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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>PDQ Cancer Information Summaries [Internet]. Bethesda (MD): National Cancer Institute (US); 2002-. </p></div><div class="iconblock clearfix whole_rhythm no_top_margin bk_noprnt"><a class="img_link icnblk_img" title="Table of Contents Page" href="/books/n/pdqcis/"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-pdqcis-lrg.png" alt="Cover of PDQ Cancer Information Summaries" height="100px" width="80px" /></a><div class="icnblk_cntnt eight_col"><h2>PDQ Cancer Information Summaries [Internet].</h2><a data-jig="ncbitoggler" href="#__NBK598339_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK598339_dtls__"><div>Bethesda (MD): <a href="http://www.cancer.gov/" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">National Cancer Institute (US)</a>; 2002-.</div></div><div class="half_rhythm"></div><div class="bk_noprnt"><form method="get" action="/books/n/pdqcis/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search this book" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search this book" submit="false" style="padding: 0.1em 0.4em;" /></div></form></div></div></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK598339_"><span class="title" itemprop="name">RUNX1-Familial Platelet Disorder (PDQ®)</span></h1><div class="subtitle whole_rhythm">Health Professional Version</div><p class="contrib-group"><span itemprop="author">PDQ Cancer Genetics Editorial Board</span>.</p><p class="small">Published online: December 14, 2023.</p><p class="small">Created: <span itemprop="datePublished">December 14, 2023</span>.</p></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="_abs_rndgid_" itemprop="description"><p id="CDR0000813233__2824">This PDQ cancer information summary for health professionals provides comprehensive, peer-reviewed, evidence-based information about the genetics of RUNX1-FPD. It is intended as a resource to inform and assist clinicians in the care of their patients. It does not provide formal guidelines or recommendations for making health care decisions.</p><p id="CDR0000813233__2825">This summary is reviewed regularly and updated as necessary by the PDQ Cancer Genetics Editorial Board, which is editorially independent of the National Cancer Institute (NCI). The summary reflects an independent review of the literature and does not represent a policy statement of NCI or the National Institutes of Health (NIH).</p></div><div id="CDR0000813233__3751"><h2 id="_CDR0000813233__3751_">Introduction and Clinical Manifestations of <i>RUNX1</i>–Familial Platelet Disorder (<i>RUNX1</i>-FPD) </h2><p id="CDR0000813233__3770">
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||
[<i>Note: A concerted effort is being made within the genetics community to use the term, <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000776887/" class="def">variant</a> rather than the term, <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000046063/" class="def">mutation</a> to describe genetic differences in the <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460154/" class="def">germline</a>. These variants can then be further classified as benign (harmless), likely benign, of <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000556495/" class="def">uncertain significance</a>, likely pathogenic, or <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000783960/" class="def">pathogenic</a> (disease causing). Throughout this summary, we will use the term, pathogenic variant to describe a <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460144/" class="def">disease-causing mutation</a>. In this summary, the term, <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000046586/" class="def">somatic mutations</a> will be used to describe acquired genetic changes that arise in the hematopoietic system (blood stem cells and blood progenitor cells). For more information about variant classification, see the <a href="/books/n/pdqcis/CDR0000517309/">Cancer Genetics Overview</a> summary.</i>]
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</p><p id="CDR0000813233__3756">RUNX1 (Runt-related <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000390290/" class="def">transcription</a> factor 1) is a key transcription factor involved in hematopoietic differentiation, and it is one of the most commonly mutated <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000045693/" class="def">genes</a> in myeloid malignancies.[<a class="bk_pop" href="#CDR0000813233_rl_3751_1">1</a>]</p><p id="CDR0000813233__3757"><a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000809371/" class="def">Inherited</a> pathogenic variants in the <i>RUNX1</i> gene lead to an <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000793860/" class="def">autosomal dominant</a>
