Transcriptomical characterization of T-Large Granular Lymphocyte Leukemia (T-LGLL) patients having different STAT3/STAT5B genetic status and clinical manifastations

T-Large Granular Lymphocyte Leukemia is a rare lymphoproliferative disorder characterized by the abnormal clonal expansion of cytotoxic T-LGL. The immunophenotype, clinical presentation, and prognosis are associated with activating mutations in STAT3 and STAT5B genes, which define four distinct subsets of the disease: CD8+ with STAT3 mutation, CD8+ wild-type, CD4+ with STAT5B mutation, and CD4+ wild-type. RNA-seq data analysis of these patients reveals aberrant genes and non-coding RNA expression, pathways dysregulation, and the peculiarities of STAT3 mutated cases, which are associated with severe symptoms. This study offers new insights into the pathogenesis and clinical characteristics of T-LGLL patients, highlighting potential new targetable oncogenic axes for this disease.