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Chordoma(CHDM)

MedGen UID:
40277
Concept ID:
C0008487
Neoplastic Process
Synonyms: CHDM; CHORDOMA, SUSCEPTIBILITY TO
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
not inherited (Orphanet)
SNOMED CT: Chordoma (50007008)
 
OMIM®: 215400
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 GHR
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.  http://ghr.nlm.nih.gov/condition/chordoma

Clinical features

Chordoma
MedGen UID:
426768
Concept ID:
CN009588
Finding
A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis.
Abnormality of the head
MedGen UID:
427401
Concept ID:
CN000226
Finding
An abnormality of the head.
Abnormality of the vertebral column
MedGen UID:
446382
Concept ID:
CN000867
Finding
Any abnormality of the vertebral column.
Chordoma
MedGen UID:
426768
Concept ID:
CN009588
Finding
A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGChordoma
Follow this link to review classifications for Chordoma in Orphanet.

Recent clinical studies

Etiology

Froehlich EV, Rinner B, Deutsch AJ, Meditz K, Knausz H, Troppan K, Scheipl S, Wibmer C, Leithner A, Liegl B, Lohberger B
J Orthop Res 2015 May;33(5):771-8. Epub 2015 Mar 13 doi: 10.1002/jor.22819. [Epub ahead of print] PMID: 25640185
Stacchiotti S, Sommer J; Chordoma Global Consensus Group
Lancet Oncol 2015 Feb;16(2):e71-83. doi: 10.1016/S1470-2045(14)71190-8. PMID: 25638683
Kim JH, Jung HH, Chang JH, Chang JW, Park YG, Chang WS
J Neurosurg 2014 Dec;121 Suppl:188-97. doi: 10.3171/2014.7.GKS141213. PMID: 25434952
Karikari IO, Gilchrist CL, Jing L, Alcorta DA, Chen J, Richardson WJ, Gabr MA, Bell RD, Kelley MJ, Bagley CA, Setton LA
J Neurosurg Spine 2014 Sep;21(3):386-93. Epub 2014 Jun 6 doi: 10.3171/2014.4.SPINE13262. [Epub ahead of print] PMID: 24905390Free PMC Article
Wang L, Wu Z, Tian K, Li G, Zhang J
World Neurosurg 2014 Nov;82(5):791-8. Epub 2013 Feb 13 doi: 10.1016/j.wneu.2012.12.037. [Epub ahead of print] PMID: 23416632

Diagnosis

Stacchiotti S, Sommer J; Chordoma Global Consensus Group
Lancet Oncol 2015 Feb;16(2):e71-83. doi: 10.1016/S1470-2045(14)71190-8. PMID: 25638683
Kim JH, Jung HH, Chang JH, Chang JW, Park YG, Chang WS
J Neurosurg 2014 Dec;121 Suppl:188-97. doi: 10.3171/2014.7.GKS141213. PMID: 25434952
Tsutsumi S, Akiba C, Suzuki T, Nakanishi H, Izumi H, Yasumoto Y, Ito M
Clin Neuroradiol 2014 Dec;24(4):313-20. Epub 2014 Jul 29 doi: 10.1007/s00062-014-0321-7. [Epub ahead of print] PMID: 25070287
Jo VY, Hornick JL, Qian X
Diagn Cytopathol 2014 Aug;42(8):647-52. Epub 2014 Feb 19 doi: 10.1002/dc.23100. [Epub ahead of print] PMID: 24554551
Wang L, Wu Z, Tian K, Li G, Zhang J
World Neurosurg 2014 Nov;82(5):791-8. Epub 2013 Feb 13 doi: 10.1016/j.wneu.2012.12.037. [Epub ahead of print] PMID: 23416632

Therapy

Froehlich EV, Rinner B, Deutsch AJ, Meditz K, Knausz H, Troppan K, Scheipl S, Wibmer C, Leithner A, Liegl B, Lohberger B
J Orthop Res 2015 May;33(5):771-8. Epub 2015 Mar 13 doi: 10.1002/jor.22819. [Epub ahead of print] PMID: 25640185
Cheney MD, Chen YL, Lim R, Winrich BK, Grosu AL, Trofimov AV, Depauw N, Shih HA, Schwab JH, Hornicek FJ, DeLaney TF
Int J Radiat Oncol Biol Phys 2014 Dec 1;90(5):1030-6. doi: 10.1016/j.ijrobp.2014.08.016. PMID: 25539367Free PMC Article
Kim JH, Jung HH, Chang JH, Chang JW, Park YG, Chang WS
J Neurosurg 2014 Dec;121 Suppl:188-97. doi: 10.3171/2014.7.GKS141213. PMID: 25434952
Osaka E, Yang X, Shen JK, Yang P, Feng Y, Mankin HJ, Hornicek FJ, Duan Z
J Orthop Res 2014 Aug;32(8):1075-82. Epub 2014 Apr 24 doi: 10.1002/jor.22632. [Epub ahead of print] PMID: 24760686Free PMC Article
Davies JM, Robinson AE, Cowdrey C, Mummaneni PV, Ducker GS, Shokat KM, Bollen A, Hann B, Phillips JJ
J Neurosurg 2014 Feb;120(2):331-6. Epub 2013 Nov 29 doi: 10.3171/2013.10.JNS13598. [Epub ahead of print] PMID: 24286145

