Frequent allelic loss at 10q23 but low incidence of PTEN mutations in Merkel cell carcinoma.

摘要: Merkel cell carcinoma (MCC) is a rare, highly metastatic skin tumor of neuroectodermal origin. The disease shares clinical and histopathological features with small lung (SCLC). genetic mechanisms underlying the development progression MCC are poorly understood. We recently showed by comparative genomic hybridization (CGH) that pattern chromosomal abnormalities in resembles SCLC. One most frequently observed losses involved entire chromosome 10 or partial loss long arm (33% examined cases). PTEN tumor-suppressor gene has been mapped to 10q23.3 was shown be mutated variety human cancers including Germline mutations have familial predisposing cancer syndromes Cowden disease. Interestingly, an association between syndrome reported. To study possible role oncogenesis, heterozygosity (LOH) analysis for 10q23 region performed on 26 samples from 23 patients. locus deleted 9 21 (43%) informative [7 18 (39%) patients]. Despite this high frequency LOH at 10q23, mutation homozygous deletion screening revealed only one nonsense second exon 9. These data suggest either alternative lead inactivation other genes implicated MCC. © 2001 Wiley-Liss, Inc.