First reported case of splenic diffuse red pulp small B-cell lymphoma with novel mutations in CXCR4 and TRAF3 genes

Splenic diffuse red pulp small B-cell lymphoma (SDRPL) is a rare B-cell tumor whose genetic characteristics are poorly understood. Here, we introduce the case of a 62-year-old patient with SDRPL who showed progressive elevation of lymphocytes and progressive spleen enlargement. Immunohistochemistry showed that CD20 and CD79a were positive, and the Ki-67 labelling index was approximately 5%, consistent with the pathological features of splenic B-cell lymphoma. Spleen tissue and peripheral blood samples from the patient were sequenced using a next-generation sequencing platform, and mutations possibly were detected in the CXCR4 and TRAF3 genes that may be related to the pathogenesis of the disease. This finding may provide insights into the molecular pathogenesis of SDRPL and assist in molecular diagnosis and targeted therapy for SDRPL.