European Journal of Biomedical and Pharmaceutical Sciences

DIAGNOSTIC AND PROGNOSTIC BIOMARKERS IN ENDOMETRIAL CARCINOMA AND ENDOMETRIAL STROMAL SARCOMA: A REVIEW WITH FOCUS ON EVIDENCE GAPS IN SUB SAHARAN AFRICA

*Akpor I. O., Ben-Ameh E. I., Agwa M. N., Gyenger D. T., Anenga R. N., Orhungur C. M.

ABSTRACT

Endometrial carcinoma (EC) and endometrial stromal sarcoma (ESS) constitute the most common epithelial and mesenchymal uterine malignancies. The integration of molecular classification in EC (TCGA/ProMisE subgroups) and fusion-driven profiling in ESS has markedly enhanced diagnostic accuracy and prognostic stratification. However, robust evidence synthesis from low-resource settings, particularly Sub-Saharan Africa (SSA), is limited despite a rising disease burden and constrained access to advanced pathology services. Globally, strong evidence supports the clinical or practical application of immunohistochemical (IHC) surrogates for TCGA (the cancer genome atlas) molecular subgroups in characterizing endometrial carcinoma, particularly with reference to the expression of p53 and mismatch repair (MMR) proteins. Alongside or parallel to this there is the application of fusion-associated markers (CD10, cyclin D1, BCOR) to the molecular characterization or labelling of endometrial stromal sarcoma (ESS). Prognostic meta-analyses have equally confirmed the impact of TP53 aberration (HR ≈2.8 for overall survival), hormone receptor loss, L1CAM overexpression, and HE4 elevation in further understanding the pathogenesis and molecular marking or labelling of these gynaecologic malignant diseases. In Sub-Saharan Africa, only a handful of studies (total ≈200 cases) addressed biomarker assays and or evaluation. Primarily we just have descriptive IHC (immunohistochemical studies) reported from Kenya and South Africa; molecular sequencing or fusion genes testing were however absent. High rates of aberrant p53 expression in endometrial cancer (up to 56.1% overall, 100% in serous carcinoma) and MMR loss (≈30% in endometrioid carcinoma) were reported, yet no locally validated panels or prospective prognostic data exist in the African context. While high-income settings benefit from integrated histomolecular algorithms, SSA suffers from profound gaps in biomarker validation, accessibility, and implementation. As now recommended, affordable IHC panels, capacity building, and prospective African cohorts are urgently required to reduce diagnostic delays and outcome disparities.

Keywords: Endometrial carcinoma, Endometrial stromal sarcoma, Biomarkers, Immunohistochemistry, Molecular classification, Sub-Saharan Africa.