Structural alterations in chronic lymphocytic leukaemia. Cytogenetic and FISH analysis

• Autores: Travella, Ana Carolina; Ripollés, Lorena; Aventin, Anna; Rodríguez, Andrea; Bezares, Raimundo F.; Caballín, María R.; Slavutsky, Irma Rosa
• Año de publicación: 2013
• Idioma: inglés
• Tipo de recurso: artículo
• Materia: Chronic Lymphocytic Leukaemia; Complex Karyotypes; Cytogenetics; Fish
• Institución: Consejo Nacional de Investigaciones Científicas y Técnicas

In this study, we described cytogenetics and fluorescence in situ hybridization (FISH) analysis performed in chronic lymphocytic leukaemia (CLL) patients with structural alterations. Results were correlated with clinical characteristics. A total of 38 CLL patients: 16 cases with complex and 22 with simple karyotypes were studied. For comparison of clinical parameters, a control group of 78 CLL patients with normal karyotype and without FISH genomic alterations were also evaluated. We found 38 structural abnormalities not previously described in the literature, 28 (74%) of them were translocations. In cases with complex karyotypes, chromosomes 6, 8 and 13 were the most frequently involved in new alterations (nine each), followed by chromosomes 12, 14 and 15 (six each). Chromosome 8p was particularly involved in losses, being 8p21-pter the commonest region of overlap. Cases with simple karyotypes, showed del(6q) as the most frequent alteration (39%). Del(9)(q11) was recurrent in our series. Analysis of clinical parameters showed significant differences in white blood count (p=0.005) and platelet count (p=0.015) between patients with structural alterations and the control group. In addition, patients with structural alterations had a significantly shorter time to first treatment (TFT) (29months) than the control group (69months) (p=0.037). Cases with complex karyotypes had a lower proportion of patients in Rai 0 clinical stage (15.4% vs 75%) (p=0.005) and higher β2 microglobulin levels (3.3 vs 2.5μg/mL) (p=0.037) than those with simple karyotypes. Furthermore, a shorter TFT (13months) and overall survival (56months) in the complex karyotypes group compared with controls (69 and 144months, respectively) (p=0.015 and p=0.005, respectively) were also found. Our results support the importance of cytogenetic analysis for clinical outcome in CLL and suggest that the diversity of genomic alterations is much greater than previously appreciated. © 2012 John Wiley & Sons, Ltd.
Fil: Travella, Ana Carolina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: Ripollés, Lorena. Universitat Autònoma de Barcelona; España
Fil: Aventin, Anna. Hospital de Sant Pau; España
Fil: Rodríguez, Andrea. Academia Nacional de Medicina de Buenos Aires; Argentina
Fil: Bezares, Raimundo F.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Dr. Teodoro Álvarez"; Argentina
Fil: Caballín, María R.. Universitat Autònoma de Barcelona; España
Fil: Slavutsky, Irma Rosa. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina