Classic and molecular cytogenetic analysis of B chronic lymphoproliferative disorders

Haema 2013; 4(2):128-134

by Anastasia Athanasiadou

Hematology Department and Hematopoietic Cell Transplantation (HCT) Unit, “G Papanicolaou” General Hospital, Thessaloniki, Greece

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Chronic lymphoproliferative disorders represent a heterogeneous group of diseases characterized by uncontrolled proliferation and accumulation of malignant mature lymphoid cells. Although usually classified as low-grade malignancies with relatively prolonged survival, certain histotypes are aggressive and associated with inferior outcome. Recent developments in molecular biology, classical and molecular cytogenetics (FISH) and comparative genomic hybridization (CGH) techniques, along with an in-depth analysis of the cell phenotype, have contributed significantly to our understanding of these entities. In particular, it is now established that cytogenetic investigation is of great diagnostic value and also provides important prognostic information, which may be used for patient stratification in risk groups and design of the therapeutic strategy: for instance, deletion of chromosome 17p in chronic lymphocytic leukemia is now considered as an independent adverse prognostic factor associated with refractoriness to purine analogs. Furthermore, molecular analysis of cytogenetic aberrations has proven of critical importance in elucidating important disease pathways and identifying possible therapeutic targets.