Insight into the molecular pathogenesis of hairy cell leukaemia, hairy cell leukaemia variant and splenic marginal zone lymphoma, provided by the analysis of their IGH rearrangements and somatic hypermutation patterns

摘要

Hairy cell leukaemia (HCL) is a rare B-cell malignancy that shares several features with a variant form, HCL-variant, and splenic marginal zone lymphoma (SMZL). Distinction of these three disorders at diagnosis can be difficult, but correct diagnosis is important due to differences in patient management and clinical outcome (Matutes et al, 2003). A fuller understanding of the relationship between these three disorders is needed to help in elucidating their cell of origin and aid in their differential diagnosis. The presence or absence of somatic hypermutation (SHM) in the immunoglobulin heavy chain (IGH) locus can be used as a tool to classify mature B-cell disorders based on their developmental status in relation to the germirial centre (GC) of the lymphoid follicles (Kuppers et al, 1999). In addition, analysis of IGH variable (IGHV), diversity (IGHD) and joining (IGHJ) gene usage can provide information about immunological features underlying disease pathogenesis.