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

Year: 2025

Type: article

Abstract: 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 CREBBP (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 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 CREBBP.

Source: Cureus

DOI: 10.7759/cureus.91682

Authors: Sreeja Ponnam, Prathima Guntipalli, Supriya Koya

Institutions: University of Missouri–Kansas City, Larkin Community Hospital, OU Health Stephenson Cancer Center, University of Oklahoma Health Sciences Center

Language: English

Topic: Lymphoma Diagnosis and Treatment

Subfield: Pathology and Forensic Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4414007592