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.

Foote RF, Ablin G, Hall W.

Calif Med 1958; 88: 383-386.

Familial nasopharyngeal chordoma.

Kerr WA, Haynes DR, Sellars SL.

S Afr Med J 1975; 49: 1584.

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

Chetty R, Levin CV, Kalan MR.

J Surgic Oncol 1991; 46: 261-264.

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: A400.

Familial chordoma with probable autosomal dominant inheritance.

Stepanek J, Cataldo, SA, Ebesold MJ, Lindor NM, Jenkins RB. Weinshenker BJ, Rubenstein RL.

Am J Med Genet 1998 Jan 23;75(3):335-6

PMID 98133757

Clonal chromosome aberration in three sacral chordomas.

Mertenes F, Kreicbergs A, Rydholm A, Willen H, Carlen B, Mitelman F, Mandahl

Cancer Genet Cytogenet 1994; 73: 147-151.

PMID 94228479

Cytogenetic, telomere, and telomerase studies in five surgically managed lumbosacral chordomas.

Butler MG, Dahir GA, Hedges LK, Juliao SF, Sciardini MF, Schwartz HS.

Cancer Genet Cytogenet 1995; 85: 51-57.

PMID 96133976

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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. September 1998 . URL : http://AtlasGeneticsOncology.org/Tumors/chordomaID5028.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Thu Apr 17 14:14:56 2008

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