Clinical characterization and targeted genetic mutation profiling of autoimmune disease–associated B-cell lymphoma

This study investigated autoimmune diseases (ADs) clinical characteristics, their association with B-cell lymphoma (BCL), and related frequent genetic mutations. A retrospective review of 2,040 BCL patients at Henan Provincial People’s Hospital (2016–2022) identified 98 with concurrent ADs. Hashimoto’s thyroiditis was the most common AD identified, followed by Sjögren’s syndrome, rheumatoid arthritis, and autoimmune hemolytic anemia. The median interval from initial AD diagnosis to BCL development was 9 years, varying significantly across AD subtypes (P = 0.038). Marginal zone lymphoma (MZL) were more frequent in patients with Sjögren’s syndrome (P < 0.001) and inflammatory bowel disease (P = 0.03). BCL with concurrent ADs occurred more frequently in female patients (P = 0.009). These patients also exhibited higher levels of β2-microglobulin ≥ 2.5 mg/L (P = 0.001), demonstrated more frequent bone marrow infiltration (P = 0.017), and demonstrated a higher prevalence of gastrointestinal tract involvement (P = 0.033). However, the presence of concurrent ADs did not significantly affect overall BCL patient prognosis (P = 0.188). The next-generation sequencing (NGS) results indicate that the top four mutated genes identified in the AD-associated DLBCL cohort are B2M, BIRC3, RB1, and PLCG2. In the DLBCL cohort, the predominant mutated genes are KMT2C, EGR1, BCL2, and DDX3X. AD-associated BCL predominantly affects females, with more common bone marrow involvement. Hashimoto’s thyroiditis is the most prevalent AD type, with a 9-year median interval from AD diagnosis to BCL development. Concurrent ADs do not significantly impact BCL survival. Mutations in BIRC3, RB1, B2M, PLCG2, and EP300 are present in patients with AD-associated DLBCL.