First cytogenetic study of a recurrent familial chordoma of the clivus

Leda Dalprà, Roberta Malgara, Monica Miozzo, Paola Riva, Marinella Volonte, Lidia Larizza, Anna M. Fuhrman Conti

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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 I p appeared to be involved in unbalanced translocations with different chromosomes, leading to variable losses of Ip. Previous cytogenetic data concerning chordoma are limited to 10 sporadic tumors with an abnormal karyotype; although no tumor-specific rearrangements have been identified, chromosome I p appears to be involved frequently.

Original languageEnglish
Pages (from-to)24-30
Number of pages7
JournalInternational Journal of Cancer
Issue number1
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Cancer Research
  • Oncology


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