p53 mutations in sweat gland carcinomas

Abstract

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 p53mutation, 4 of which were G:C|iOA:T transition mutations and 1 of which was a deletion. Three G:C|iOA: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. Int. J. Cancer 76:317–320, 1998.© 1998 Wiley‐Liss, Inc.

Apocrine-Eccrine Carcinomas: Molecular and Immunohistochemical Analyses

“…Two of eleven hidradenocarcinomas exhibited TP53 mutations in the series by Kazakoz et al . [17] Similar to findings reported by Biernat et al [15] and Kazakov et al [17], we found TP53 mutations in codon 248 of exon 7 and codon 273 of exon 8 in our 7 positive cases ( Table 5 ). Interestingly, these same mutations have also been reported in breast carcinomas [40]–[42].…”

“…TP53 mutations are usually clustered within the most conserved regions of exons 4, 5, 7, and 8 [39]. TP53 mutations have been previously described in apocrine-eccrine carcinomas ( Table 5 ) [15]–[19]. Takata et al [18] performed PCR based assays for loss of heterozygosity on chromosomes 3p, 5q, 9p, 9q, 13q, and 17p; yet found only 1 case with TP53 mutation by direct sequencing of exons 5 to 8.…”

“…Takata et al [18] performed PCR based assays for loss of heterozygosity on chromosomes 3p, 5q, 9p, 9q, 13q, and 17p; yet found only 1 case with TP53 mutation by direct sequencing of exons 5 to 8. Biernat et al [15] employed single-stranded conformation polymorphism analysis followed by direct DNA sequencing and found 5 of 16 sweat gland carcinomas possessed TP53 mutations ( Table 5 ). Two of eleven hidradenocarcinomas exhibited TP53 mutations in the series by Kazakoz et al .…”

“…With the exception of the tumors associated with familial syndromes, studies on genetic alterations [15]–[19] and biomarkers such as epidermal growth factor receptor (EGFR) and HER2 status [7], [17], [20] of apocrine-eccrine carcinomas are few in number. Translocation t(11;19) has been demonstrated in 2 of 11 hidradenocarcinomas [17].…”

Sclerosing Sweat Duct Carcinoma of the Eyelid

“…10,11 Mutation of the p53 gene and increased levels of p53 protein are among the most frequent alterations in malignant sweat gland tumors. 18,19 Sweat gland carcinomas showing c-erbB-2 expression had a high p53 index, and a higher p53 index was associated with a poor prognosis. 20 Our case showed positive staining for cytokeratin and c-erbB-2.…”