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<a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000754220/" class="def">hereditary cancer syndrome</a> called <i>RUNX1</i>-<a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460148/" class="def">familial</a> platelet disorder (<i>RUNX1</i>-FPD) (also referred to as FPD with a propensity towards myeloid malignancies [FPD/MM] or acute myeloid leukemia [FPD/AML]).[<a class="bk_pop" href="#CDR0000813233_rl_3751_2">2</a>] Familial platelet functional defects have been clinically recognized for several decades.[<a class="bk_pop" href="#CDR0000813233_rl_3751_3">3</a>] In 1999, <i>RUNX1</i> was the first gene found to be associated with FPD/MM. <i>RUNX1</i>-FPD was the first germline predisposition syndrome associated with myeloid malignancies. In 2016, the World Health Organization (WHO) incorporated germline <i>RUNX1 </i>pathogenic variants under a newly created subcategory of myeloid neoplasms called, “myeloid neoplasms with germline predisposition and preexisting platelet disorders.”[<a class="bk_pop" href="#CDR0000813233_rl_3751_4">4</a>] The WHO's inclusion of <i>RUNX1</i>-FPD in its classification guidelines has increased public awareness of this disorder.</p><p id="CDR0000813233__3758">Germline <i>RUNX1 </i>pathogenic variants leading to <i>RUNX1</i>-FPD are associated with the following:[<a class="bk_pop" href="#CDR0000813233_rl_3751_5">5</a>]</p><ul id="CDR0000813233__3759"><li class="half_rhythm"><div>Lifetime mild to moderate thrombocytopenia associated with aspirin-like functional platelet defects.</div></li><li class="half_rhythm"><div>Approximately a 44% lifetime risk of developing myelodysplastic syndrome (MDS), AML, or T-cell acute lymphoblastic leukemia (T-ALL).</div></li></ul><p id="CDR0000813233__3760">Although these are the most commonly reported hematologic cancers seen in individuals with <i>RUNX1</i>-FPD, other cancers have also been reported, including B-cell malignancies and myeloproliferative neoplasms.[<a class="bk_pop" href="#CDR0000813233_rl_3751_6">6</a>-<a class="bk_pop" href="#CDR0000813233_rl_3751_9">9</a>] There is a high <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000339344/" class="def">penetrance</a> of thrombocytopenia and underlying platelet dysfunction in individuals with <i>RUNX1</i>-FPD. Thrombocytopenia is often recognized during childhood, although it has <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000339331/" class="def">variable expressivity</a>, even within affected families. Hematologic malignancies are diagnosed at a median age of 33 years. However, the reported age range for an MDS or leukemia diagnosis is broad (range, 5 y to 76 y).[<a class="bk_pop" href="#CDR0000813233_rl_3751_5">5</a>] <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000660750/" class="def">Genetic anticipation</a> (which can lead to disease manifestations occurring at earlier ages in successive generations) has also been described in <i>RUNX1</i>-FPD.[<a class="bk_pop" href="#CDR0000813233_rl_3751_9">9</a>,<a class="bk_pop" href="#CDR0000813233_rl_3751_10">10</a>]</p><p id="CDR0000813233__3761">More than 200 families with germline <i>RUNX1 </i>pathogenic variants have been described in the literature.[<a class="bk_pop" href="#CDR0000813233_rl_3751_11">11</a>] However, it is estimated that 5,515 families with <i>RUNX1 </i>pathogenic variants exist worldwide, based on population incidence and a survey conducted by FPD/AML centers of excellence.[<a class="bk_pop" href="#CDR0000813233_rl_3751_12">12</a>] Importantly, a <i>RUNX1</i> database (RUNX1db) and registry is now available as a public resource.[<a class="bk_pop" href="#CDR0000813233_rl_3751_13">13</a>] <i> RUNX1</i> somatic mutations have been detected in approximately 10% of AML cases, and the vast majority of these variants are somatic in nature. However, some studies have suggested that in an AML cohort, as many as 16% of <i>RUNX1 </i> mutations that were identified by somatic testing could be germline in nature.[<a class="bk_pop" href="#CDR0000813233_rl_3751_14">14</a>,<a class="bk_pop" href="#CDR0000813233_rl_3751_15">15</a>]</p><p id="CDR0000813233__3762">Phenotypic criteria proposed by the ClinGen Myeloid Malignancy Variant Curation Expert Panel (MM-VCEP) state that an individual should exhibit at least one of the following to fit the FPD/AML phenotype:[<a class="bk_pop" href="#CDR0000813233_rl_3751_12">12</a>]</p><ol id="CDR0000813233__3763"><li class="half_rhythm"><div>Mild to moderate thrombocytopenia with normal platelet size and volume (in the absence of other causative factors like autoimmune- or drug-related thrombocytopenias).