Evidence map›Paper›PMID 40952306›Full record

ArticleAsian Pacific journal of cancer prevention : APJCP2025

Mismatch Repair Gene Deficiency in Ovarian Cancer: A Clinicopathological Analysis of MLH1, PMS2, MSH2, and MSH6 Mutations Across Histological Subtypes.

Akbar Ibrahimov, Fidan Novruzova

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Article in Asian Pacific journal of cancer prevention : APJCP, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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2 authors.

Akbar IbrahimovDepartment of Oncology, Azerbaijan Medical University, AZ1022 Baku, Azerbaijan.ORCID 0009-0007-8780-6400
Fidan NovruzovaDepartment of Oncology, Azerbaijan Medical University, AZ1022 Baku, Azerbaijan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimMismatch repair (MMR) deficiency is a prognostic biomarker in multiple malignancies, but its clinical significance in ovarian cancer (OC) remains poorly defined. This study investigates the prevalence of MMR gene defects (MLH1, PMS2, MSH2, MSH6) across OC histotypes and their clinicopathological associations.

methodsA retrospective cohort of 38 OC patients treated at Azerbaijan Medical University (2018-2023) underwent immunohistochemical (IHC) analysis of MMR protein expression. Clinicopathological data, including survival, recurrence, tumor characteristics, and biomarker status (Ki67, p53), were analyzed using SPSS v26.0. MMR deficiency was defined as loss of nuclear expression in ≥1 protein.

resultsMMR deficiency was identified in 5.2% of cases (2/38), restricted to endometrioid carcinomas (33.3% of endometrioid cases, 2/6). No deficiencies occurred in serous (n=27), clear cell (n=2), or mixed subtypes (n=3). Endometrioid tumors exhibited larger mean tumor size (13.7 ±5.2 cm vs. 10.0 ±3.7 cm in serous; p=0.01) and distinct Ki67/p53 expression patterns (p<0.05). Despite 55.3% overall mortality (21/38), MMR-deficient cases showed no recurrence or mortality. Serous carcinomas had the highest recurrence (37.0%, 10/27) and mortality rates (70.4%, 19/27). Five-year survival was 81.6%, with no significant association between MMR status and survival (p>0.05).

conclusionMMR deficiency in OC is histotype-dependent, occurring exclusively in endometrioid carcinomas. While not prognostic in this cohort, dMMR screening may guide surveillance for synchronous malignancies and identify candidates for immunotherapy. Multicenter studies with expanded cohorts are needed to validate clinical utility.

Indexed as

DNA-Binding ProteinsDNA Mismatch RepairMismatch Repair Endonuclease PMS2MutationMutL Protein Homolog 1MutS Homolog 2 ProteinOvarian NeoplasmsAdultAgedBiomarkers, TumorFemaleFollow-Up StudiesHumansMiddle AgedNeoplasm Recurrence, LocalPrognosisBiomarkers, TumorDNA-Binding ProteinsG-T mismatch-binding proteinMismatch Repair Endonuclease PMS2MLH1 protein, humanMSH2 protein, humanMutL Protein Homolog 1MutS Homolog 2 ProteinPMS2 protein, humanimmunohistochemistryKeywords: ovarian cancermismatch repair deficiency

Identifiers

PMID40952306
PMCPMC12882017

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.