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Mismatch Repair Deficiency in Adult Granulosa Cell Tumors: an Immunohistochemistry-based Preliminary Study
Parikshaa Gupta1, Gargi Kapatia1, Nalini Gupta1
1Department of Cytology and Gynecological Pathology.
Objective:
Adult granulosa cell tumors (AGCTs) are rare ovarian malignant neoplasms; their etiopathogenetic mechanisms remain largely unelucidated. Lately, defects in mismatch repair (MMR) have been implicated in the pathogenesis of AGCTs. Demonstration of MMR deficiency in these tumors can help identify patients potentially eligible for immune checkpoint inhibition therapy. The present study was done to explore the role of MMR deficiency in the etiopathogenesis of AGCTs.
Methods:
This was a retrospective study conducted on histopathologically confirmed AGCT cases. MMR protein expression was evaluated by immunohistochemistry (IHC) on tissue microarrays using an antibody panel of MSH2, MSH6, MLH1, and PMS2.
Results:
Of a total of 40 ovarian AGCTs evaluated for MMR deficiency, none demonstrated loss of expression of any of the 4 MMR proteins.
Conclusions:
The results of our preliminary study show that there is no association between MMR deficiency with AGCT. Nevertheless, larger multicenter studies are needed to confirm or refute this observation.
Insights
Mismatch repair (MMR) deficiency was investigated in adult granulosa cell tumors (AGCTs). This study found no association between MMR deficiency and AGCT, suggesting it may not play a role in the development of these rare ovarian cancers.
Area of Science:
- Oncology
- Gynecologic Pathology
- Molecular Diagnostics
Background:
- Adult granulosa cell tumors (AGCTs) are rare ovarian cancers with unclear causes.
- Defects in mismatch repair (MMR) have been suggested as a potential factor in AGCT development.
- Identifying MMR deficiency could guide targeted therapies like immune checkpoint inhibitors.
Purpose of the Study:
- To investigate the role of mismatch repair (MMR) deficiency in the etiopathogenesis of adult granulosa cell tumors (AGCTs).
- To determine if MMR protein expression is altered in AGCTs.
- To assess the potential link between MMR deficiency and AGCT development.
Main Methods:
- Retrospective analysis of 40 histopathologically confirmed AGCT cases.
- Immunohistochemistry (IHC) used to evaluate MMR protein expression (MSH2, MSH6, MLH1, PMS2).
- Analysis performed on tissue microarrays.
Main Results:
- None of the 40 evaluated AGCTs showed a loss of expression for any of the four MMR proteins.
- MMR protein expression was intact in all cases analyzed.
- No evidence of MMR deficiency was detected in this cohort.
Conclusions:
- This preliminary study found no association between mismatch repair (MMR) deficiency and adult granulosa cell tumors (AGCTs).
- MMR deficiency does not appear to be involved in the pathogenesis of AGCTs based on these findings.
- Larger, multicenter studies are recommended to confirm these results.
