Characterization of 1q Duplication by Array Comparative Genomic Hybridization in Acute Myeloid Leukemia Patients with t(8;16)(p11.2;p13.3)

Abstract

Background: Acute myeloid leukemia (AML) is a complex hematological disease characterized by genetic and clinical heterogeneity. The identification and understanding of chromosomal abnormalities are important for the diagnosis and management of AML patients. Compared to recurrent chromosomal translocations in AML, t(8;16)(p11.2;p13.3) can be found in any age group, but is very rare and typically associated with poor prognosis. Methods: Cytogenetic studies were performed among 1,824 AML patients from our oncology database in the last 20 years by karyotype analysis. Fluorescence in situ hybridization (FISH) was used to further confirm the chromosomal translocation fusion. Array comparative genome hybridization (aCGH) was carried out to characterize the additional chromosomal segments in patients with t(8;16)(p11.2;p13.3). Results: Three patients with t(8;16)(p11.2;p13.3) were identified. One patient was pure t(8;16)(p11.2;p13.3), and the other two had an additional chromosomal anomaly of 1q duplication. Interestingly, the molecular size and position of this 1q duplication were similar in both patients, showing as 46.7 Mb and 49.9 Mb, respectively. Conclusion: 1q duplication is a recurrent event in AML patients with t(8;16)(p11.2;p13.3), indicating it could also play a role of an unfavorable prognostic factor.