</div></li><li class="half_rhythm"><div>Platelet ultra-structural and/or functional defects, including platelet alpha granule secretion defects, platelet dense granule secretion defects, and impaired platelet aggregation. </div></li><li class="half_rhythm"><div>Diagnosis of a hematologic malignancy (most commonly affecting the myeloid lineage and manifesting as AML or MDS, or less frequently involving the lymphoid lineage and manifesting as T-ALL or other cancers). </div></li></ol><p id="CDR0000813233__3764">In addition to thrombocytopenia and hematologic malignancies, <i>RUNX1</i>-FPD may also be associated with the following features: eczema, psoriasis, arthritis, and other autoimmune disorders.[<a class="bk_pop" href="#CDR0000813233_rl_3751_11">11</a>]</p><div id="CDR0000813233_rl_3751"><h3>References</h3><ol><li><div class="bk_ref" id="CDR0000813233_rl_3751_1">Schnittger S, Dicker F, Kern W, et al.: RUNX1 mutations are frequent in de novo AML with noncomplex karyotype and confer an unfavorable prognosis. Blood 117 (8): 2348-57, 2011. [<a href="https://pubmed.ncbi.nlm.nih.gov/21148331" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21148331</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3751_2">Johns Hopkins University: Online Mendelian Inheritance in Man: Platelet Disorder, Familial, with Associated Myeloid Malignancy; FPDMM. Johns Hopkins University, 2014. <a href="https://www.omim.org/entry/601399" ref="pagearea=cite-ref&targetsite=external&targetcat=link&targettype=uri">Available online.</a> Last accessed October 4, 2023.</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3751_3">Weiss HJ, Chervenick PA, Zalusky R, et al.: A familialdefect in platelet function associated with imapired release of adenosine diphosphate. N Engl J Med 281 (23): 1264-70, 1969. [<a href="https://pubmed.ncbi.nlm.nih.gov/5349805" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 5349805</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3751_4">Arber DA, Orazi A, Hasserjian R, et al.: The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 127 (20): 2391-405, 2016. [<a href="https://pubmed.ncbi.nlm.nih.gov/27069254" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27069254</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3751_5">Feurstein S, Drazer MW, Godley LA: Genetic predisposition to leukemia and other hematologic malignancies. Semin Oncol 43 (5): 598-608, 2016. [<a href="https://pubmed.ncbi.nlm.nih.gov/27899193" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27899193</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3751_6">Owen CJ, Toze CL, Koochin A, et al.: Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood 112 (12): 4639-45, 2008. [<a href="https://pubmed.ncbi.nlm.nih.gov/18723428" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18723428</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3751_7">Linden T, Schnittger S, Groll AH, et al.: Childhood B-cell precursor acute lymphoblastic leukaemia in a patient with familial thrombocytopenia and RUNX1 mutation. Br J Haematol 151 (5): 528-30, 2010. [<a href="https://pubmed.ncbi.nlm.nih.gov/20880108" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20880108</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3751_8">Shiba N, Hasegawa D, Park MJ, et al.: CBL mutation in chronic myelomonocytic leukemia secondary to familial platelet disorder with propensity to develop acute myeloid leukemia (FPD/AML). Blood 119 (11): 2612-4, 2012. [<a href="https://pubmed.ncbi.nlm.nih.gov/22138511" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22138511</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3751_9">DiFilippo EC, Coltro G, Carr RM, et al.: Spectrum of abnormalities and clonal transformation in germline RUNX1 familial platelet disorder and a genomic comparative analysis with somatic RUNX1 mutations in MDS/MPN overlap neoplasms. Leukemia 34 (9): 2519-2524, 2020. [<a href="https://pubmed.ncbi.nlm.nih.gov/32060405" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32060405</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3751_10">Duarte BKL, Yamaguti-Hayakawa GG, Medina SS, et al.: Longitudinal sequencing of RUNX1 familial platelet disorder: new insights into genetic mechanisms of transformation to myeloid malignancies. Br J Haematol 186 (5): 724-734, 2019. [<a href="https://pubmed.ncbi.nlm.nih.gov/31124578" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31124578</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3751_11">Brown AL, Arts P, Carmichael CL, et al.: RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML. Blood Adv 4 (6): 1131-1144, 2020. [<a href="/pmc/articles/PMC7094007/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7094007</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32208489" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32208489</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3751_12">Luo X, Feurstein S, Mohan S, et al.: ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. Blood Adv 3 (20): 2962-2979, 2019. [<a