title: Clinical, immunophenotypic, and molecular profiling of trisomy 12 in chronic lymphocytic leukemia and comparison with other karyotypic subgroups defined by cytogenetic analysis.
abstract: In a cohort of 130 unselected chronic lymphocytic leukemia (CLL) patients, 73 cases had normal karyotypes, 57 cases had abnormal karyotypes, and 22/57 cases carried more than one abnormality. Trisomy 12 (+12) was the most common abnormality (26/130 cases; 20%), and 17/26 cases had isolated +12. Del(13q)/t13q/-13 was detected in 19/130 cases (14.6%), and 5/19 cases had isolated del(13)(q12q14). Deletion (11)(q23) and del(17p)/-17 were detected in 5/130 cases, respectively. CD38 expression was significantly more frequent in the +12/11q/17p versus the normal/del(13q) subgroups. A significant association was detected between +12 and FMC7 positivity. IGHV-unmutated cases were significantly more frequent in the +12/11q/17p subgroups. Patients with normal karyotype/del(13q) had a longer median time to progression versus the patients in the +12/11q/17p subgroups. According to multivariate analysis, only IGHV mutation status remained a statistically significant variable for progression-free survival (PFS). Furthermore, IGHV mutation status and clinical stage at diagnosis were the only significant prognostic factors for overall survival. Among Binet-A patients, significant parameters for shorter PFS were +12 or 11q/17p aberrations, CD38 expression, and IGHV unmutated status. In multivariate analysis, only CD38 expression and IGHV-unmutated status retained statistical significance for PFS. In conclusion, trisomy 12 in CLL is characterized by considerable heterogeneity and seems to be associated with disease progression.
authors.affiliation: Laboratory of Cytogenetics and Molecular Genetics, School of Medicine, University of Thessaly, Mezourlo, 41222 Larissa, Greece. stavstam@otenet.gr
authors.forename: Anastasia
authors.initials: A
authors.lastname: Athanasiadou
authors.forename: Kostas
authors.initials: K
authors.lastname: Stamatopoulos
authors.forename: Aliki
authors.initials: A
authors.lastname: Tsompanakou
authors.forename: Maria
authors.initials: M
authors.lastname: Gaitatzi
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Kalogiannidis
authors.forename: Achilles
authors.initials: A
authors.lastname: Anagnostopoulos
authors.forename: Athanasios
authors.initials: A
authors.lastname: Fassas
authors.forename: A
authors.initials: A
authors.lastname: Tsezou
mesh_terms: D000328:Adult; D000368:Aged; D002478:Cells, Cultured; D002869:Chromosome Aberrations; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D018450:Disease Progression; D005260:Female; D006801:Humans; D007136:Immunoglobulins / Q000235:genetics; D016130:Immunophenotyping; D007621:Karyotyping; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D016019:Survival Analysis; D014314:Trisomy / Q000235:genetics*
chemical_list: D007136:Immunoglobulins