title: Genetic abnormalities and clinical outcome in chronic lymphocytic leukemia.
abstract: B-cell chronic lymphocytic leukemia (B-CLL) is the most common leukemia in the elderly population. Under conventional cytogenetic (CC) analysis, approximately 50% of CLL cases show clonal aberrations. Using fluorescent in situ hybridization (FISH), the percentage of patients with abnormalities rises to almost 80%, the most frequent being 13q14, ATM, and TP53 deletions and trisomy 12. The aim of this study was to establish the incidence of genetic changes in B-CLL patients using CC and FISH and to evaluate the prognostic implications. Of the 65 patients analyzed, genetic aberrations were found in 36.7% with CC and in 68.4% with FISH. The frequencies of abnormalities were as follows: 13q deletion, 42.1%; trisomy 12, 19.2%; ATM deletion, 17.5%; and TP53 deletion, 8.7%. Significant differences were observed when the overall survival was correlated with Rai stage (P = 0.000). FISH abnormalities were correlated with age, sex, morphology, white blood cell count, CD38 expression, Rai stage, disease status, and survival. Significant differences were obtained with age (P = 0.05) and disease status (P = 0.01). Deletion of 13q was the most frequent abnormality (36.6%) among old patients (> or =60); trisomy 12 was the most frequent (31.3%) in younger patients (<60). Half of the patients with stable disease showed 13q deletion, and the most frequent abnormality in patients with progressive disease was ATM deletion (22.2%).
authors.affiliation: Anthropologic Biology Unit, Animal Biology, Vegetal Biology and Ecology Department, Autonomus University of Barcelona, Edifici C, 08193 Bellaterra, Barcelona, Spain.
authors.forename: Lorena
authors.initials: L
authors.lastname: Ripollés
authors.forename: Margarita
authors.initials: M
authors.lastname: Ortega
authors.forename: Francisco
authors.initials: F
authors.lastname: Ortuño
authors.forename: Ana
authors.initials: A
authors.lastname: González
authors.forename: Jesús
authors.initials: J
authors.lastname: Losada
authors.forename: Jesús
authors.initials: J
authors.lastname: Ojanguren
authors.forename: Joan Alfons
authors.initials: JA
authors.lastname: Soler
authors.forename: Juan
authors.initials: J
authors.lastname: Bergua
authors.forename: Maria Dolors
authors.initials: MD
authors.lastname: Coll
authors.forename: María Rosa
authors.initials: MR
authors.lastname: Caballín
mesh_terms: D051997:ADP-ribosyl Cyclase 1 / Q000032:analysis; D000328:Adult; D000368:Aged; D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins / Q000235:genetics; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D004268:DNA-Binding Proteins / Q000235:genetics; D018450:Disease Progression; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D053208:Kaplan-Meier Estimate; D007621:Karyotyping; D015448:Leukemia, B-Cell / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D011379:Prognosis; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy; D016159:Tumor Suppressor Protein p53 / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D016159:Tumor Suppressor Protein p53; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases; D051997:ADP-ribosyl Cyclase 1