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First cytogenetic study of a recurrent familial chordoma of the clivus
Author(s) -
Dalprà Leda,
Malgara Roberta,
Miozzo Monica,
Riva Paola,
Volonté Marinella,
Larizza Lidia,
Fuhrman Conti Anna M.
Publication year - 1999
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/(sici)1097-0215(19990331)81:1<24::aid-ijc5>3.0.co;2-o
Subject(s) - chordoma , clivus , karyotype , biology , fluorescence in situ hybridization , cytogenetics , pathology , chromosomal translocation , chromosome , genetics , medicine , anatomy , skull , gene
Two recurrences of a familial clivus chordoma, arisen from a patient who developed the primary tumor at age of 8 years, were investigated by cytogenetic and the fluorescence in situ hybridization (FISH) approach. Of the patient's 3 daughters, 2 developed, respectively, a clivus chordoma and an astrocytoma in infancy, a familial aggregation highly suggestive of a genetic background. After a 31‐year hiatus, 2 tumor recurrences, developed over 17 months, were removed surgically. Both were hypo‐ or nearly diploid, and had a pronounced karyotypic heterogeneity with clonal and non‐clonal rearrangements affecting several chromosomes. The same rearrangement, a dic(1;9)(p36.1;p21), was shared in both tumor specimens and, in 90% of the cells, chromosome 1p appeared to be involved in unbalanced translocations with different chromosomes, leading to variable losses of 1p. Previous cytogenetic data concerning chordoma are limited to 10 sporadic tumors with an abnormal karyotype; although no tumor‐specific rearrangements have been identified, chromosome 1p appears to be involved frequently. Int. J. Cancer 81:24–30, 1999. © 1999 Wiley‐Liss, Inc.