Genomic Sequencing Insights Into a Rare Case of High-Risk Diffuse Large B-cell Lymphoma (DLBCL) Associated With Rubinstein-Taybi Syndrome

We report a rare case of a Rubinstein-Taybi syndrome (RSTS) patient who developed diffuse large B-cell lymphoma (DLBCL). RSTS is a very rare, genetic, developmental disease. RSTS patients have been reported to have some predilection for certain cancers. The patient had both germline and somatic mutations in the <i>CREBBP</i> (cyclic-AMP-regulated enhancer-binding protein) gene. <i>CREBBP</i> has been reported to be associated with poor prognosis and less response to chemotherapy. We treated the patient with Rituxan with EPOCH (R-EPOCH) with excellent response. Based on the rarity of this diagnosis and the development of lymphoma in this patient, we sought to establish a genomic connection between RSTS and its association with high-risk DLBCL. The distinct response observed in this case warrants further investigation into the potential benefits of intensified therapies in DLBCL patients harboring specific genetic alterations such as <i>CREBBP</i>.