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Chordoma

MedGen UID:
40277
Concept ID:
C0008487
Neoplastic Process
Synonym: Chordomas
SNOMED CT: Chordoma (1156453008); Chordoma (50007008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
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.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0010762
Monarch Initiative: MONDO:0008978
Orphanet: ORPHA178

Definition

Chordomas are rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral, and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues, and, rarely, distant metastatic spread (Stepanek et al., 1998). The incidence of chordoma is age-dependent, with fewer than 5% occurring in children and adolescents (summary by McMaster et al., 2011). [from OMIM]

Additional description

From MedlinePlus Genetics
A chordoma is a rare type of cancerous tumor that can occur anywhere along the spine, from the base of the skull to the tailbone. Chordomas grow slowly, gradually extending into the bone and soft tissue around them. They often recur after treatment, and in about 40 percent of cases the cancer spreads (metastasizes) to other areas of the body, such as the lungs.

Approximately half of all chordomas occur at the base of the spine (sacrum), about one third occur in the base of the skull (occiput), and the rest occur in the cervical (neck), thoracic (upper back), or lumbar (lower back) vertebrae of the spine. As the chordoma grows, it puts pressure on the adjacent areas of the brain or spinal cord, leading to the signs and symptoms of the disorder. A chordoma anywhere along the spine may cause pain, weakness, or numbness in the back, arms, or legs. A chordoma at the base of the skull (occipital chordoma) may lead to double vision (diplopia) and headaches. A chordoma that occurs in the tailbone (coccygeal chordoma) may result in a lump large enough to be felt through the skin and may cause problems with bladder or bowel function.

Chordomas typically occur in adults between ages 40 and 70. About 5 percent of chordomas are diagnosed in children. For reasons that are unclear, males are affected about twice as often as females.  https://medlineplus.gov/genetics/condition/chordoma

Conditions with this feature

Tuberous sclerosis 1
MedGen UID:
344288
Concept ID:
C1854465
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, TSC-associated neuropsychiatric disorder [TAND]); kidneys (benign renal angiomyolipomas, epithelial cysts, oncocytoma, renal cell carcinoma); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system-related problems (including TAND) are the leading cause of morbidity, whereas kidney disease is the leading cause of mortality.
Tuberous sclerosis 2
MedGen UID:
348170
Concept ID:
C1860707
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, TSC-associated neuropsychiatric disorder [TAND]); kidneys (benign renal angiomyolipomas, epithelial cysts, oncocytoma, renal cell carcinoma); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system-related problems (including TAND) are the leading cause of morbidity, whereas kidney disease is the leading cause of mortality.
Chordoma, susceptibility to
MedGen UID:
1787559
Concept ID:
C5441694
Finding

Professional guidelines

PubMed

Yin H, Hu J, Gao J, Su T, Jin J, Jiang C, Yin W, Xu X, Chang Z, Sun W, Cai Z, Zhou W, Wang P, Lin J, Song D, Meng T
Cell Rep Med 2024 Oct 15;5(10):101757. Epub 2024 Oct 4 doi: 10.1016/j.xcrm.2024.101757. PMID: 39368483Free PMC Article
Garofalo F, di Summa PG, Christoforidis D, Pracht M, Laudato P, Cherix S, Bouchaab H, Raffoul W, Demartines N, Matter M
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Orthopedics 2004 Dec;27(12):1256-63; quiz 1264-5. doi: 10.3928/0147-7447-20041201-14. PMID: 15633956

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Bone Cancer, 2024

Recent clinical studies

Etiology

Dridi M, Boutonnat J, Dumollard JM, Peoc'h M, Karpathiou G
Am J Clin Pathol 2021 Aug 4;156(3):334-339. doi: 10.1093/ajcp/aqaa250. PMID: 33629710
Levine AB, Wong D, Fatehi M, Yip S
Neurosurgery 2020 Oct 15;87(5):860-870. doi: 10.1093/neuros/nyaa329. PMID: 33057707
Snyderman CH, Gardner PA
Curr Opin Otolaryngol Head Neck Surg 2020 Apr;28(2):118-121. doi: 10.1097/MOO.0000000000000614. PMID: 32102007
Patel SS, Schwab JH
Curr Oncol Rep 2016 Sep;18(9):55. doi: 10.1007/s11912-016-0543-8. PMID: 27475804
Mendenhall WM, Mendenhall CM, Lewis SB, Villaret DB, Mendenhall NP
Head Neck 2005 Feb;27(2):159-65. doi: 10.1002/hed.20144. PMID: 15641104

Diagnosis

Kaufman D, Farias V, Lipton J, Brichkov I
Ann Thorac Surg 2022 Jul;114(1):e33-e34. Epub 2021 Oct 19 doi: 10.1016/j.athoracsur.2021.09.018. PMID: 34678279
Ulici V, Hart J
Arch Pathol Lab Med 2022 Mar 1;146(3):386-395. doi: 10.5858/arpa.2020-0258-RA. PMID: 34319396
Tirabosco R, O'Donnell P, Flanagan AM
Surg Pathol Clin 2021 Dec;14(4):619-643. Epub 2021 Jul 28 doi: 10.1016/j.path.2021.06.006. PMID: 34742484
Maclean FM, Soo MY, Ng T
Australas Radiol 2005 Aug;49(4):261-8. doi: 10.1111/j.1440-1673.2005.01433.x. PMID: 16026431
Mendenhall WM, Mendenhall CM, Lewis SB, Villaret DB, Mendenhall NP
Head Neck 2005 Feb;27(2):159-65. doi: 10.1002/hed.20144. PMID: 15641104

