title: Clinicobiologic importance of cytogenetic lesions in chronic lymphocytic leukemia.
abstract: 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.
authors.affiliation: Section of Hematology, Department of Biomedical Sciences and Advanced Therapies, University of Ferrara, Via Savonarola 9, Ferrara, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Cavazzini
authors.forename: Maria
authors.initials: M
authors.lastname: Ciccone
authors.forename: Massimo
authors.initials: M
authors.lastname: Negrini
authors.forename: Gian Matteo
authors.initials: GM
authors.lastname: Rigolin
authors.forename: Antonio
authors.initials: A
authors.lastname: Cuneo
mesh_terms: D020732:Cytogenetic Analysis; D006801:Humans; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*