High-Resolution Analysis of Chromosomal Alterations in Adult Acute Lymphoblastic Leukemia

Abstract

Background: Chromosomal alterations occur frequently in acute lymphoblastic leukemia (ALL), affecting either the chromosome number or structural changes. These alterations can lead to inactivation of tumor suppressor genes and/or activation of oncogenes. The objective of this study was to identify recurrent and/or novel chromosomal alterations in adult ALL using single nucleotide polymorphism (SNP) array analysis. Methods: We studied 41 cases of adult ALL compared with healthy normal controls using SNP array. Results: Our analysis revealed 43 copy number variant regions, of which 44% were amplifications and 56% were deletions . The most common amplifications were on chromosome regions 8p23.1 (71%), 1q44 (66%), 1q23.3 (54%), 11q23.3 (54%), 12p13.33 (54%) and 8q24.21 (51%). On the other hand, the most common deletions were identified on chromosomes 1p31.1 (76%), 3q26.1 (68%), 11p11.12 (63%), 4q12 (59%), 19p13.2 (59%), 7q11.21 (56%), Xp22.33 (54%), 7q11.21 (51%) and 19p13.11 (51%). Conclusions: Amplification of chromosome 8p23.1 and deletion of chromosome 1p31.1 were the most frequently found alterations in this study. These chromosomal regions contain genes such as SPAG11B , DEFB104A , DEFB105A , DEFB107A , DEFB106A and SPAG11A . These potential genes may contribute to leukemogenesis in adult ALL. The cytogenetic and molecular mechanisms underlying these chromosome changes deserve further investigations. J Hematol. 2014;3(3):65-71 doi: http://dx.doi.org/10.14740/jh140w