Prognosis

Froehlich EV, Rinner B, Deutsch AJ, Meditz K, Knausz H, Troppan K, Scheipl S, Wibmer C, Leithner A, Liegl B, Lohberger B
J Orthop Res 2015 May;33(5):771-8. Epub 2015 Mar 13 doi: 10.1002/jor.22819. [Epub ahead of print] PMID: 25640185
Tsutsumi S, Akiba C, Suzuki T, Nakanishi H, Izumi H, Yasumoto Y, Ito M
Clin Neuroradiol 2014 Dec;24(4):313-20. Epub 2014 Jul 29 doi: 10.1007/s00062-014-0321-7. [Epub ahead of print] PMID: 25070287
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. [Epub ahead of print] PMID: 24990759
Akhavan-Sigari R, Gaab MR, Rohde V, Abili M, Ostertag H
Eur Spine J 2014 Nov;23(11):2416-22. Epub 2014 Jun 15 doi: 10.1007/s00586-014-3417-5. [Epub ahead of print] PMID: 24929808
Wang L, Wu Z, Tian K, Li G, Zhang J
World Neurosurg 2014 Nov;82(5):791-8. Epub 2013 Feb 13 doi: 10.1016/j.wneu.2012.12.037. [Epub ahead of print] PMID: 23416632

Clinical prediction guides

Cheney MD, Chen YL, Lim R, Winrich BK, Grosu AL, Trofimov AV, Depauw N, Shih HA, Schwab JH, Hornicek FJ, DeLaney TF
Int J Radiat Oncol Biol Phys 2014 Dec 1;90(5):1030-6. doi: 10.1016/j.ijrobp.2014.08.016. PMID: 25539367Free PMC Article
Kim JH, Jung HH, Chang JH, Chang JW, Park YG, Chang WS
J Neurosurg 2014 Dec;121 Suppl:188-97. doi: 10.3171/2014.7.GKS141213. PMID: 25434952
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. [Epub ahead of print] PMID: 25193090
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. [Epub ahead of print] PMID: 24990759
Karikari IO, Gilchrist CL, Jing L, Alcorta DA, Chen J, Richardson WJ, Gabr MA, Bell RD, Kelley MJ, Bagley CA, Setton LA
J Neurosurg Spine 2014 Sep;21(3):386-93. Epub 2014 Jun 6 doi: 10.3171/2014.4.SPINE13262. [Epub ahead of print] PMID: 24905390Free PMC Article

Recent systematic reviews

Stacchiotti S, Sommer J; Chordoma Global Consensus Group
Lancet Oncol 2015 Feb;16(2):e71-83. doi: 10.1016/S1470-2045(14)71190-8. PMID: 25638683
Tsutsumi S, Akiba C, Suzuki T, Nakanishi H, Izumi H, Yasumoto Y, Ito M
Clin Neuroradiol 2014 Dec;24(4):313-20. Epub 2014 Jul 29 doi: 10.1007/s00062-014-0321-7. [Epub ahead of print] PMID: 25070287
Choudhri O, Feroze A, Hwang P, Vogel H, Ajlan A, Harsh G 4th
World Neurosurg 2014 Nov;82(5):912.e21-6. Epub 2014 Jun 14 doi: 10.1016/j.wneu.2014.06.019. [Epub ahead of print] PMID: 24937599
Jian BJ, Bloch OG, Yang I, Han SJ, Aranda D, Parsa AT
Br J Neurosurg 2011 Aug;25(4):446-53. Epub 2011 Jul 12 doi: 10.3109/02688697.2010.546896. [Epub ahead of print] PMID: 21749184
Jian BJ, Bloch OG, Yang I, Han SJ, Aranda D, Tihan T, Parsa AT
J Neurooncol 2010 May;98(1):101-8. Epub 2009 Dec 2 doi: 10.1007/s11060-009-0068-1. [Epub ahead of print] PMID: 19953297

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