PIK3CA mutation is an early event in the development of endometriosis‐associated ovarian clear cell adenocarcinoma

Sohei Yamamoto, Hitoshi Tsuda, Masashi Takano, K Iwaya, Keichi Iwaya, Seiichi Tamai, Osamu Matsubara
The Journal of Pathology · 2011 · vol. 225(2) , pp. 189–194 · doi:10.1002/path.2940 · PMID:21735444 · W2028050295
article OA: bronze CC0 ⤵ 61 in-corpus citations
🔓 Open OA copy View on OpenAlex View on PubMed View at publisher
⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

PIK3CA H1047R mutations were found in adjacent endometriosis, suggesting they are early events initiating ovarian clear cell adenocarcinoma development from endometriosis.

One-sentence paraphrase of the abstract; not a substitute for reading it. No clinical advice. How this works

Abstract

Clear cell adenocarcinoma (CCA), a highly lethal histological subtype of ovarian carcinoma, is a type of human cancer with a high frequency of activating mutations in the PIK3CA gene. In this study, we aimed to determine how these mutations contribute to tumour development of CCAs. Exons 9 and 20 of the PIK3CA gene were analysed by direct genomic DNA sequencing of 23 CCAs with synchronous putative precursor lesions (ie endometriosis adjacent to carcinoma, with or without cytological atypia) and their mutational statuses were compared. Somatic mutations of the PIK3CA gene were detected in 10/23 (43%) carcinomas and in all cases the type of mutation was H1047R in the kinase domain. The identical H1047R mutation was also detected in the coexisting endometriotic epithelium, adjacent to the CCAs, in nine of ten (90%) cases. Moreover, in six of the nine lesions, the H1047R mutation was identified even in the endometrioses lacking cytological atypia. These findings provide evidence that mutations of the PIK3CA gene occur in the putative precursor lesions of CCA, strongly suggesting that they are very early events in tumourigenesis, probably initiating the malignant transformation of endometriosis. A specific kinase inhibitor to mutated PIK3CA may potentially be an effective therapeutic reagent against these carcinomas.

My notes (saved in your browser only)

Condition tags

mesh:D004715endometriosis

MeSH descriptors

Adenocarcinoma, Clear Cell Endometriosis Mutation Ovarian Neoplasms Phosphatidylinositol 3-Kinases Precancerous Conditions Adenocarcinoma, Clear Cell Adenocarcinoma, Clear Cell Adult Class I Phosphatidylinositol 3-Kinases Endometriosis Endometriosis Female Humans Middle Aged Neoplasm Staging Ovarian Neoplasms Ovarian Neoplasms Phosphatidylinositol 3-Kinases Precancerous Conditions

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (41)

Cited by (50)

Source provenance

europepmc
last seen: 2026-06-04T01:30:01.192114+00:00
openalex
last seen: 2026-06-10T17:14:06.276822+00:00
pubmed
last seen: 2026-05-13T22:16:35.898691+00:00
License: CC0 · commercial use OK