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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, OMIM, Orphanet
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: Chordoma (50007008)
 
Cytogenetic location: 6q27
OMIM®: 215400
HPO: HP:0010762
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.  https://ghr.nlm.nih.gov/condition/chordoma

Clinical features

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 vertebral column
MedGen UID:
892426
Concept ID:
C4021789
Anatomical Abnormality
Abnormality of the head
MedGen UID:
867438
Concept ID:
C4021812
Anatomical Abnormality

Term Hierarchy

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

Conditions with this feature

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).
Tuberous sclerosis 1
MedGen UID:
344288
Concept ID:
C1854465
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, facial angiofibromas, shagreen patches, cephalic plaques, ungual fibromas); brain (cortical dysplasias, subependymal nodules and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability/developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM]). CNS tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Tuberous sclerosis 2
MedGen UID:
348170
Concept ID:
C1860707
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, facial angiofibromas, shagreen patches, cephalic plaques, ungual fibromas); brain (cortical dysplasias, subependymal nodules and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability/developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM]). CNS tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.

Recent clinical studies

Etiology

Ahmed AK, Dawood HY, Arnaout OM, Laws ER Jr., Smith TR
World Neurosurg 2018 Jan;109:e676-e683. Epub 2017 Oct 20 doi: 10.1016/j.wneu.2017.10.054. PMID: 29061463
Sarabia-Estrada R, Ruiz-Valls A, Shah SR, Ahmed AK, Ordonez AA, Rodriguez FJ, Guerrero-Cazares H, Jimenez-Estrada I, Velarde E, Tyler B, Li Y, Phillips NA, Goodwin CR, Petteys RJ, Jain SK, Gallia GL, Gokaslan ZL, Quinones-Hinojosa A, Sciubba DM
J Neurosurg Spine 2017 Aug;27(2):215-226. Epub 2017 Jun 9 doi: 10.3171/2016.12.SPINE16917. PMID: 28598292
Jägersberg M, El Rahal A, Dammann P, Merkler D, Weber DC, Schaller K
Acta Neurochir (Wien) 2017 Oct;159(10):1815-1823. Epub 2017 May 7 doi: 10.1007/s00701-017-3163-7. PMID: 28478512
Stacchiotti S, Gronchi A, Fossati P, Akiyama T, Alapetite C, Baumann M, Blay JY, Bolle S, Boriani S, Bruzzi P, Capanna R, Caraceni A, Casadei R, Colia V, Debus J, Delaney T, Desai A, Dileo P, Dijkstra S, Doglietto F, Flanagan A, Froelich S, Gardner PA, Gelderblom H, Gokaslan ZL, Haas R, Heery C, Hindi N, Hohenberger P, Hornicek F, Imai R, Jeys L, Jones RL, Kasper B, Kawai A, Krengli M, Leithner A, Logowska I, Martin Broto J, Mazzatenta D, Morosi C, Nicolai P, Norum OJ, Patel S, Penel N, Picci P, Pilotti S, Radaelli S, Ricchini F, Rutkowski P, Scheipl S, Sen C, Tamborini E, Thornton KA, Timmermann B, Torri V, Tunn PU, Uhl M, Yamada Y, Weber DC, Vanel D, Varga PP, Vleggeert-Lankamp CLA, Casali PG, Sommer J
Ann Oncol 2017 Jun 1;28(6):1230-1242. doi: 10.1093/annonc/mdx054. PMID: 28184416Free PMC Article
Jung EW, Jung DL, Balagamwala EH, Angelov L, Suh JH, Djemil T, Magnelli A, Chao ST
Technol Cancer Res Treat 2017 Jun;16(3):302-309. Epub 2016 Jun 3 doi: 10.1177/1533034616652775. PMID: 27260562Free PMC Article

