Intracytoplasmic filamentous inclusions and IGHV rearrangements in a patient with chronic lymphocytic leukemia

Abstract

Chronic lymphocytic leukemia (CLL) represents the most common leukemia in the Western world, accounting for 30-40% of all adult leukemias. The disease is characterized by a highly variable clinical course, ranging from indolent cases to patients with aggressive and rapidly progressing disease. Although staging systems are reliable predictors of outcome, they do not fully explain the heterogeneity in treatment response and survival. In the last decades, several prognostic biomarkers have been identified, allowing the subdivision of this heterogeneous disease into clinical relevant subgroups. Among them, genomic alterations and the IGHV (immunoglobulin heavy chain variable region) mutational status are of significance. Particularly, recurrent cytogenetic abnormalities namely deletions of chromosomes 11q, 13q and 17p and, trisomy 12, define subgroups of patients with different clinical behavior and response to treatment while IGHV mutational status permits to distinguish two major CLL subtypes, mutated (M) associated with a good prognosis, and unmutated (UM), characterized by a poor clinical evolution.