Author:
Elsayed Inas,Geraghty Robert,Mekki Salwa O.,Mohamedani Ahmed A.,Ahern Susan,Salim Omer E. H.,Khalil Balgis B. M.,Abdelrahim Sawsan,Suliman Suliman H.,Elhassan Moawia M. A.,Salah Salah O.,Salih Mohamed E.,Widatalla Abubakr H.,Abdelhamed Osman S.,Wang Xiaosheng,Ryan Éanna J.,Winter Des,Bakhiet Salih,Sheahan Kieran
Abstract
AbstractMolecular pathology services for colorectal cancer (CRC) in Sudan represent a significant unmet clinical need. In a retrospective cohort study involving 50 patients diagnosed with CRC at three major medical settings in Sudan, we aimed to outline the introduction of a molecular genetic service for CRC in Sudan, and to explore the CRC molecular features and their relationship to patient survival and clinicopathological characteristics. Mismatch repair (MMR) and BRAF (V600E) mutation status were determined by immunohistochemistry. A mismatch repair deficient (dMMR) subtype was demonstrated in 16% of cases, and a presumptive Lynch Syndrome (LS) diagnosis was made in up to 14% of patients. dMMR CRC in Sudan is characterized by younger age at diagnosis and a higher incidence of right-sided tumours. We report a high mortality in Sudanese CRC patients, which correlates with advanced disease stage, and MMR status. Routine MMR immunohistochemistry (with sequential BRAF mutation analysis) is a feasible CRC prognostic and predictive molecular biomarker, as well as a screening tool for LS in low-middle-income countries (LMICs).
Funder
Centre for Colorectal Disease at St Vincent’s University Hospital
Publisher
Springer Science and Business Media LLC