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