Sub-Saharan Sophageal Squamous Cell Carcinoma Molecular Analysis

Esophageal squamous cell carcinoma (ESCC) occurs as much as 20x more frequently in sub-Saharan Africa than Western countries. Through the UNC-Malawi project collaboration we obtained whole-exome matched tumor/normal and RNA sequencing of 59 ESCC from Malawi between 2011-2012. DNA analysis revealed similar mutations as other cohorts, while RNA analysis revealed three distinct subtypes. Mutational signature analysis revealed a pattern of mutation not previously reported in other cohorts or more broadly. Taken together this suggests the high prevalence of ESCC in the region is secondary to an as yet identified mutagen. ]]>
Patients were initially enrolled based on clinical presentation of symptoms suggestive of ESCC. Before biopsy, patients over 18 provided written consent. Biopsy was taken via endoscopy or surgical resection. Diagnosis was confirmed via histopathology review in Malawi and UNC. Approval by Malawi Ministry of Health and UNC IRB was obtained. ]]>