href="/pmc/articles/PMC6849945/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6849945</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31648317" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31648317</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3751_13">Homan CC, King-Smith SL, Lawrence DM, et al.: The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy. Haematologica 106 (11): 3004-3007, 2021. [<a href="/pmc/articles/PMC8561292/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8561292</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34233450" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34233450</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3751_14">Simon L, Spinella JF, Yao CY, et al.: High frequency of germline RUNX1 mutations in patients with RUNX1-mutated AML. Blood 135 (21): 1882-1886, 2020. [<a href="https://pubmed.ncbi.nlm.nih.gov/32315381" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32315381</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3751_15">Ernst MPT, Kavelaars FG, Löwenberg B, et al.: RUNX1 germline variants in RUNX1-mutant AML: how frequent? Blood 137 (10): 1428-1431, 2021. [<a href="https://pubmed.ncbi.nlm.nih.gov/33075818" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33075818</span></a>]</div></li></ol></div></div><div id="CDR0000813233__3753"><h2 id="_CDR0000813233__3753_">Genetics and Molecular Biology of <i>RUNX1</i>-Familial Platelet Disorder (FPD)</h2><p id="CDR0000813233__3767">Many of the <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460154/" class="def">germline</a>
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<i>RUNX1</i>
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<a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000783960/" class="def">pathogenic variants</a> seem to be unique to <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460211/" class="def">probands</a> or families.[<a class="bk_pop" href="#CDR0000813233_rl_3753_1">1</a>] The majority of <i>RUNX1</i> germline pathogenic <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000776887/" class="def">variants</a> described in the literature are inherited, and <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000783882/" class="def">de novo</a> germline <i>RUNX1</i> variants have been rarely reported.[<a class="bk_pop" href="#CDR0000813233_rl_3753_2">2</a>-<a class="bk_pop" href="#CDR0000813233_rl_3753_4">4</a>] The following types of germline pathogenic variants have been reported in the <i>RUNX1</i>
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<a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000045693/" class="def">gene</a>: <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000783964/" class="def">missense variants</a>, <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000783965/" class="def">nonsense variants</a>, <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000783968/" class="def">splice-site variants</a>, <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000803525/" class="def">single nucleotide variants</a>, small <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000781204/" class="def">insertions</a>, small <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460141/" class="def">deletions</a>, and <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000600383/" class="def">copy number variants</a> (including intragenic and whole-gene deletions).[<a class="bk_pop" href="#CDR0000813233_rl_3753_3">3</a>,<a class="bk_pop" href="#CDR0000813233_rl_3753_5">5</a>,<a class="bk_pop" href="#CDR0000813233_rl_3753_6">6</a>] Pathogenic variants can happen at any location along the <i>RUNX1</i> gene, but these variants are most often located within the conserved runt-homology <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460145/" class="def">domain</a> (RHD) or the transactivation domain (TAD).[<a class="bk_pop" href="#CDR0000813233_rl_3753_7">7</a>]</p><p id="CDR0000813233__3768"><a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000339333/" class="def">Genomic heterogeneity</a> (in terms of somatic clonal evolution) is common, even among asymptomatic individuals with germline <i>RUNX1</i> pathogenic variants.[<a class="bk_pop" href="#CDR0000813233_rl_3753_7">7</a>-<a class="bk_pop" href="#CDR0000813233_rl_3753_9">9</a>] More than 80% of evaluated individuals with <i>RUNX1</i>-FPD demonstrate clonal evolution by age 50 years. Secondary <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000781854/" class="def">somatic mutations</a> in genes involved in <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000717443/" class="def">epigenetic</a> regulation (i.e., <i>TET2</i> and <i>DNMT3A</i>) comprise most <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000046063/" class="def">mutations</a> identified in individuals with <i>RUNX1</i>-FPD who are undergoing <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000496506/" class="def">surveillance</a>. These secondary mutations are commonly associated with age-related clonal hematopoiesis. Many individuals with <i>RUNX1</i>-FPD–associated hematologic malignancies have evidence of <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000270737/" class="def">cytogenetic</a> abnormalities (e.g., <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460223/" class="def">trisomy</a> 21, trisomy 8, monosomy 7). These individuals can also have secondary somatic mutations in active signaling pathways (i.e., RAS pathway, KIT pathway) or in <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000046657/" class="def">tumor suppressor genes</a> (i.e., <i>WT1</i>, <i>PHF6</i>, <i>TP53</i>). Individuals can also have additional somatic mutations in the <i>RUNX1</i> gene.