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Structural alterations in chronic lymphocytic leukaemia. Cytogenetic and FISH analysis
Author(s) -
Travella Ana,
Ripollés Lorena,
Aventin Anna,
Rodríguez Andrea,
Bezares Raimundo F,
Caballín María R,
Slavutsky Irma
Publication year - 2013
Publication title -
hematological oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.918
H-Index - 44
eISSN - 1099-1069
pISSN - 0278-0232
DOI - 10.1002/hon.2025
Subject(s) - karyotype , chromosomal translocation , biology , cytogenetics , chromosome , beta 2 microglobulin , fluorescence in situ hybridization , chronic lymphocytic leukemia , medicine , pathology , gastroenterology , immunology , leukemia , genetics , gene
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) (29 months) than the control group (69 months) ( 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 β 2 microglobulin levels (3.3 vs 2.5 µg/mL) ( p = 0.037) than those with simple karyotypes. Furthermore, a shorter TFT (13 months) and overall survival (56 months) in the complex karyotypes group compared with controls (69 and 144 months, 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 © 2012 John Wiley & Sons, Ltd.