Relation of Mismatch Repair Deficiency in Endometrial Carcinoma and Its Clinical Implication
Author(s): Khatoon F, Ara R, Meher S, Akter N, Akter M, Sayed S, Ferdous J
Introduction: The identification of MMR deficiency allows screening for Lynch syndrome-associated endometrial carcinoma from sporadic ECs. Therefore, identification of MMRd tumors has become critical for patients with EC for therapeutic management, clinical decision making, and prognosis.
Aim of the study: The aim of the study was to evaluate the relationship between mismatch repair (MMR) deficiency and endometrial carcinoma, and to explore its clinical implications.
Methods: This cross-sectional study was conducted at Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, from March 2022 to February 2023 and included 49 consecutive endometrial carcinoma patients undergoing surgical management. Eligibility was based on histopathological confirmation. Surgical treatment included total hysterectomy and bilateral salpingo-oophorectomy and pelvic and para aortic Lymphdenectomy in eligible cases.. Data on clinicopathological parameters were collected from histopathological reports. Statistical analyses were conducted using SPSS version 23.0.
Result: In the study cohort, the most common age group among endometrial cancer patients was 51-60 years, irrespective of MMR status. Among the 16 MMR deficient cases, isolated single protein loss was observed in 5 (31.25%), with MSH2 being the most frequently lost protein. Notably, 16 (32.70%) of the study participants exhibited loss of MMR protein expression, indicative of MMR deficiency. Furthermore, MMR deficient endometrial cancer demonstrated a higher prevalence of grade III tumors 8 (50.00%) and an increased risk of advanced FIGO stage (III & IV) by 4.274 times compared to MMR proficient cases.
Conclusion: The study underscores a significant 33% prevalence of MMR deficiency in endometrial cancer, emphasizing the critical role of immunohistochemical detection for Lynch Syndrome screening and prognosis.