[<a class="bk_pop" href="#CDR0000813233_rl_3753_10">10</a>] </p><p id="CDR0000813233__3769">Notably, baseline morphological and immunophenotypic abnormalities are often present in the bone marrow of asymptomatic individuals with <i>RUNX1</i>-FPD who do not have myelodysplastic syndrome (MDS)/acute myeloid leukemia.[<a class="bk_pop" href="#CDR0000813233_rl_3753_11">11</a>,<a class="bk_pop" href="#CDR0000813233_rl_3753_12">12</a>] These abnormalities can include low-for-age bone marrow cellularity and dysplastic megakaryopoiesis, which is often characterized by small, hypolobated megakaryocytes. When mild dysplasia is already present, it can be a challenge to define when an individual's condition progresses to MDS.</p><div id="CDR0000813233_rl_3753"><h3>References</h3><ol><li><div class="bk_ref" id="CDR0000813233_rl_3753_1">Sood R, Kamikubo Y, Liu P: Role of RUNX1 in hematological malignancies. Blood 129 (15): 2070-2082, 2017. [<a href="/pmc/articles/PMC5391618/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5391618</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28179279" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28179279</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3753_2">Feurstein S, Luo X, Shah M, et al.: Revision of RUNX1 variant curation rules. Blood Adv 6 (16): 4726-4730, 2022. [<a href="/pmc/articles/PMC9631670/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9631670</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35764482" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35764482</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3753_3">Luo X, Feurstein S, Mohan S, et al.: ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. Blood Adv 3 (20): 2962-2979, 2019. [<a href="/pmc/articles/PMC6849945/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6849945</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31648317" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31648317</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3753_4">Feurstein S, Drazer MW, Godley LA: Genetic predisposition to leukemia and other hematologic malignancies. Semin Oncol 43 (5): 598-608, 2016. [<a href="https://pubmed.ncbi.nlm.nih.gov/27899193" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27899193</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3753_5">Béri-Dexheimer M, Latger-Cannard V, Philippe C, et al.: Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. Eur J Hum Genet 16 (8): 1014-8, 2008. [<a href="https://pubmed.ncbi.nlm.nih.gov/18478040" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18478040</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3753_6">Ouchi-Uchiyama M, Sasahara Y, Kikuchi A, et al.: Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets. Pediatr Blood Cancer 62 (12): 2082-8, 2015. [<a href="https://pubmed.ncbi.nlm.nih.gov/26175287" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26175287</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3753_7">Brown AL, Arts P, Carmichael CL, et al.: RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML. Blood Adv 4 (6): 1131-1144, 2020. [<a href="/pmc/articles/PMC7094007/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7094007</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32208489" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32208489</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3753_8">Churpek JE, Pyrtel K, Kanchi KL, et al.: Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia. Blood 126 (22): 2484-90, 2015. [<a href="/pmc/articles/PMC4661171/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4661171</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/26492932" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26492932</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3753_9">DiFilippo EC, Coltro G, Carr RM, et al.: Spectrum of abnormalities and clonal transformation in germline RUNX1 familial platelet disorder and a genomic comparative analysis with somatic RUNX1 mutations in MDS/MPN overlap neoplasms. Leukemia 34 (9): 2519-2524, 2020. [<a