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Molecular analysis of 1p36 breakpoints in two Merkel cell carcinomas
Author(s) -
Van Gele M.,
Van Roy N.,
Ronan S. G.,
Messiaen L.,
Vandesompele J.,
Geerts M. L.,
Naeyaert J. M.,
Blennow E.,
BarAm I.,
Das Gupta T. K.,
van der Drift P.,
Versteeg R.,
Leonard J. H.,
Speleman F.
Publication year - 1998
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/(sici)1098-2264(199809)23:1<67::aid-gcc10>3.0.co;2-b
Subject(s) - breakpoint , biology , loss of heterozygosity , merkel cell carcinoma , fluorescence in situ hybridization , chromosomal translocation , comparative genomic hybridization , merkel cell , chromosome , cytogenetics , cancer research , genetics , gene , carcinoma , allele
Merkel cell carcinoma (MCC) is a rare aggressive neuroendocrine tumor of the skin. Only little information is available on the genetic alterations occurring in this tumor. Cytogenetic studies thus far have not shown recurrent chromosomal changes, although various structural chromosome 1 rearrangements, including deletions, often leading to loss of distal 1p material appear to be frequent. We report on fluorescence in situ hybridization and loss of heterozygosity analyses of an MCC tumor and MCC cell line UISO. The present study has shown that two distinct regions in the most distal band 1p36 on the short arm of chromosome 1 can be implicated in MCC. One region at 1p36.3 was delineated by a distal deletion in the MCC tumor as a result of an unbalanced translocation, resulting in loss of all markers distal to ENO1 . This region was previously shown to be deleted in different tumor types including neuroblastoma. In cell line UISO an insertion in 1p36.2 was identified. The insertion breakpoint indicates a second, more proximal, region on 1p involved in MCC. The insertion breakpoint was mapped within a cluster of repetitive tRNA and snRNA genes and thus could coincide with the constitutional 1p36 breakpoint previously reported in a patient with neuroblastoma. Genes Chromosomes Cancer 23:67–71, 1998. © 1998 Wiley‐Liss, Inc.