Clinicobiologic importance of cytogenetic lesions in chronic lymphocytic leukemia

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BlankClinicobiologic importance of cytogenetic lesions in chronic lymphocytic

leukemia.

F Cavazzini, M Ciccone, M Negrini, GM Rigolin, and A Cuneo

Expert Rev Hematol, June 1, 2009; 2(3): 305-14.

Section of Hematology, Department of Biomedical Sciences and Advanced Therapies,

Italy.

Molecular cytogenetic lesions play a major role in the pathogenesis of chronic

lymphocytic leukemia (CLL) and represent important prognostic markers. Besides

FISH, conventional banding analysis using effective mitogens is important for an

accurate assessment of the cytogenetic profile of CLL. The most frequent

aberrations are represented by 13q-, 11q-, +12, 6q- and 14q32/IGH translocations

and 17p-. Chromosome translocations and complex karyotype may occur in up to 30

and 16% of the cases, respectively. The frequency of 17p- and 11q- is higher in

patients requiring treatment and in relapsed/refractory patients, reflecting the

association of these rearrangements with unfavorable prognosis. Mutations of the

TP53 gene may also confer an inferior outcome, as is the case with 14q32

translocations and unbalanced translocations. Evidence was provided that

distinct treatment approaches may be effective in specific cytogenetic entities

of CLL, making molecular cytogenetic investigations a necessary tool for a

modern diagnostic work-up in CLL.

PMID: 21082972