href="https://pubmed.ncbi.nlm.nih.gov/32060405" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32060405</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3753_10">Preudhomme C, Renneville A, Bourdon V, et al.: High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. Blood 113 (22): 5583-7, 2009. [<a href="https://pubmed.ncbi.nlm.nih.gov/19357396" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19357396</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3753_11">Chisholm KM, Denton C, Keel S, et al.: Bone Marrow Morphology Associated With Germline RUNX1 Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy. Pediatr Dev Pathol 22 (4): 315-328, 2019. [<a href="https://pubmed.ncbi.nlm.nih.gov/30600763" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30600763</span></a>]</div></li><li><div class="bk_ref" id="CDR0000813233_rl_3753_12">Kanagal-Shamanna R, Loghavi S, DiNardo CD, et al.: Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation. Haematologica 102 (10): 1661-1670, 2017. [<a href="/pmc/articles/PMC5622850/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5622850</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28659335" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28659335</span></a>]</div></li></ol></div></div><div id="CDR0000813233__3754"><h2 id="_CDR0000813233__3754_">Management and Prognosis for <i>RUNX1</i>-Familial Platelet Disorder (FPD)</h2><p id="CDR0000813233__3765"><a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000496506/" class="def">Surveillance</a> recommendations for individuals with <i>RUNX1</i>-FPD are based on expert opinion and typically include blood work (including a complete blood count [CBC] with differential conducted once or twice annually), in addition to a physical exam.[<a class="bk_pop" href="#CDR0000813233_rl_3754_1">1</a>] A bone marrow evaluation is suggested when an individual is first diagnosed with <i>RUNX1</i>-FPD. It is suggested that bone marrow evaluation be repeated when changes are found in the individual’s blood counts or when new, concerning medical findings (such as recurrent infections) occur. While annual bone marrow evaluations are often recommended for research purposes, there are no current clinical or pathological criteria that can reliably predict the development of hematologic malignancies in individuals with <i>RUNX1</i>-FPD. </p><p id="CDR0000813233__3766">Clinical outcomes and management decisions for individuals with <i>RUNX1</i>-FPD who experience malignant transformation are rarely reported. In general, standard treatment for the underlying malignancy (i.e., myelodysplastic syndrome, acute myeloid leukemia, or T-cell acute lymphoblastic leukemia directed-therapies) and consideration of an allogeneic stem cell transplant are recommended. Potential related donors should be evaluated for the <a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000460148/" class="def">familial</a>
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<i>RUNX1</i>
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<a href="/books/n/pdqcis/glossary_gen/def-item/glossary_gen_CDR0000783960/" class="def">pathogenic variant</a> to avoid transplanting stem cells with the same underlying genetic defect whenever possible. This approach can help avoid risks of graft failure and donor-derived leukemias.</p><div id="CDR0000813233_rl_3754"><h3>References</h3><ol><li><div class="bk_ref" id="CDR0000813233_rl_3754_1">Churpek JE, Lorenz R, Nedumgottil S, et al.: Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes. Leuk Lymphoma 54 (1): 28-35, 2013. [<a href="https://pubmed.ncbi.nlm.nih.gov/22691122" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22691122</span></a>]</div></li></ol></div></div><div id="CDR0000813233__3755"><h2 id="_CDR0000813233__3755_">Latest Updates to This Summary (12/14/2023)</h2><p id="CDR0000813233__1182">The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.</p><p id="CDR0000813233__3750">This is a new summary.</p><p id="CDR0000813233__disclaimerHP_3">This summary is written and maintained by the <a href="https://www.cancer.gov/publications/pdq/editorial-boards/genetics" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PDQ Cancer Genetics Editorial Board</a>, which is
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editorially independent of NCI. The summary reflects an independent review of
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the literature and does not represent a policy statement of NCI or NIH. More
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information about summary policies and the role of the PDQ Editorial Boards in
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maintaining the PDQ summaries can be found on the <a href="#CDR0000813233__AboutThis_1">About This PDQ Summary</a> and <a href="https://www.cancer.gov/publications/pdq" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PDQ® Cancer Information for Health Professionals</a> pages.
