Common Genetic Changes between Endometriosis and Ovarian Cancer

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AI-generated summary by claude@2026-06, 2026-06-08

This study found common genetic alterations, including loss of heterozygosity on 10q23 and PTEN mutations, in endometrioid and serous ovarian cancers, supporting their origin from endometriosis.

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Abstract

We analyzed 81 ovarian cancers for loss of heterozygosity (LOH) on 10q23 and for mutations in PTEN. LOH was common among the endometrioid (43%) and serous (28%) cancers, but was infrequent among the other histological subtypes. Somatic PTEN mutations were detected in seven (21%) endometrioid cancers and the mutation in all informative cases was accompanied by loss of the wild-type allele. One mucinous cancer without 10q23 LOH was shown to harbor two somatic PTEN mutations. Frequent LOH was observed on chromosome 6q (60.0%) and chromosome 10q (40.0%) in ovarian atypical endometriosis, but no PTEN mutations were observed. These findings support the hypothesis that endometrioid and clear cell ovarian carcinomas may arise through malignant transformation of endometriotic lesions.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Endometriosis Genes, Tumor Suppressor Loss of Heterozygosity Ovarian Neoplasms Phosphoric Monoester Hydrolases Tumor Suppressor Proteins Adenocarcinoma, Clear Cell Adenocarcinoma, Clear Cell Adenocarcinoma, Clear Cell Carcinoma, Endometrioid Carcinoma, Endometrioid Carcinoma, Endometrioid DNA Mutational Analysis Endometriosis Endometriosis Female Humans Loss of Heterozygosity Mutation Ovarian Neoplasms

Citation neighborhood

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References (18)

Cited by (49)

Source provenance

europepmc
last seen: 2026-06-04T01:30:01.192114+00:00
openalex
last seen: 2026-06-04T00:00:01.174412+00:00
pubmed
last seen: 2026-05-13T22:13:30.513821+00:00
License: CC0 · commercial use OK