Mismatch repair deficiency is associated with specific morphologic features and frequent loss of ARID1A expression in ovarian clear cell carcinoma

• DOI: 10.1186/s13000-021-01071-w
• Publication Date: 2021-02-04T15:08:56Z
• Authors: Huijuan Ge; Yaoxin Xiao; Guangqi Qin; Yanzi Gu; Xu Cai; Wenhua Jiang; Xiaoyu Tu; Wentao Yang; Rui Bi
• Keywords: MSH2; Tissue microarray; Clear cell carcinoma; ARID1A; MSH6; Lynch Syndrome

Ovarian clear cell carcinoma (OCCC) is the second subtype of ovarian epithelial reported to be closely related Lynch syndrome (LS). ARID1A mutation an important pathogenetic mechanism in OCCC that leads loss expression approximately half OCCCs. However, correlation MMR status and deficiency unclear. The current study aimed identify clinical histopathological characteristics associated with dMMR further explore association between deficiency.A cohort 176 primary patients was enrolled review included histological (nuclear atypia, necrosis, mitosis, stromal hyalinization, background precursors) host inflammatory response (tumor-infiltrating lymphocytes, peritumoral intratumoral inflammation plasma infiltration). Immunohistochemical staining MLH1, PMS2, MSH2, MSH6 performed using tissue microarrays.dMMR detected 10/176 tumors (6 %), followed by MSH2/MSH6 (6/176), MLH1/PMS2 (3/176), (1/176). average age younger than intact (46 y vs. 53 y). Tumors diffuse remained significantly after multivariate analysis. absent 8 (8/10), which a higher frequency observed (80 % 43.2 %).Our indicates OCCCs dMMR, being most frequent. strongly OCCC.