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Deletion mapping of the short arm of chromosome 3 in Merkel cell carcinoma

✍ Scribed by J. Helen Leonard; Gareth Williams; Marilyn K. Walters; Derek J. Nancarrow; Pamela H. Rabbitts

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 404 KB
Volume: 15
Category: Article
ISSN: 1045-2257
DOI: 10.1002/(sici)1098-2264(199602)15:2<102::aid-gcc4>3.0.co;2-7

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✦ Synopsis

Little is known about the biology of Merkel cell carcinoma (MCC), also called small cell carcinoma of the skin. MCC has similarities with small cell lung cancer (SCLC): both are neuroendocrine malignancies with early metastasis t o distant sites and a poor prognosis. Small cell lung cancer biopsies are known t o have frequent losses on chromosome 3 in the region 3p2 I, yet MCCs have not been reported t o have 3p deletions by karyotypic analysis. Considering the similarities between SCLC and MCC, we investigated 26 MCC tumours for loss of heterozygosity (LOH) on 3p. First, RFLP analysis was performed using PCR with nine primer sets from six loci. Second, 25 tumours were examined by microsatellite analysis for 3p markers D3S I289 and D3S I285 and SST on 3q. All 26 tumours were informative at one or more loci; of these, I 8 (69%) demonstrated LOH for at least one marker on the short arm. For all informative loci the frequency of LOH was greater than 30% (range 33-75%). In a cell line derived from one tumour, it was possible t o demonstrate rearrangement of chromosome 3 by in situ hybridisation.

No LOH was seen in I 5 informative cases for the 3q locus SST. A region 3p I 3-2 I. I, centered on the marker D3S2, was deleted in all tumours demonstrating LOH, with a secondary deletion involving D3S30 detected in some tumours at 3pl3. Our results indicate that LOH on 3p is a common occurrence in MCC; however, three tumours for which DNA was also available from a corresponding cell line suggest there may be a subset of MCC whose genesis is independent of deletions of 3p. Genes Chromosom Cancer 15:102-107 (1996) 0 1996 Wiley-Liss, Inc.

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