Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature
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RESEARCH
Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature review Meng Liu1,2, Yuan Ren1,2, Xianfu Wang2, Xianglan Lu2, Ming Li2,3, Young Mi Kim2, Shibo Li2 and Lijun Zhang1*
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 with 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: Conventional cytogenetic studies were performed among 1,824 AML patients recorded in our oncology database over the last 20 years. Fluorescence in situ hybridization (FISH) was carried out to detect the translocation fusion. Array comparative genome hybridization (aCGH) was carried out to further characterize the duplication of chromosomes. Results: We identified three AML patients with t(8;16)(p11.2;p13.3) by chromosome analysis. Two of the three patients, who harbored an additional 1q duplication, were detected by FISH and aCGH. aCGH characterized a 46.7 Mb and 49.9 Mb gain in chromosome 1 at band q32.1q44 separately in these two patients. One patient achieved complete remission (CR) but relapsed 3 months later. The other patient never experienced CR and died 2 years after diagnosis. Conclusion: A 1q duplication was detected in two of three AML patients with t(8;16)(p11.2;p13.3), suggesting that 1q duplication can be a recurrent event in AML patients with t(8;16). In concert with the findings of previous studies on similar patients, our work suggests that 1q duplication may also be an unfavorable prognostic factor of the disease. Keywords: 1q duplication, Acute myeloid leukemia, t(8;16)(p11.2;p13.3), Prognostic factor Background Acute myeloid leukemia (AML) is a common disease characterized by immature myeloid cell proliferation and bone marrow failure, which can be subdivided into 9–11 pathogenetically different subtypes [1]. Over the past two decades, the incidence has increased by 30% [2, 3]. Furthermore, AML has poor long-term survival with a *Correspondence: [email protected] 1 Department of Hematology, The First Hospital of China Medical University, 155 Nanjing North Street, Shenyang 110000, Liaoning, People’s Republic of China Full list of author information is available at the end of the article
high relapse rate [4]. Therefore, AML represents a substantial health problem that requires strict monitoring and innovative treatment strategies. The development of newer, effective treatment strategies is necessary for AML patients. To date, the detection of cytogenetic abnormalities has been regarded as a critical prognostic tool for AML treatment [5]. Hence, it is urgently necessary to identify chromosomal rearrangements in AML patients and provide the whole spectrum of cytogenetic abnormalities for AML
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