Van Gele M, Speleman F, Vandesompele J, Van Roy N, Leonard J H
Department of Medical Genetics, University Hospital Ghent, Belgium.
Cancer Res. 1998 Apr 1;58(7):1503-8.
Merkel cell carcinoma or small cell carcinoma of the skin is a rare skin cancer seen in increasing numbers in Queensland, Australia. In its clinical course and histopathology, it resembles small cell lung carcinoma (SCLC). Little is known of the genetic basis of this disease except for a number of cytogenetic studies and three loss of heterozygosity studies. Therefore, comparative genomic hybridization was performed to determine the characteristic DNA gains and losses that occur in this tumor. Comparative genomic hybridization analysis of 34 specimens from 24 patients revealed a pattern of gains and losses that closely resembles that seen in SCLC. Overall frequent loss was seen for chromosomes 3p (46%), 5q (21%), 8p (21%), 10 (33%), 11q (17%), 13q (33%), and 17p (25%). Significant gains were seen for chromosomes 1 (63%), 3q (33%), 5p (38%), 8q (38%), 19 (63%), and X (41%), with smaller numbers having gains for chromosomes 6, 7, 20, and 21. In contrast to SCLC, amplification in Merkel cell carcinoma is a rare event.
默克尔细胞癌或皮肤小细胞癌是一种罕见的皮肤癌，在澳大利亚昆士兰州的发病率呈上升趋势。在临床病程和组织病理学方面，它类似于小细胞肺癌（SCLC）。除了一些细胞遗传学研究和三项杂合性缺失研究外，对该疾病的遗传基础知之甚少。因此，进行了比较基因组杂交以确定该肿瘤中发生的特征性DNA增加和缺失情况。对24例患者的34个标本进行的比较基因组杂交分析显示，其增减模式与SCLC中所见的模式非常相似。总体而言，3p（46%）、5q（21%）、8p（21%）、10（33%）、11q（17%）、13q（33%）和17p（25%）染色体常见缺失。1（63%）、3q（33%）、5p（38%）、8q（38%）、19（63%）和X（41%）染色体有显著增加，少数病例6、7、20和21号染色体有增加。与SCLC不同，默克尔细胞癌中的扩增是罕见事件。
