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Locus‐specific multifluor FISH analysis allows physical characterization of complex chromosome abnormalities in neoplasia
Author(s) -
Gisselsson David,
Mandahl Nils,
Pålsson Eva,
Gorunova Ludmila,
Höglund Mattias
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(200007)28:3<347::aid-gcc14>3.0.co;2-2
Subject(s) - biology , breakpoint , cosmid , cytogenetics , genetics , metaphase , comparative genomic hybridization , karyotype , chromosome , gene
Novel techniques in molecular cytogenetics have radically improved the ability to characterize genetic changes in neoplastic cells. In parallel, a rapid development in high‐throughput genomics has resulted in detailed physical maps of the human genome. Combining these two fields, we have developed a method for the simultaneous visualization of several physically defined segments along a chromosome. Seven YAC clones and one subtelomeric cosmid clone from chromosome 12 were labeled with unique combinations of four fluors and hybridized to metaphase chromosomes from neoplastic cells. In a uterine leiomyoma and a myxoid liposarcoma with translocations 12;14 and 12;16, the breakpoints in chromosome 12 could be localized to the HMGIC and CHOP regions, respectively. In the other tumors, more complex aberrations were visualized, including two inversions in 12q with a common breakpoint between MDM 2 and D 12 S 332 in a pleomorphic adenoma, amplification of MDM 2 and CDK 4 in ring chromosomes from a malignant fibrous histiocytoma, and amplification of KRAS 2 together with other unbalanced rearrangements in two pancreatic adenocarcinomas. Combinatorially labeled single‐copy probes may thus simultaneously provide physical localization of breakpoints and an overview of complex structural rearrangements. Genes Chromosomes Cancer 28:347–352, 2000. © 2000 Wiley‐Liss, Inc.