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Bone: Chordoma

Written1998-09Monica Miozzo
Dipartimento di Medicina Ospedale San Paolo Lab. di Genetica Umana,Via di Rudin,8, 20142 Milan, Italy

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ICD-Topo C400-C403,C408-C414,C418-C419 BONES & JOINTS
ICD-Morpho 9370/3 Chordoma, NOS
Atlas_Id 5028
Phylum Bones::Chordoma
Note chordoma is a malignant tumour derived from remnants of the fetal notochord; it occurs along the spinal axis, predominantly in the sphenooccipital (35%), vertebral (15%) and sacrococcygeal (50%) regions

Clinics and Pathology

Etiology although most chordomas are sporadics, five families with chordoma occurrence have been reported, two of them displaying an autosomal dominant transmission with incomplete penetrance (MIM. *215400); preliminary linkage data in a three generation family suggest that the disease locus might be assigned to chromosomes 1,17 or 19.
Epidemiology chordomas accounts for 1-4% of all primary bone tumours; the sacrococcygeal lesions are more common in the fifth decade of life, whereas the sphenooccipital tumours occur predominantly in children.
Clinics chordoma is a slowly-growing tumour, characterized by local destruction of bone and rarely distant metastatic spread.
the differential diagnosis includes renal tumours, chondrosarcomas and myxo-papillary ependymoma.
Pathology microscopically, it resembles normal fetal notochord in its different stages of development; it is composed of extremly large cells (know as physaliferous) and other small tumour cells; areas of cartilage and bone may be present.


in eight sporadic sacral chordomas with abnormal karyotype, a tumour-specific rearrangement has not been identified; the karyotypes, characterized by a hypo-or near-diploid chromosome number, showed complex rearrangements affecting several chromosomes, among them chromosome 1 was frequently involved in losses and translocations with different partners; no FISH experiments to clarify the complex cytogenetic picture have been performed so far


Cytogenetic, telomere, and telomerase studies in five surgically managed lumbosacral chordomas.
Butler MG, Dahir GA, Hedges LK, Juliao SF, Sciadini MF, Schwartz HS
Cancer genetics and cytogenetics. 1995 ; 85 (1) : 51-57.
PMID 8536238
Chordoma: a 20-year clinicopathologic review of the experience at Groote Schuur Hospital, Cape Town.
Chetty R, Levin CV, Kalan MR
Journal of surgical oncology. 1991 ; 46 (4) : 261-264.
PMID 2008091
Chordoma in siblings.
California medicine. 1958 ; 88 (5) : 383-386.
PMID 13523418
Genomic screening for linkage in a family with autosomal dominant chordoma
Korczak JF, Kelley MJ, Allikian KA, Shah AA, Goldstein AM, Parry DM
Am J Hum Genet. 1997 ; 61 : page A400.
Letter: Findings in pellagrin patients.
Krengel B
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde. 1975 ; 49 (11) : page 383.
PMID 1145355
Clonal chromosome aberrations in three sacral chordomas.
Mertens F, Kreicbergs A, Rydholm A, Willén H, Carlén B, Mitelman F, Mandahl N
Cancer genetics and cytogenetics. 1994 ; 73 (2) : 147-151.
PMID 8174090
Familial chordoma with probable autosomal dominant inheritance.
Stepanek J, Cataldo SA, Ebersold MJ, Lindor NM, Jenkins RB, Unni K, Weinshenker BG, Rubenstein RL
American journal of medical genetics. 1998 ; 75 (3) : 335-336.
PMID 9475610


This paper should be referenced as such :
Miozzo, M
Bone: Chordoma
Atlas Genet Cytogenet Oncol Haematol. 1999;3(1):39-40.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]


External links

arrayMap Topo ( C40,C41) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
Disease databaseBone: Chordoma
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

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