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.

First cytogenetic study of a recurrent familial chordoma of the clivus / L. Dalprà, R. Malgara, M. Miozzo, P. Riva, M. Volontè, L. Larizza, A. M. Fuhrman Conti. - In: INTERNATIONAL JOURNAL OF CANCER. - ISSN 0020-7136. - 81:1(1999 Mar 31), pp. 24-30.

First cytogenetic study of a recurrent familial chordoma of the clivus

M. Miozzo;P. Riva;M. Volontè;L. Larizza
Penultimo
;
A. M. Fuhrman Conti
1999

Abstract

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.
Karyotyping; Skull Base Neoplasms; Cranial Fossa, Posterior; Humans; In Situ Hybridization, Fluorescence; Child; Chordoma; Child, Preschool; Adult; Neoplasm Recurrence, Local; Adolescent; Female; Male
Settore MED/03 - Genetica Medica
Settore BIO/13 - Biologia Applicata
31-mar-1999
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/184535
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