Diagnosis

Ahmed AK, Dawood HY, Arnaout OM, Laws ER Jr., Smith TR
World Neurosurg 2018 Jan;109:e676-e683. Epub 2017 Oct 20 doi: 10.1016/j.wneu.2017.10.054. PMID: 29061463
Lee IJ, Lee RJ, Fahim DK
World Neurosurg 2017 Aug;104:346-355. Epub 2017 Apr 27 doi: 10.1016/j.wneu.2017.04.118. PMID: 28457925
Song PH, Beyhaghi H, Sommer J, Bennett AV
Qual Life Res 2017 Aug;26(8):2237-2244. Epub 2017 Mar 17 doi: 10.1007/s11136-017-1544-2. PMID: 28315176Free PMC Article
Pu F, Wang B, Liu J, Chen F, Shao Z
Eur Spine J 2017 May;26(Suppl 1):95-99. Epub 2016 Nov 29 doi: 10.1007/s00586-016-4877-6. PMID: 27900552
Fujii R, Friedman ER, Richards J, Tsang KY, Heery CR, Schlom J, Hodge JW
Oncotarget 2016 Jun 7;7(23):33498-511. doi: 10.18632/oncotarget.9256. PMID: 27172898Free PMC Article

Therapy

Sarabia-Estrada R, Ruiz-Valls A, Shah SR, Ahmed AK, Ordonez AA, Rodriguez FJ, Guerrero-Cazares H, Jimenez-Estrada I, Velarde E, Tyler B, Li Y, Phillips NA, Goodwin CR, Petteys RJ, Jain SK, Gallia GL, Gokaslan ZL, Quinones-Hinojosa A, Sciubba DM
J Neurosurg Spine 2017 Aug;27(2):215-226. Epub 2017 Jun 9 doi: 10.3171/2016.12.SPINE16917. PMID: 28598292
Jägersberg M, El Rahal A, Dammann P, Merkler D, Weber DC, Schaller K
Acta Neurochir (Wien) 2017 Oct;159(10):1815-1823. Epub 2017 May 7 doi: 10.1007/s00701-017-3163-7. PMID: 28478512
Schuetze SM, Bolejack V, Choy E, Ganjoo KN, Staddon AP, Chow WA, Tawbi HA, Samuels BL, Patel SR, von Mehren M, D'Amato G, Leu KM, Loeb DM, Forscher CA, Milhem MM, Rushing DA, Lucas DR, Chugh R, Reinke DK, Baker LH
Cancer 2017 Jan 1;123(1):90-97. Epub 2016 Oct 3 doi: 10.1002/cncr.30379. PMID: 27696380
Jung EW, Jung DL, Balagamwala EH, Angelov L, Suh JH, Djemil T, Magnelli A, Chao ST
Technol Cancer Res Treat 2017 Jun;16(3):302-309. Epub 2016 Jun 3 doi: 10.1177/1533034616652775. PMID: 27260562Free PMC Article
Fenerty KE, Folio LR, Patronas NJ, Marté JL, Gulley JL, Heery CR
BMC Cancer 2016 Aug 23;16(1):672. doi: 10.1186/s12885-016-2699-x. PMID: 27553491Free PMC Article

Prognosis

Ahmed AK, Dawood HY, Arnaout OM, Laws ER Jr., Smith TR
World Neurosurg 2018 Jan;109:e676-e683. Epub 2017 Oct 20 doi: 10.1016/j.wneu.2017.10.054. PMID: 29061463
Jägersberg M, El Rahal A, Dammann P, Merkler D, Weber DC, Schaller K
Acta Neurochir (Wien) 2017 Oct;159(10):1815-1823. Epub 2017 May 7 doi: 10.1007/s00701-017-3163-7. PMID: 28478512
Lee IJ, Lee RJ, Fahim DK
World Neurosurg 2017 Aug;104:346-355. Epub 2017 Apr 27 doi: 10.1016/j.wneu.2017.04.118. PMID: 28457925
Rutkowski MJ, Birk HS, Wood MD, Perry A, Nicolaides T, Ames CP, Gupta N
J Neurosurg Pediatr 2017 May;19(5):531-537. Epub 2017 Mar 17 doi: 10.3171/2017.1.PEDS16549. PMID: 28304223
Jung EW, Jung DL, Balagamwala EH, Angelov L, Suh JH, Djemil T, Magnelli A, Chao ST
Technol Cancer Res Treat 2017 Jun;16(3):302-309. Epub 2016 Jun 3 doi: 10.1177/1533034616652775. PMID: 27260562Free PMC Article

