Intérêt de la cytogénétique et de la biologie moléculaire pour le diagnostic des syndromes lymphoprolifératifs B

Chronic lymphoproliferative disorders are clonal B neoplasms with heterogeneous clinical, biological, histological and genetic features. Morphology and immunophenotype (flow cytometry) are sufficient for the diagnosis of most cases however genetics and molecular analysis bring some help in borderline cases. For chronic lymphocytic leukaemia (CLL) these tools are needed to classify the patients into prognostic groups to evaluate new therapeutic strategies. In this review, we show on the one hand, the interest of cytogenetic and molecular biology as complementary diagnostic tools to detect clonal B malignancies, and on the other hand, the interest of these tools in CLL prognosis, in particular IGHV and TP53 mutational status and genetic abnormalities detected with fluorescent in situ hybridization (FISH).