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Chordoma, susceptibility to(CHDM)

MedGen UID:
1787559
Concept ID:
C5441694
Finding
Synonym: CHDM
 
OMIM®: 215400

Clinical features

From HPO
Astrocytoma
MedGen UID:
438
Concept ID:
C0004114
Neoplastic Process
Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.
Chordoma
MedGen UID:
40277
Concept ID:
C0008487
Neoplastic Process
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).
  • Abnormality of the musculoskeletal system
  • Abnormality of the nervous system

Recent clinical studies

Etiology

Xia B, Biswas K, Foo TK, Gomes TT, Riedel-Topper M, Southon E, Kang Z, Huo Y, Reid S, Stauffer S, Zhou W, Zhu B, Koka H, Yepes S, Brodie SA, Jones K, Vogt A, Zhu B, Carter B, Freedman ND, Hicks B, Yeager M, Chanock SJ, Couch F, Parry DM, Monteiro AN, Goldstein AM, Carvalho MA, Sharan SK, Yang XR
Hum Mutat 2022 Oct;43(10):1396-1407. Epub 2022 Jul 12 doi: 10.1002/humu.24427. PMID: 35762214Free PMC Article
Jalessi M, Gholami MS, Razmara E, Hassanzadeh S, Sadeghipour A, Jahanbakhshi A, Tabibkhooei A, Bahrami E, Falah M
J Clin Lab Anal 2022 Jan;36(1):e24150. Epub 2021 Nov 27 doi: 10.1002/jcla.24150. PMID: 34837714Free PMC Article
Parry DM, McMaster ML, Liebsch NJ, Patronas NJ, Quezado MM, Zametkin D, Yang XR, Goldstein AM
J Neurosurg 2021 May 1;134(5):1399-1408. Epub 2020 Jun 19 doi: 10.3171/2020.4.JNS193505. PMID: 32559743Free PMC Article
Kelley MJ, Shi J, Ballew B, Hyland PL, Li WQ, Rotunno M, Alcorta DA, Liebsch NJ, Mitchell J, Bass S, Roberson D, Boland J, Cullen M, He J, Burdette L, Yeager M, Chanock SJ, Parry DM, Goldstein AM, Yang XR
Hum Genet 2014 Oct;133(10):1289-97. Epub 2014 Jul 4 doi: 10.1007/s00439-014-1463-z. PMID: 24990759Free PMC Article
Ponti G, Luppi G, Martorana D, Rossi G, Losi L, Bertolini F, Sartori G, Pellacani G, Seidenari S, Boni E, Neri TM, Silini E, Tamburini E, Maiorana A, Conte PF
Oncol Rep 2010 Feb;23(2):437-44. PMID: 20043105

Diagnosis

Koka H, Zhou W, McMaster ML, Bai J, Luo W, Klein A, Zhang T, Hua X, Li X, Wang D, Xiong Y, Jones K, Vogt A, Hicks B, Parry D, Goldstein AM, Yang XR
Acta Neuropathol Commun 2024 Aug 12;12(1):129. doi: 10.1186/s40478-024-01833-9. PMID: 39135136Free PMC Article
Parry DM, McMaster ML, Liebsch NJ, Patronas NJ, Quezado MM, Zametkin D, Yang XR, Goldstein AM
J Neurosurg 2021 May 1;134(5):1399-1408. Epub 2020 Jun 19 doi: 10.3171/2020.4.JNS193505. PMID: 32559743Free PMC Article
Hung YP, Diaz-Perez JA, Cote GM, Wejde J, Schwab JH, Nardi V, Chebib IA, Deshpande V, Selig MK, Bredella MA, Rosenberg AE, Nielsen GP
Am J Surg Pathol 2020 Sep;44(9):1213-1223. doi: 10.1097/PAS.0000000000001501. PMID: 32427623
Ponti G, Luppi G, Martorana D, Rossi G, Losi L, Bertolini F, Sartori G, Pellacani G, Seidenari S, Boni E, Neri TM, Silini E, Tamburini E, Maiorana A, Conte PF
Oncol Rep 2010 Feb;23(2):437-44. PMID: 20043105
Chugh R, Tawbi H, Lucas DR, Biermann JS, Schuetze SM, Baker LH
Oncologist 2007 Nov;12(11):1344-50. doi: 10.1634/theoncologist.12-11-1344. PMID: 18055855

Therapy

Kim SE, Jung SI, Park KH, Choi YJ, Won EJ, Shin JH
BMC Infect Dis 2020 May 27;20(1):377. doi: 10.1186/s12879-020-05095-3. PMID: 32460728Free PMC Article
Bydon M, Papadimitriou K, Witham T, Wolinsky JP, Bydon A, Sciubba D, Gokaslan Z
Expert Opin Ther Targets 2012 Nov;16(11):1139-43. Epub 2012 Aug 4 doi: 10.1517/14728222.2012.714772. PMID: 22860993

Prognosis

Ishiwata S, Yanagawa T, Saito K, Takagishi K
Orthopedics 2015 Jul 1;38(7):e651-4. doi: 10.3928/01477447-20150701-93. PMID: 26186331
Kelley MJ, Shi J, Ballew B, Hyland PL, Li WQ, Rotunno M, Alcorta DA, Liebsch NJ, Mitchell J, Bass S, Roberson D, Boland J, Cullen M, He J, Burdette L, Yeager M, Chanock SJ, Parry DM, Goldstein AM, Yang XR
Hum Genet 2014 Oct;133(10):1289-97. Epub 2014 Jul 4 doi: 10.1007/s00439-014-1463-z. PMID: 24990759Free PMC Article
Hodge JC, Pearce KE, Wang X, Wiktor AE, Oliveira AM, Greipp PT
Mod Pathol 2014 Jan;27(1):113-27. Epub 2013 Jul 5 doi: 10.1038/modpathol.2013.83. PMID: 23828314
Chugh R, Tawbi H, Lucas DR, Biermann JS, Schuetze SM, Baker LH
Oncologist 2007 Nov;12(11):1344-50. doi: 10.1634/theoncologist.12-11-1344. PMID: 18055855

Clinical prediction guides

O'Halloran K, Hakimjavadi H, Bootwalla M, Ostrow D, Kerawala R, Cotter JA, Yellapantula V, Kaneva K, Wadhwani NR, Treece A, Foreman NK, Alexandrescu S, Velazquez Vega J, Biegel JA, Gai X
Mol Cancer Res 2024 Aug 2;22(8):721-729. doi: 10.1158/1541-7786.MCR-23-0741. PMID: 38691518Free PMC Article
Kelley MJ, Shi J, Ballew B, Hyland PL, Li WQ, Rotunno M, Alcorta DA, Liebsch NJ, Mitchell J, Bass S, Roberson D, Boland J, Cullen M, He J, Burdette L, Yeager M, Chanock SJ, Parry DM, Goldstein AM, Yang XR
Hum Genet 2014 Oct;133(10):1289-97. Epub 2014 Jul 4 doi: 10.1007/s00439-014-1463-z. PMID: 24990759Free PMC Article
Hodge JC, Pearce KE, Wang X, Wiktor AE, Oliveira AM, Greipp PT
Mod Pathol 2014 Jan;27(1):113-27. Epub 2013 Jul 5 doi: 10.1038/modpathol.2013.83. PMID: 23828314
Miozzo M, Dalprà L, Riva P, Volontà M, Macciardi F, Pericotti S, Tibiletti MG, Cerati M, Rohde K, Larizza L, Fuhrman Conti AM
Int J Cancer 2000 Jul 1;87(1):68-72. PMID: 10861454

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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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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