Clinical prediction guides

Ahmed AK, Dawood HY, Arnaout OM, Laws ER Jr., Smith TR
World Neurosurg 2018 Jan;109:e676-e683. Epub 2017 Oct 20 doi: 10.1016/j.wneu.2017.10.054. PMID: 29061463
Sarabia-Estrada R, Ruiz-Valls A, Shah SR, Ahmed AK, Ordonez AA, Rodriguez FJ, Guerrero-Cazares H, Jimenez-Estrada I, Velarde E, Tyler B, Li Y, Phillips NA, Goodwin CR, Petteys RJ, Jain SK, Gallia GL, Gokaslan ZL, Quinones-Hinojosa A, Sciubba DM
J Neurosurg Spine 2017 Aug;27(2):215-226. Epub 2017 Jun 9 doi: 10.3171/2016.12.SPINE16917. PMID: 28598292
Jägersberg M, El Rahal A, Dammann P, Merkler D, Weber DC, Schaller K
Acta Neurochir (Wien) 2017 Oct;159(10):1815-1823. Epub 2017 May 7 doi: 10.1007/s00701-017-3163-7. PMID: 28478512
Lee IJ, Lee RJ, Fahim DK
World Neurosurg 2017 Aug;104:346-355. Epub 2017 Apr 27 doi: 10.1016/j.wneu.2017.04.118. PMID: 28457925
Fenerty KE, Folio LR, Patronas NJ, Marté JL, Gulley JL, Heery CR
BMC Cancer 2016 Aug 23;16(1):672. doi: 10.1186/s12885-016-2699-x. PMID: 27553491Free PMC Article

Recent systematic reviews

Zou MX, Lv GH, Zhang QS, Wang SF, Li J, Wang XB
World Neurosurg 2018 Jan;109:307-327. Epub 2017 Oct 16 doi: 10.1016/j.wneu.2017.10.010. PMID: 29045855
Stacchiotti S, Gronchi A, Fossati P, Akiyama T, Alapetite C, Baumann M, Blay JY, Bolle S, Boriani S, Bruzzi P, Capanna R, Caraceni A, Casadei R, Colia V, Debus J, Delaney T, Desai A, Dileo P, Dijkstra S, Doglietto F, Flanagan A, Froelich S, Gardner PA, Gelderblom H, Gokaslan ZL, Haas R, Heery C, Hindi N, Hohenberger P, Hornicek F, Imai R, Jeys L, Jones RL, Kasper B, Kawai A, Krengli M, Leithner A, Logowska I, Martin Broto J, Mazzatenta D, Morosi C, Nicolai P, Norum OJ, Patel S, Penel N, Picci P, Pilotti S, Radaelli S, Ricchini F, Rutkowski P, Scheipl S, Sen C, Tamborini E, Thornton KA, Timmermann B, Torri V, Tunn PU, Uhl M, Yamada Y, Weber DC, Vanel D, Varga PP, Vleggeert-Lankamp CLA, Casali PG, Sommer J
Ann Oncol 2017 Jun 1;28(6):1230-1242. doi: 10.1093/annonc/mdx054. PMID: 28184416Free PMC Article
Lockney DT, Shub T, Hopkins B, Lockney NA, Moussazadeh N, Lis E, Yamada Y, Schmitt AM, Higginson DS, Laufer I, Bilsky M
Neurosurg Focus 2017 Jan;42(1):E4. doi: 10.3171/2016.9.FOCUS16373. PMID: 28041314
Ailon T, Torabi R, Fisher CG, Rhines LD, Clarke MJ, Bettegowda C, Boriani S, Yamada YJ, Kawahara N, Varga PP, Shin JH, Saghal A, Gokaslan ZL
Spine (Phila Pa 1976) 2016 Oct 15;41 Suppl 20:S193-S198. doi: 10.1097/BRS.0000000000001812. PMID: 27753782Free PMC Article
Pennicooke B, Laufer I, Sahgal A, Varga PP, Gokaslan ZL, Bilsky MH, Yamada YJ
Spine (Phila Pa 1976) 2016 Oct 15;41 Suppl 20:S186-S192. doi: 10.1097/BRS.0000000000001831. PMID: 27509195Free PMC Article

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