Therapy

Weber DC, Lim PS, Tran S, Walser M, Bolsi A, Kliebsch U, Beer J, Bachtiary B, Lomax T, Pica A
Br J Radiol 2020 Mar;93(1107):20190237. Epub 2019 May 20 doi: 10.1259/bjr.20190237. PMID: 31067074Free PMC Article
De Amorim Bernstein K, DeLaney T
J Surg Oncol 2016 Oct;114(5):564-569. Epub 2016 Oct 19 doi: 10.1002/jso.24368. PMID: 27760458
Keole S, Ashman JB, Daniels TB
Cancer J 2014 Nov-Dec;20(6):409-14. doi: 10.1097/PPO.0000000000000084. PMID: 25415687
Hanna AS, Grindle CR, Patel AA, Rosen MR, Evans JJ
Am J Otolaryngol 2012 Jan-Feb;33(1):178-80. Epub 2011 Jun 28 doi: 10.1016/j.amjoto.2011.04.001. PMID: 21715048
Koutourousiou M, Snyderman CH, Fernandez-Miranda J, Gardner PA
Otolaryngol Clin North Am 2011 Oct;44(5):1155-71. Epub 2011 Jul 21 doi: 10.1016/j.otc.2011.06.002. PMID: 21978899

Prognosis

Karele EN, Paze AN
Biochim Biophys Acta Rev Cancer 2022 Sep;1877(5):188796. Epub 2022 Sep 9 doi: 10.1016/j.bbcan.2022.188796. PMID: 36089204
Gardner JA, Devitt KA
Blood 2017 Nov 2;130(18):2043. doi: 10.1182/blood-2017-07-796904. PMID: 29097372
Hanna AS, Grindle CR, Patel AA, Rosen MR, Evans JJ
Am J Otolaryngol 2012 Jan-Feb;33(1):178-80. Epub 2011 Jun 28 doi: 10.1016/j.amjoto.2011.04.001. PMID: 21715048
Rubin AI, Bagel J, Niedt G
J Am Acad Dermatol 2005 May;52(5 Suppl 1):S105-8. doi: 10.1016/j.jaad.2004.07.055. PMID: 15858504
Mendenhall WM, Mendenhall CM, Lewis SB, Villaret DB, Mendenhall NP
Head Neck 2005 Feb;27(2):159-65. doi: 10.1002/hed.20144. PMID: 15641104

Clinical prediction guides

Zhang TL, Xia C, Zheng BW, Hu HH, Jiang LX, Escobar D, Zheng BY, Chen TD, Li J, Lv GH, Huang W, Yan YG, Zou MX
Neuro Oncol 2024 Feb 2;26(2):295-308. doi: 10.1093/neuonc/noad173. PMID: 37772937Free PMC Article
Xu J, Shi Q, Lou J, Wang B, Wang W, Niu J, Guo L, Chen C, Yu Y, Huang Y, Guo W, Lan J, Zhu Y, Ren T, Tang X
J Immunother Cancer 2023 Apr;11(4) doi: 10.1136/jitc-2023-006808. PMID: 37185233Free PMC Article
Thomas AJ, Wiggins RH 3rd, Gurgel RK
Otolaryngol Clin North Am 2015 Apr;48(2):343-59. Epub 2015 Feb 4 doi: 10.1016/j.otc.2014.12.008. PMID: 25659512
Yakkioui Y, van Overbeeke JJ, Santegoeds R, van Engeland M, Temel Y
Biochim Biophys Acta 2014 Dec;1846(2):655-69. Epub 2014 Sep 3 doi: 10.1016/j.bbcan.2014.07.012. PMID: 25193090
Shin HJ, Mackay B, Ichinose H, Ayala AG, Romsdahl MM
Ultrastruct Pathol 1994 Jan-Apr;18(1-2):249-56. doi: 10.3109/01913129409016297. PMID: 8191635

Recent systematic reviews

Dong M, Liu R, Zhang Q, Wang D, Luo H, Wang Y, Chen J, Ou Y, Wang X
Radiat Oncol 2023 Sep 13;18(1):152. doi: 10.1186/s13014-023-02337-x. PMID: 37705083Free PMC Article
Baig Mirza A, Bartram J, Okasha M, Al Banna Q, Vastani A, Maratos E, Gullan R, Thomas N
World Neurosurg 2021 Dec;156:e111-e129. Epub 2021 Sep 22 doi: 10.1016/j.wneu.2021.09.001. PMID: 34506978
Pennington Z, Ehresman J, Elsamadicy AA, Shin JH, Goodwin CR, Schwab JH, Sciubba DM
Neurosurg Focus 2021 May;50(5):E17. doi: 10.3171/2021.2.FOCUS201059. PMID: 33932924
Denaro L, Berton A, Ciuffreda M, Loppini M, Candela V, Brandi ML, Longo UG
J Spinal Cord Med 2020 Nov;43(6):797-812. Epub 2018 Jul 26 doi: 10.1080/10790268.2018.1483593. PMID: 30048230Free PMC Article
Ahmed AT, Abdel-Rahman O, Morsy M, Mustafa K, Testini P, Aleem IS, Murad MH, Nassr A
Spine (Phila Pa 1976) 2018 Oct 1;43(19):E1157-E1169. doi: 10.1097/BRS.0000000000002638. PMID: 29538244

Supplemental Content

Table of contents

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    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Bone Cancer, 2024

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