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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, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system 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, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, 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], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Chordoma, susceptibility to
MedGen UID:
1787559
Concept ID:
C5441694
Finding

Professional guidelines

PubMed

Court C, Briand S, Mir O, Le Péchoux C, Lazure T, Missenard G, Bouthors C
Orthop Traumatol Surg Res 2022 Feb;108(1S):103169. Epub 2021 Dec 7 doi: 10.1016/j.otsr.2021.103169. PMID: 34890865
Williams BJ, Raper DM, Godbout E, Bourne TD, Prevedello DM, Kassam AB, Park DM
J Natl Compr Canc Netw 2013 Jun 1;11(6):726-31. doi: 10.6004/jnccn.2013.0089. PMID: 23744869
Biermann JS, Adkins DR, Agulnik M, Benjamin RS, Brigman B, Butrynski JE, Cheong D, Chow W, Curry WT, Frassica DA, Frassica FJ, Hande KR, Hornicek FJ, Jones RL, Mayerson J, McGarry SV, McGrath B, Morris CD, O'Donnell RJ, Randall RL, Santana VM, Satcher RL, Siegel HJ, von Mehren M, Bergman MA, Sundar H; National complrehensive cancer network
J Natl Compr Canc Netw 2013 Jun 1;11(6):688-723. doi: 10.6004/jnccn.2013.0088. PMID: 23744868

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Bone Cancer, 2023

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
Court C, Briand S, Mir O, Le Péchoux C, Lazure T, Missenard G, Bouthors C
Orthop Traumatol Surg Res 2022 Feb;108(1S):103169. Epub 2021 Dec 7 doi: 10.1016/j.otsr.2021.103169. PMID: 34890865
Levine AB, Wong D, Fatehi M, Yip S
Neurosurgery 2020 Oct 15;87(5):860-870. doi: 10.1093/neuros/nyaa329. PMID: 33057707
Radaelli S, Fossati P, Stacchiotti S, Akiyama T, Asencio JM, Bandiera S, Boglione A, Boland P, Bolle S, Bruland Ø, Brunello A, Bruzzi P, Campanacci D, Cananzi F, Capanna R, Casadei R, Cordoba A, Court C, Dei Tos AP, DeLaney TF, De Paoli A, De Pas TM, Desai A, Di Brina L, Donati DM, Fabbri N, Fiore MR, Frezza A, Gambarotti M, Gasbarrini A, Georg P, Grignani G, Hindi N, Hug EB, Jones R, Kawai A, Krol AD, Le Grange F, Luzzati A, Marquina G, Martin-Benlloch JA, Mazzocco K, Navarria F, Navarria P, Parchi PD, Patel S, Pennacchioli E, Petrongari MG, Picci P, Pollock R, Porcu L, Quagliuolo V, Sangalli C, Scheipl S, Scotto GM, Spalek M, Steinmeier T, Timmermann B, Trama A, Uhl M, Valverde C, Varga PP, Verges R, Weber DC, Zoccali C, Casali PG, Sommer J, Gronchi A
Eur J Surg Oncol 2020 Aug;46(8):1415-1422. Epub 2020 Apr 27 doi: 10.1016/j.ejso.2020.04.028. PMID: 32402509
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

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
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
Levine AB, Wong D, Fatehi M, Yip S
Neurosurgery 2020 Oct 15;87(5):860-870. doi: 10.1093/neuros/nyaa329. PMID: 33057707
Williams BJ, Raper DM, Godbout E, Bourne TD, Prevedello DM, Kassam AB, Park DM
J Natl Compr Canc Netw 2013 Jun 1;11(6):726-31. doi: 10.6004/jnccn.2013.0089. PMID: 23744869

Therapy

Somaiah N, Conley AP, Parra ER, Lin H, Amini B, Solis Soto L, Salazar R, Barreto C, Chen H, Gite S, Haymaker C, Nassif EF, Bernatchez C, Mitra A, Livingston JA, Ravi V, Araujo DM, Benjamin R, Patel S, Zarzour MA, Sabir S, Lazar AJ, Wang WL, Daw NC, Zhou X, Roland CL, Cooper ZA, Rodriguez-Canales J, Futreal A, Soria JC, Wistuba II, Hwu P
Lancet Oncol 2022 Sep;23(9):1156-1166. Epub 2022 Aug 4 doi: 10.1016/S1470-2045(22)00392-8. PMID: 35934010
Radaelli S, Fossati P, Stacchiotti S, Akiyama T, Asencio JM, Bandiera S, Boglione A, Boland P, Bolle S, Bruland Ø, Brunello A, Bruzzi P, Campanacci D, Cananzi F, Capanna R, Casadei R, Cordoba A, Court C, Dei Tos AP, DeLaney TF, De Paoli A, De Pas TM, Desai A, Di Brina L, Donati DM, Fabbri N, Fiore MR, Frezza A, Gambarotti M, Gasbarrini A, Georg P, Grignani G, Hindi N, Hug EB, Jones R, Kawai A, Krol AD, Le Grange F, Luzzati A, Marquina G, Martin-Benlloch JA, Mazzocco K, Navarria F, Navarria P, Parchi PD, Patel S, Pennacchioli E, Petrongari MG, Picci P, Pollock R, Porcu L, Quagliuolo V, Sangalli C, Scheipl S, Scotto GM, Spalek M, Steinmeier T, Timmermann B, Trama A, Uhl M, Valverde C, Varga PP, Verges R, Weber DC, Zoccali C, Casali PG, Sommer J, Gronchi A
Eur J Surg Oncol 2020 Aug;46(8):1415-1422. Epub 2020 Apr 27 doi: 10.1016/j.ejso.2020.04.028. PMID: 32402509
Albano L, Losa M, Flickinger J, Mortini P, Minniti G
Neuroendocrinology 2020;110(9-10):848-858. Epub 2020 Mar 4 doi: 10.1159/000506902. PMID: 32126559
Frezza AM, Botta L, Trama A, Dei Tos AP, Stacchiotti S
Curr Opin Oncol 2019 Mar;31(2):114-120. doi: 10.1097/CCO.0000000000000502. PMID: 30585858
Casali PG, Stacchiotti S, Sangalli C, Olmi P, Gronchi A
Curr Opin Oncol 2007 Jul;19(4):367-70. doi: 10.1097/CCO.0b013e3281214448. PMID: 17545801

