Biernat W, Peraud A, Wozniak L, Ohgaki H
International Agency for Research on Cancer, Lyon, France.
Int J Cancer. 1998 May 4;76(3):317-20. doi: 10.1002/(sici)1097-0215(19980504)76:3<317::aid-ijc5>3.0.co;2-y.
Sweat gland carcinomas are rare skin tumours and little is known about their etiology and molecular basis. In this study, we analyzed p53 mutations in 16 sweat gland carcinomas with different histologic types, including 2 spiradenocarcinomas, 1 composed adnexal carcinoma, 5 porocarcinomas, 2 eccrine hidradenocarcinomas, 2 syringocystadenocarcinomas, 1 sclerosing sweat gland carcinoma, 1 adenoid cystic carcinoma, 1 cylindrocarcinoma and 1 apocrine adenocarcinoma. Single-stranded conformation polymorphism (SSCP) analyses followed by direct DNA sequencing revealed that 5 carcinomas (31%) contained a p53 mutation, 4 of which were G:C-->A:T transition mutations and 1 of which was a deletion. Three G:C-->A:T mutations were located at dipyrimidine sequences on the antisense strand (2 spiradenocarcinomas, 1 eccrine hidradenocarcinoma), suggesting that UV light may play a role in the development of sweat gland carcinomas. In 2 spiradenocarcinomas, p53 mutations were present in the carcinoma but not in the adenoma portions, suggesting that p53 mutations may be associated with malignant progression in these rare adnexal tumours.
汗腺癌是一种罕见的皮肤肿瘤，其病因和分子基础鲜为人知。在本研究中，我们分析了16例不同组织学类型的汗腺癌中的p53突变情况，其中包括2例螺旋腺癌、1例复合性附件癌、5例导管癌、2例小汗腺腺癌、2例汗腺囊腺癌、1例硬化性汗腺癌、1例腺样囊性癌、1例圆柱瘤和1例大汗腺癌。采用单链构象多态性（SSCP）分析并直接进行DNA测序后发现，5例癌（31%）含有p53突变，其中4例为G:C→A:T转换突变，1例为缺失突变。3例G:C→A:T突变位于反义链的二嘧啶序列上（2例螺旋腺癌、1例小汗腺腺癌），提示紫外线可能在汗腺癌的发生发展中起作用。在2例螺旋腺癌中，癌组织中存在p53突变，而腺瘤部分未出现，提示p53突变可能与这些罕见附件肿瘤的恶性进展有关。
