Structural alterations in chronic lymphocytic leukaemia. Cytogenetic and FISH analysis
Por:
Travella, A, Ripolles, L, Aventin, A, Rodriguez, A, Bezares, RF, Caballin, MR, Slavutsky, I
Publicada:
1 jun 2013
Resumen:
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 2 microglobulin levels (3.3 vs 2.5 mu g/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. Copyright (c) 2012 John Wiley & Sons, Ltd.
Filiaciones:
Travella, A:
Acad Nacl Med Buenos Aires, CONICET, Inst Med Expt IMEX, Genet Lab, RA-1425 Buenos Aires, DF, Argentina
Ripolles, L:
Univ Autonoma Barcelona, Unidad Antropol Biol, Dept Biol Anim Biol Vegetal & Ecol, Bellaterra, Spain
Aventin, A:
Hosp Santa Creu & Sant Pau, Serv Lab Hematol, Barcelona, Spain
Rodriguez, A:
Acad Nacl Med Buenos Aires, Dept Hematooncol, Inst Invest Hematol, RA-1425 Buenos Aires, DF, Argentina
Bezares, RF:
Hosp Gen Agudos Dr Teodoro Alvarez, Serv Hematol, Buenos Aires, DF, Argentina
Caballin, MR:
Univ Autonoma Barcelona, Unidad Antropol Biol, Dept Biol Anim Biol Vegetal & Ecol, Bellaterra, Spain
Slavutsky, I:
Acad Nacl Med Buenos Aires, CONICET, Inst Med Expt IMEX, Genet Lab, RA-1425 Buenos Aires, DF, Argentina
Open Access
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