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
Tu K, Lee S, Roy S, Sawant A, Shukla H
Curr Cancer Drug Targets 2022 Aug 15;22(8):678-690. doi: 10.2174/1568009622666220419122716. PMID: 35440334
Casali PG, Blay JY, Abecassis N, Bajpai J, Bauer S, Biagini R, Bielack S, Bonvalot S, Boukovinas I, Bovee JVMG, Boye K, Brodowicz T, Buonadonna A, De Álava E, Dei Tos AP, Del Muro XG, Dufresne A, Eriksson M, Fedenko A, Ferraresi V, Ferrari A, Frezza AM, Gasperoni S, Gelderblom H, Gouin F, Grignani G, Haas R, Hassan AB, Hindi N, Hohenberger P, Joensuu H, Jones RL, Jungels C, Jutte P, Kasper B, Kawai A, Kopeckova K, Krákorová DA, Le Cesne A, Le Grange F, Legius E, Leithner A, Lopez-Pousa A, Martin-Broto J, Merimsky O, Messiou C, Miah AB, Mir O, Montemurro M, Morosi C, Palmerini E, Pantaleo MA, Piana R, Piperno-Neumann S, Reichardt P, Rutkowski P, Safwat AA, Sangalli C, Sbaraglia M, Scheipl S, Schöffski P, Sleijfer S, Strauss D, Strauss SJ, Hall KS, Trama A, Unk M, van de Sande MAJ, van der Graaf WTA, van Houdt WJ, Frebourg T, Gronchi A, Stacchiotti S; ESMO Guidelines Committee, EURACAN and GENTURIS. Electronic address: clinicalguidelines@esmo.org
Ann Oncol 2022 Jan;33(1):20-33. Epub 2021 Sep 21 doi: 10.1016/j.annonc.2021.09.005. PMID: 34560242
Gronchi A, Miah AB, Dei Tos AP, Abecassis N, Bajpai J, Bauer S, Biagini R, Bielack S, Blay JY, Bolle S, Bonvalot S, Boukovinas I, Bovee JVMG, Boye K, Brennan B, Brodowicz T, Buonadonna A, De Álava E, Del Muro XG, Dufresne A, Eriksson M, Fagioli F, Fedenko A, Ferraresi V, Ferrari A, Frezza AM, Gasperoni S, Gelderblom H, Gouin F, Grignani G, Haas R, Hassan AB, Hecker-Nolting S, Hindi N, Hohenberger P, Joensuu H, Jones RL, Jungels C, Jutte P, Kager L, Kasper B, Kawai A, Kopeckova K, Krákorová DA, Le Cesne A, Le Grange F, Legius E, Leithner A, Lopez-Pousa A, Martin-Broto J, Merimsky O, Messiou C, Mir O, Montemurro M, Morland B, Morosi C, Palmerini E, Pantaleo MA, Piana R, Piperno-Neumann S, Reichardt P, Rutkowski P, Safwat AA, Sangalli C, Sbaraglia M, Scheipl S, Schöffski P, Sleijfer S, Strauss D, Strauss S, Sundby Hall K, Trama A, Unk M, van de Sande MAJ, van der Graaf WTA, van Houdt WJ, Frebourg T, Casali PG, Stacchiotti S; ESMO Guidelines Committee, EURACAN and GENTURIS. Electronic address: clinicalguidelines@esmo.org
Ann Oncol 2021 Nov;32(11):1348-1365. Epub 2021 Jul 22 doi: 10.1016/j.annonc.2021.07.006. PMID: 34303806
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

Clinical prediction guides

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
Sharifnia T, Wawer MJ, Goodale A, Lee Y, Kazachkova M, Dempster JM, Muller S, Levy J, Freed DM, Sommer J, Kalfon J, Vazquez F, Hahn WC, Root DE, Clemons PA, Schreiber SL
Nat Commun 2023 Apr 6;14(1):1933. doi: 10.1038/s41467-023-37593-8. PMID: 37024492Free PMC Article
Tu K, Lee S, Roy S, Sawant A, Shukla H
Curr Cancer Drug Targets 2022 Aug 15;22(8):678-690. doi: 10.2174/1568009622666220419122716. PMID: 35440334
Court C, Briand S, Mir O, Le Péchoux C, Lazure T, Missenard G, Bouthors C
Orthop Traumatol Surg Res 2022 Feb;108(1S):103169. Epub 2021 Dec 7 doi: 10.1016/j.otsr.2021.103169. PMID: 34890865
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

Recent systematic reviews

Brown NJ, Gendreau J, Kuo CC, Nguyen O, Yang C, Catapano JS, Lawton MT
J Neurooncol 2023 Oct;165(1):41-51. Epub 2023 Oct 25 doi: 10.1007/s11060-023-04477-2. PMID: 37880419
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
Leah P, Dower A, Vescovi C, Mulcahy M, Al Khawaja D
J Clin Neurosci 2018 Jul;53:6-12. Epub 2018 Apr 30 doi: 10.1016/j.jocn.2018.04.008. PMID: 29724651
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
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. PMID: 21749184

Supplemental Content

Table of contents

    Clinical resources

    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, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Bone Cancer, 2023

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