An assessment of mismatch repair deficiency in ovarian tumours at a public hospital in Johannesburg, South Africa

Abstract

Background. Epithelial ovarian carcinomas (EOCs) are lethal female genital tract malignancies with high-grade serous, low-grade serous, endometrioid, clear cell, mucinous and malignant Brenner subtypes. The lifetime risk for developing ovarian carcinoma (OC) is 15% in females who have mismatch repair deficiency (MMR-d). MMR-d is associated with Lynch syndrome, a cancer predisposition condition. Patients who have MMR-d may benefit from immunotherapy. To the best of the authors’ knowledge, MMR-d testing of OCs in South Africa (SA) has not been undertaken to date. Objectives. To assess the clinicopathological characteristics and mismatch repair (MMR) status of non-serous EOCs at a single institution in SA.Methods. Following ethical clearance and application of exclusion criteria, 19 cases of non-serous EOC from the Department of Anatomical Pathology at Charlotte Maxeke Johannesburg Academic Hospital were retrieved and assessed. Four immunohistochemical markers (MLH1, MSH2, MSH6 and PMS2) were used to evaluate MMR status. Results. Most tumours were early-stage, unilateral, mucinous EOCs, without capsular breach or lymphovascular invasion (LVI). A single case of grade 1, stage I, unilateral, endometrioid EOC showed MMR-d for MLH1 and PMS2 MMR proteins. This patient had been diagnosed with endometrioid endometrial carcinoma 2 years prior to the diagnosis of OC.Conclusion. Our study documented a lower proportion of MMR-d OCs compared with international studies. However, our results are concordant with global studies regarding tumour subtype, laterality, grade, stage, LVI and capsular breach. Larger studies are required to estimate the true incidence of MMR-d OCs in SA and to direct effective treatment options globally.