Cytogenetics in CLL and related disorders

Chromosome analysis of more than 1200 patients with chronic lymphocytic leukaemia reported to the International Working Party on Chromosomes in CLL and in the literature is analysed. Clonal chromosomal abnormalities are found in about half of the patients, and one third of those with clonal aberrations have trisomy 12, with or without additional changes. The most common structural abnormalities involve the long arm of chromosome 13, usually as deletions involving 13q14, the site of the retinoblastoma gene. Other recurrent abnormalities are deletions of the long arms of chromosome 11 and 6. 14q+ markers are frequent in patients at advanced stage, but are almost always within complex abnormalities. The number of clonal abnormalities in the CLL cells has a strong prognostic impact. Trisomy 12 as a single abnormality is an adverse prognostic sign, whereas patients with 13q abnormalities generally do comparatively well. Lymphoid leukaemia with monoclonal immunoglobulin secretion frequently involves clonal chromosomal abnormalities, and the type of change is similar to that seen in true CLL. In B cell prolymphocytic leukaemia, t(11;14) is a common finding, together with trisomy 12. T cell prolymphocytic leukaemia is characterized by an inversion of the long arm of chromosome 14, with breaks at q11 and q32, and trisomy of 8q, whereas large granular lymphocytic leukaemia has shown no consistent abnormality. Hairy cell leukaemia seems to involve a specific set of non-random chromosome abnormalities, such as inv(5)9.