Department of Cytology and Gynecological Pathology.
Department of Radiotherapy.
Appl Immunohistochem Mol Morphol. 2022 Sep 1;30(8):540-548. doi: 10.1097/PAI.0000000000001051. Epub 2022 Aug 15.
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.
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.
Of a total of 40 ovarian AGCTs evaluated for MMR deficiency, none demonstrated loss of expression of any of the 4 MMR proteins.
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.
成人颗粒细胞瘤（AGCT）是一种罕见的卵巢恶性肿瘤，其发病机制仍未完全阐明。最近，错配修复（MMR）缺陷与 AGCT 的发病机制有关。这些肿瘤中 MMR 缺陷的证明有助于确定有资格接受免疫检查点抑制治疗的患者。本研究旨在探讨 MMR 缺陷在 AGCT 发病机制中的作用。
这是一项回顾性研究，对组织学证实的 AGCT 病例进行研究。使用 MSH2、MSH6、MLH1 和 PMS2 的抗体组合，通过组织微阵列的免疫组织化学（IHC）评估 MMR 蛋白表达。
在总共 40 例评估 MMR 缺陷的卵巢 AGCT 中，没有任何一种 MMR 蛋白表达缺失。
我们的初步研究结果表明，MMR 缺陷与 AGCT 之间没有关联。然而，需要更大规模的多中心研究来证实或反驳这一观察结果。
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