A Preliminary Investigation on the Chromosome Aberrations in Acute Lymphoblastic Leukaemia Using Multiprobe Fluorescence In Situ Hybridization Panel

Abstract

Objective:Acute lymphoblastic leukemia (ALL) is a disease related to the overproduction of immature lymphocytes. For diagnosis and classification of ALL, recognizing chromosome aberrations using conventional cytogenetic analysis (CCA) is essential. However, limited ability of CCA to capture cryptical chromosomal aberrations is a major drawback. The aim of this study was to investigate recurrent aberrations in patients with ALL with normal karyotype or unsuccessful karyotyping using the fluorescence in situ hybridization (FISH) method.Methods:Ten patients with ALL were included in this study. CCA was done according to the standart protocols, and then, multiprobe FISH panel was used for analyzing different chromosomal regions located on 12p13.2/21q22.12, 9q34.11-q34.12/22q11.22-q11.23, 9p21.3, 19p13.3, 11q23.3, 8q24.21, 14q32.33, 10p11.1-q11.1, 17p11.1-q11.1 and 4q12.Results:Analyses of the specific chromosomal regions with FISH assay revealed undetected chromosome rearrangements. Among all the cases, four of them harbored chromosomal abnormalities. MYC, TCF3, IGH rearrangements, CDKN2A deletion and hyperdiploidy were detected in the study.Conclusion:Diagnostic sensitivity of FISH probes in comparison with CCA is effective in the detection of multiple chromosomal rearrangements with prognostic significance. For the improvement of the cytogenetic examination and achieving optimum results for patients with ALL , FISH panels are needed to be used combining with conventional cytogenetics routinely.

Keywords

• acute lymphoblastic leukemia
• cytogenetics
• fluorescence in situ hybridization
• chromosome aberrations