Frequent PIK3CA-activating mutations in hidradenoma papilliferums

Jau Yu Liau, Jui Lan, Jin Bon Hong, Jia Huei Tsai, Kuan Tin Kuo, Chia Yu Chu, Yi Shuan Sheen, Wen Chang Huang

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)

Abstract

Summary Hidradenoma papilliferum (HP) is a benign epithelial tumor most commonly seen in the vulva. It is proposed to be derived from the anogenital mammary-like glands and is histologically very similar to the mammary intraductal papilloma (IP). Approximately 60% of mammary IPs have activating mutations in either PIK3CA or AKT1, with each gene accounting for 30% of cases. In this study, we screened the mutation statuses of PIK3CA, AKT1, RAS, and BRAF in 30 HPs. The results showed that activating mutations in either PIK3CA or AKT1 were identified in 20 tumors (67%); 19 tumors had PIK3CA mutations (63%; 13 in exon 20 and 6 in exon 9), and 1 had an AKT1 E17K mutation (3%). BRAF V600E mutation was found in an HP that also had a PIK3CA H1047R mutation. No RAS mutation was found. The mutation status was not correlated with the degree of epithelial cell hyperplasia. We conclude that although there might be site-related variations in the mutation frequencies of PIK3CA and AKT1 genes, HP is histologically and also genetically very similar to the mammary IP, suggesting that HP can be viewed as the extramammary counterpart of mammary IP.

Original languageEnglish
Pages (from-to)57-62
Number of pages6
JournalHuman Pathology
Volume55
DOIs
Publication statusPublished - Sep 1 2016

Keywords

  • AKT1
  • Anogenital mammary-like glands
  • Hidradenoma papilliferum
  • Intraductal papilloma
  • PIK3CA

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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