Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations.

Abstract Recent studies identified germline mutations in HAVCR2 (encoding TIM-3) as a genetic factor that predisposes to subcutaneous panniculitis-like T-cell lymphoma (SPTCL). However, the differences between HAVCR2-mutated (HAVCR2MUT) and HAVCR2-wild-type (HAVCR2WT) SPTCLs remain unclear. A nationwide cohort of 53 SPTCL patients diagnosed at eight Korean institutions was established. Whole-exome sequencing (WES) and RNA-seq were performed on eight patients in the discovery set. In the validation set, targeted gene sequencing (TGS) or direct sequencing of HAVCR2 was performed. Of 49 patients with available HAVCR2 status, 25 (51.0%) were HAVCR2Y82C. HAVCR2Y82C was associated with younger age (p = 0.001), development of hemophagocytic lymphohistiocytosis (HLH) or HLH-like systemic illness (p