Chordoma

Identity

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.

Cytogenetics

Cytogenetics Morphological

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

External links

Orphanet

Chordoma

Bibliography

Chordoma in siblings.

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PMID 13523418

Letter: Findings in pellagrin patients.

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PMID 1145355

Chordoma: a 20-year clinicopathologic review of the experience at Groote Schuur Hospital, Cape Town.

Chetty R, Levin CV, Kalan MR

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PMID 2008091

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.

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

Clonal chromosome aberrations in three sacral chordomas.

Mertens F, Kreicbergs A, Rydholm A, Willˆ©n H, Carlˆ©n B, Mitelman F, Mandahl N

Cancer genetics and cytogenetics. 1994 ; 73 (2) : 147-151.

PMID 8174090

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

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Contributor(s)

Written	09-1998	Monica Miozzo

Citation

This paper should be referenced as such :

Miozzo M . Chordoma. Atlas Genet Cytogenet Oncol Haematol. Septem ber 1998 . URL : http://AtlasGeneticsOncology.org/Genes/chordomaID5028.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Sep 24 21:09:16 2008

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