title: Abnormalities of chromosomes 1p34-36, 4p16, 4q35, 9q11-32 and +7 represent novel recurrent cytogenetic rearrangements in chronic lymphocytic leukemia.
abstract: Karyotypes were studied in over 250 cases of CLL seen at our Institution and 12 cases with a previously undescribed chromosome abnormality were identified. Cytogenetic and clinicobiological features in these patients are described. Fluorescence in situ hybridization using probes for the detection of +12 and deletions of 13q14, 17p13, and 11q22-23 was performed. Hematologic and clinical data were reviewed and a review of the literature was performed. Twelve patients were found carrying the following aberrations in the stemline: abnormalities at 1p34 (n = 2), 4p16 (n = 2), 4q35 (n = 2), 9q11-32 (n = 4) and +7 (n = 2). Trisomy 12 was found in 3 cases, whereas no case carried 13q-, 11q-, 17p-. Our data showed that (i) aberrations involving 1p34 and 4p16 as isolated chromosome anomalies were preferentially associated with early stage disease; (ii) 4q35 anomalies were associated with a relatively aggressive disease, atypical morphology and with monoclonal gammopathy; (iii) rearrangements of 9q were characterized by atypical morphology and aggressive disease with splenic involvement; (iv) +7 be may associated with +12. 1p34-36; 4p16; 4q35; 9q and chromosome 7 represent novel recurrent rearranged sites in CLL, with a 0.5-3% incidence. Transformation in these patients seemingly occured through a cytogenetic route not involving the classical CLL-associated chromosome regions. These chromosome rearrangements may be associated with peculiar hematologic features.
authors.affiliation: Dipartimento di Scienze Biomediche e Terapie Avanzate--Sezione di Ematologia, University of Ferrara, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Cavazzini
authors.forename: Antonio
authors.initials: A
authors.lastname: Cuneo
authors.forename: Cristiano
authors.initials: C
authors.lastname: de Angeli
authors.forename: Antonella
authors.initials: A
authors.lastname: Bardi
authors.forename: Paola
authors.initials: P
authors.lastname: Agostini
authors.forename: Elisa
authors.initials: E
authors.lastname: Tammiso
authors.forename: Gian Matteo
authors.initials: GM
authors.lastname: Rigolin
authors.forename: Gianluigi
authors.initials: G
authors.lastname: Castoldi
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D020732:Cytogenetic Analysis; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009364:Neoplasm Recurrence, Local / Q000235:genetics / Q000473:pathology