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Detection of chromosome imbalances in retinoblastoma by parallel karyotype and CGH analyses
Author(s) -
Mairal Aline,
Pinglier Evelyne,
Gilbert Elisabeth,
Peter Martine,
Validire Pierre,
Desjardins Laurence,
Doz François,
Aurias Alain,
Couturier Jérôme
Publication year - 2000
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/1098-2264(200008)28:4<370::aid-gcc2>3.0.co;2-8
Subject(s) - karyotype , comparative genomic hybridization , biology , retinoblastoma , chromosome , gene duplication , genetics , chromosome 13 , chromosomal translocation , fish <actinopterygii> , gene , microbiology and biotechnology , fishery
We have studied a series of 20 primary retinoblastomas by karyotypic analysis and comparative genomic hybridization (CGH), to perform an exhaustive evaluation of chromosome imbalances in this tumor. In addition, 4 tumors were studied by CGH only. On the whole, CGH results were largely in agreement with those of karyotypic analysis and with known cytogenetic data. The most frequent imbalances were +6p (13/24 cases), +1q (12/24), −16/−16q (11/24), and +2p (9/24). Recurrent high‐level amplifications were observed in 2p23–25 and 1q21. Amplification of 2p23–25, present in 4 cases among which 3 showed double‐minute chromosomes, was related to MYCN amplification, as demonstrated by FISH and PCR. No evident correlation was found in this small series between any of the imbalances identified and either the differentiation or the histoprognostic risk. Genes Chromosomes Cancer 28:370–379, 2000. © 2000 Wiley‐Liss, Inc.