Cytogenetics in Waldenström Macroglobulinemia (WM)

Abstract

Cytogenetic studies have first described recurrent genomic abnormalities in WM, which may play a role in progression and treatment resistance of the disease. Chromosomal abnormalities are not specific to WM, but the frequency and association of these aberrations distinguish WM from other B-cell malignancies. Deletion of the long arm of chromosome 6 (6q deletion) is the most frequent abnormality. Trisomy 4, particularly associated with trisomy 18, is recurrent in WM. The prognostic signification of the deletion of the short arm of chromosome 17 (17p deletion) involving TP53 gene and trisomy 12 requires confirmation. While recent technological advances have dramatically improved our understanding of the molecular pathogenesis of the disease, it remains important to investigate additional abnormalities, such as gains and deletions, at both cytogenetic and genetic levels, in order to better characterize individual malignancies, toward personalized therapy.