDF), the European Association of Dermato-Oncology (EADO) and the European Organization for Research and Treatment of Cancer (EORTC)</span><br />
|
||
<span class="medgenPMjournal">Eur J Cancer</span>
|
||
2022 Aug;171:203-231.
|
||
Epub 2022 Jun 19
|
||
doi: 10.1016/j.ejca.2022.03.043.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35732101" target="_blank">35732101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33120616">Modern treatment of retinoblastoma: A 2020 review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ancona-Lezama D,
|
||
Dalvin LA,
|
||
Shields CL</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2020 Nov;68(11):2356-2365.
|
||
doi: 10.4103/ijo.IJO_721_20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33120616" target="_blank">33120616</a><a href="/pmc/articles/PMC7774148" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22retinoblastoma%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (645)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21150892">Clinical utility gene card for: retinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lohmann D,
|
||
Gallie B,
|
||
Dommering C,
|
||
Gauthier-Villars M</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 Mar;19(3)
|
||
Epub 2010 Dec 8
|
||
doi: 10.1038/ejhg.2010.200.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21150892" target="_blank">21150892</a><a href="/pmc/articles/PMC3061998" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34987197">Retinoblastoma and vision.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Warda O,
|
||
Naeem Z,
|
||
Roelofs KA,
|
||
Sagoo MS,
|
||
Reddy MA</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2023 Apr;37(5):797-808.
|
||
Epub 2022 Jan 5
|
||
doi: 10.1038/s41433-021-01845-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34987197" target="_blank">34987197</a><a href="/pmc/articles/PMC10050411" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34648817">Cavitary retinoblastoma: A review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raval V,
|
||
Kaliki S</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2022 May-Jun;67(3):723-728.
|
||
Epub 2021 Oct 11
|
||
doi: 10.1016/j.survophthal.2021.10.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34648817" target="_blank">34648817</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33583507">Neonatal Retinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin FY,
|
||
Chintagumpala MM</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2021 Mar;48(1):53-70.
|
||
doi: 10.1016/j.clp.2020.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33583507" target="_blank">33583507</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28558178">Retinoblastoma: Update on Current Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cassoux N,
|
||
Lumbroso L,
|
||
Levy-Gabriel C,
|
||
Aerts I,
|
||
Doz F,
|
||
Desjardins L</span><br />
|
||
<span class="medgenPMjournal">Asia Pac J Ophthalmol (Phila)</span>
|
||
2017 May-Jun;6(3):290-295.
|
||
doi: 10.22608/APO.201778.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28558178" target="_blank">28558178</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5279523">Mutation and cancer: statistical study of retinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knudson AG Jr</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
1971 Apr;68(4):820-3.
|
||
doi: 10.1073/pnas.68.4.820.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5279523" target="_blank">5279523</a><a href="/pmc/articles/PMC389051" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinoblastoma%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4096)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35731655">Retinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peeler CE,
|
||
Gonzalez E</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2022 Jun 23;386(25):2412.
|
||
doi: 10.1056/NEJMicm2118356.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35731655" target="_blank">35731655</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33120616">Modern treatment of retinoblastoma: A 2020 review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ancona-Lezama D,
|
||
Dalvin LA,
|
||
Shields CL</span><br />
|
||
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<div class="nl"><a target="_blank" href="/pubmed/38431272">Management of retinoblastoma: are we there yet?</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinoblastoma%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4119)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/38897313">Safety of intravitreal chemotherapy in the management of retinoblastoma: A systematic review of the literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lavasidis G,
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Strongylis M,
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Tzamalis A,
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Tsinopoulos I,
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2024 Aug;200:104423.
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Epub 2024 Jun 17
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doi: 10.1016/j.critrevonc.2024.104423.
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<span class="bold">PMID: </span><a href="/pubmed/38897313" target="_blank">38897313</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38492584">A systematic review of economic evaluation of artificial intelligence-based screening for eye diseases: From possibility to reality.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wu H,
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Jin K,
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Yip CC,
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Koh V,
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Ye J</span><br />
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<span class="medgenPMjournal">Surv Ophthalmol</span>
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2024 Jul-Aug;69(4):499-507.
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Epub 2024 Mar 15
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doi: 10.1016/j.survophthal.2024.03.008.
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||
<span class="bold">PMID: </span><a href="/pubmed/38492584" target="_blank">38492584</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/35457041">Vitamin D and Ocular Diseases: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chan HN,
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Zhang XJ,
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Ling XT,
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Bui CH,
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Wang YM,
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Ip P,
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Chu WK,
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Tham CC,
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Yam JC,
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2022 Apr 11;23(8)
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<span class="bold">PMID: </span><a href="/pubmed/35457041" target="_blank">35457041</a><a href="/pmc/articles/PMC9032397" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30530431">The genetics of cutaneous squamous cell carcinogenesis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Campos MA,
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Lopes JM,
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Soares P</span><br />
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<span class="medgenPMjournal">Eur J Dermatol</span>
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2018 Oct 1;28(5):597-605.
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doi: 10.1684/ejd.2018.3403.
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<span class="bold">PMID: </span><a href="/pubmed/30530431" target="_blank">30530431</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22232079">Malignant melanoma as second malignant neoplasm in long-term childhood cancer survivors: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Braam KI,
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Overbeek A,
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Kaspers GJ,
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Ronckers CM,
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Schouten-van Meeteren AY,
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Van Dulmen-Den Broeder E,
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<span class="medgenPMjournal">Pediatr Blood Cancer</span>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinoblastoma%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (60)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
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|
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|
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|
||
|
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</div>
|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0035335%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (56)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035335%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035335%5bDISCUI%5d&filter=method%3A3%5F23" target="_blank">FISH-interphase (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035335%5bDISCUI%5d&filter=method%3A3%5F24" target="_blank">FISH-metaphase (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035335%5bDISCUI%5d&filter=method%3A3%5F31" target="_blank">Fluorescence in situ hybridization (FISH) (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035335%5bDISCUI%5d&filter=method%3A2%5F13" target="_blank">Linkage analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035335%5bDISCUI%5d&filter=method%3A2%5F15" target="_blank">Methylation analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035335%5bDISCUI%5d&filter=method%3A%5F" target="_blank">Multicolor FISH (M-FISH)/Spectral Karyotyping™ (SKY™) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035335%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035335%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035335%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035335%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035335%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (55)</a></li>
|
||
<li><a href="/gtr/tests?term=C0035335%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0035335%5bDISCUI%5d" target="_blank">See all (81)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=180200" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=790" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Retinoblastoma" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22retinoblastoma%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Retinoblastoma%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="/pmc/articles/PMC3061998/">EuroGenetest, 2010</a><div>Clinical utility gene card for: Retinoblastoma</div></li></ul></div>
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<div class="ralinkpop offscreen_noflow">Homo sapiens RB transcriptional corepressor 1 (RB1), RefSeqGene (LRG_517) on chromosome 13<div class="brieflinkpopdesc">gi|213021180|ref|NG_009009.1||gnl|L G_517</div></div>
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