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</p></div><div id="CDR0000813233__AboutThis_1"><h2 id="_CDR0000813233__AboutThis_1_">About This PDQ Summary</h2><div id="CDR0000813233__AboutThis_2"><h3>Purpose of This Summary</h3><p id="CDR0000813233__AboutThis_3">This PDQ cancer information summary for health professionals provides comprehensive, peer-reviewed, evidence-based information about RUNX1-familial platelet disorder (RUNX1-FPD). It is intended as a resource to inform and assist clinicians in the care of their patients. It does not provide formal guidelines or recommendations for making health care decisions.</p></div><div id="CDR0000813233__AboutThis_4"><h3>Reviewers and Updates</h3><p id="CDR0000813233__AboutThis_5">This summary is reviewed regularly and updated as necessary by the <a href="https://www.cancer.gov/publications/pdq/editorial-boards/genetics" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PDQ Cancer Genetics Editorial Board</a>, which is editorially independent of the National Cancer Institute (NCI). The summary reflects an independent review of the literature and does not represent a policy statement of NCI or the National Institutes of Health (NIH).</p><p id="CDR0000813233__AboutThis_22"> Board members review recently published articles each month to determine whether an article should:</p><ul id="CDR0000813233__AboutThis_6"><li class="half_rhythm"><div>be discussed at a meeting,</div></li><li class="half_rhythm"><div>be cited with text, or</div></li><li class="half_rhythm"><div>replace or update an existing article that is already cited.</div></li></ul><p id="CDR0000813233__AboutThis_7">Changes to the summaries are made through a consensus process in which Board members evaluate the strength of the evidence in the published articles and determine how the article should be included in the summary.</p><p>The lead reviewers for RUNX1-Familial Platelet Disorder are:</p><ul><li class="half_rhythm"><div>Julia Cooper, MS, CGC (Ohio State University)</div></li><li class="half_rhythm"><div>Courtney DiNardo, MD, MSC (University of Texas, M.D. Anderson Cancer Center)</div></li><li class="half_rhythm"><div>Marcin Wlodarski, MD, PhD (St. Jude Children's Research Hospital)</div></li></ul><p id="CDR0000813233__AboutThis_9">Any comments or questions about the summary content should be submitted to Cancer.gov through the NCI website's <a href="https://www.cancer.gov/contact/email-us" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Email Us</a>. Do not contact the individual Board Members with questions or comments about the summaries. Board members will not respond to individual inquiries.</p></div><div id="CDR0000813233__AboutThis_10"><h3>Levels of Evidence</h3><p id="CDR0000813233__AboutThis_11">Some of the reference citations in this summary are accompanied by a level-of-evidence designation. These designations are intended to help readers assess the strength of the evidence supporting the use of specific interventions or approaches. The PDQ Cancer Genetics Editorial Board uses a <a href="/books/n/pdqcis/CDR0000685387/">formal evidence ranking system</a> in developing its level-of-evidence designations.</p></div><div id="CDR0000813233__AboutThis_12"><h3>Permission to Use This Summary</h3><p id="CDR0000813233__AboutThis_13">PDQ is a registered trademark. Although the content of PDQ documents can be used freely as text, it cannot be identified as an NCI PDQ cancer information summary unless it is presented in its entirety and is regularly updated. However, an author would be permitted to write a sentence such as “NCI’s PDQ cancer information summary about breast cancer prevention states the risks succinctly: [include excerpt from the summary].”</p><p id="CDR0000813233__AboutThis_14">The preferred citation for this PDQ summary is:</p><p id="CDR0000813233__AboutThis_15">PDQ® Cancer Genetics Editorial Board. PDQ RUNX1-Familial Platelet Disorder. Bethesda, MD: National Cancer Institute. Updated <MM/DD/YYYY>. Available at: <a href="https://www.cancer.gov/publications/pdq/information-summaries/genetics/runx1-hp-pdq" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">https://www.cancer.gov/publications/pdq/information-summaries/genetics/runx1-hp-pdq</a>. Accessed <MM/DD/YYYY>. </p><p id="CDR0000813233__AboutThis_16">Images in this summary are used with permission of the author(s), artist, and/or publisher for use within the PDQ summaries only. Permission to use images outside the context of PDQ information must be obtained from the owner(s) and cannot be granted by the National Cancer Institute. Information about using the illustrations in this summary, along with many other cancer-related images, is available in <a href="https://visualsonline.cancer.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Visuals Online</a>, a collection of over 2,000 scientific images.
