Unraveling the Mechanism of Response: Genomic Sequencing Insights into a Rare Case of Rubinstein-Taybi Syndrome-Associated High-Risk Diffuse Large B-Cell Lymphoma

Background Rubinstein-Taybi syndrome (RSTS) is a very rare, genetic, developmental disease. RSTS patients have been reported to have some predilection to certain cancers. We report a rare case of Rubinstein-Taybi syndrome patient that developed Diffuse large B cell lymphoma (DLBCL). Case Presentation Patient had both germline and somatic mutation in CREBBP (the cyclic-AMP-regulated enhancer-binding protein) gene. CREBBP has been reported to be associated with poor prognosis and less response to chemotherapy. We treated the patient with R-EPOCH with excellent response. Based on the rarity of this diagnosis and development of lymphoma in this patient, we sought to establish a genomic connection between Rubinstein-Taybi Syndrome 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 diffuse large B-cell lymphoma patients harboring specific genetic alterations like CREBBP as seen in this case. Conclusions This case report gives Genomic Sequencing Insights into a Rare Case of Rubinstein-Taybi Syndrome-associated high-risk Diffuse Large B-Cell Lymphoma.