title: Chronic lymphocytic leukemia with 6q- shows distinct hematological features and intermediate prognosis.
abstract: Cytogenetic and fluorescence in situ hybridization studies were successfully performed in 217 chronic lymphocytic leukemia (CLL). In all, 13 patients with 6q21 deletion were identified and characterized in comparison with 92 patients with 'favourable' karyotype (normal or 13q-), 69 cases with 'intermediate risk' (1-2 anomalies) and 43 cases with 'unfavourable' karyotype (complex, 11q- or 17p-). Six out of 13 cases with 6q- showed an excess of atypical lymphocytes, a finding confirmed at the histologic level; >20% CD38+ cells were seen in 5/6 cases. IGVH mutational status revealed >98% homology to the germline sequence in 4/10 cases. When compared with the 'favourable' group, patients with 6q- showed a higher white blood cell (WBC) count, frequent splenomegaly, atypical morphology, CD38+ and short time from diagnosis to first treatment and short survival. A higher median WBC count was found in the 6q- group vs the intermediate-risk group; survival was shorter in the unfavourable group. To ascertain if the 6q- anomaly was an independent factor predicting for an inferior outcome among those patients with 'favourable' cytogenetics, we performed an analysis of prognostic factors in 105 patients (92 'favourable' plus 13 with 6q-), showing that the 6q- chromosome maintained its prognostic significance at multivariate analysis (P=0.02) along with stage (P=0.01). We conclude that CLL with 6q- is characterized by a high incidence of atypical morphology, classical immunophenotype with CD38 positivity and intermediate incidence of IGVH somatic hypermutation. Clinicobiological features and outcome show that this cytogenetic subset of CLL should be allocated in an intermediate-risk category.
authors.affiliation: Dipartimento di Scienze Biomediche e Terapie Avanzate, Sezione di Ematologia, Ferrara, Italy. sse@dns.unife.it
authors.forename: A
authors.initials: A
authors.lastname: Cuneo
authors.forename: G M
authors.initials: GM
authors.lastname: Rigolin
authors.forename: R
authors.initials: R
authors.lastname: Bigoni
authors.forename: C
authors.initials: C
authors.lastname: De Angeli
authors.forename: A
authors.initials: A
authors.lastname: Veronese
authors.forename: F
authors.initials: F
authors.lastname: Cavazzini
authors.forename: A
authors.initials: A
authors.lastname: Bardi
authors.forename: M G
authors.initials: MG
authors.lastname: Roberti
authors.forename: E
authors.initials: E
authors.lastname: Tammiso
authors.forename: P
authors.initials: P
authors.lastname: Agostini
authors.forename: M
authors.initials: M
authors.lastname: Ciccone
authors.forename: M
authors.initials: M
authors.lastname: Della Porta
authors.forename: A
authors.initials: A
authors.lastname: Tieghi
authors.forename: L
authors.initials: L
authors.lastname: Cavazzini
authors.forename: M
authors.initials: M
authors.lastname: Negrini
authors.forename: G
authors.initials: G
authors.lastname: Castoldi
mesh_terms: D036541:ADP-ribosyl Cyclase / Q000235:genetics / Q000378:metabolism; D051997:ADP-ribosyl Cyclase 1; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015703:Antigens, CD / Q000235:genetics / Q000378:metabolism; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005260:Female; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics / Q000378:metabolism; D007135:Immunoglobulin Variable Region / Q000235:genetics / Q000378:metabolism; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase / Q000235:genetics; D007621:Karyotyping; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins; D008875:Middle Aged; D011379:Prognosis; D015996:Survival Rate
chemical_list: D015703:Antigens, CD; D007143:Immunoglobulin Heavy Chains; D007135:Immunoglobulin Variable Region; D008562:Membrane Glycoproteins; D036541:ADP-ribosyl Cyclase; C498154:CD38 protein, human; D051997:ADP-ribosyl Cyclase 1