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</p></div><div id="CDR0000813233__AboutThis_17"><h3>Disclaimer</h3><p id="CDR0000813233__AboutThis_19">The information in these summaries should not be used as a basis for insurance reimbursement determinations. More information on insurance coverage is available on Cancer.gov on the <a href="https://www.cancer.gov/about-cancer/managing-care" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Managing Cancer Care</a> page.</p></div><div id="CDR0000813233__AboutThis_20"><h3>Contact Us</h3><p id="CDR0000813233__AboutThis_21">More information about contacting us or receiving help with the Cancer.gov website can be found on our <a href="https://www.cancer.gov/contact" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Contact Us for Help</a> page. Questions can also be submitted to Cancer.gov through the website’s <a href="https://www.cancer.gov/contact/email-us" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Email Us</a>.</p></div></div></div></div>
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<div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Views</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PDF_download" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/NBK598339.1/?report=reader">PubReader</a></li><li><a href="/books/NBK598339.1/?report=printable">Print View</a></li><li><a data-jig="ncbidialog" href="#_ncbi_dlg_citbx_NBK598339" data-jigconfig="width:400,modal:true">Cite this Page</a><div id="_ncbi_dlg_citbx_NBK598339" style="display:none" title="Cite this Page"><div class="bk_tt">PDQ Cancer Genetics Editorial Board. RUNX1-Familial Platelet Disorder (PDQ®): Health Professional Version. 2023 Dec 14. In: PDQ Cancer Information Summaries [Internet]. Bethesda (MD): National Cancer Institute (US); 2002-. <span class="bk_cite_avail"></span></div></div></li><li><a href="#" class="toggle-glossary-link" title="Enable/disable links to the glossary">Disable Glossary Links</a></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Version History</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter shutter_closed" title="Show/hide content" remembercollapsed="true" pgsec_name="version_history" id="Shutter"></a></div><div class="portlet_content" style="display: none;"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><span class="bk_col_itm"><a href="/books/NBK598339.2/">NBK598339.2</a></span> November 25, 2024</li><li><span class="bk_col_itm">NBK598339.1</span> December 14, 2023 (Displayed Version)</li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>In this Page</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="page-toc" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="#CDR0000813233__3751" ref="log$=inpage&link_id=inpage">Introduction and Clinical Manifestations of <i>RUNX1</i>–Familial Platelet Disorder (<i>RUNX1</i>-FPD) </a></li><li><a href="#CDR0000813233__3753" ref="log$=inpage&link_id=inpage">Genetics and Molecular Biology of <i>RUNX1</i>-Familial Platelet Disorder (FPD)</a></li><li><a href="#CDR0000813233__3754" ref="log$=inpage&link_id=inpage">Management and Prognosis for <i>RUNX1</i>-Familial Platelet Disorder (FPD)</a></li><li><a href="#CDR0000813233__3755" ref="log$=inpage&link_id=inpage">Latest Updates to This Summary (12/14/2023)</a></li><li><a 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