SF3B1 mutation is a rare event in Chinese patients with acute and chronic myeloid leukemia |
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| Authors: | Jing Yang Jun Qian Dong-ming Yao Si-xuan Qian Wei Qian Jiang Lin Gao-fei Xiao Cui-zhu Wang Zhao-qun Deng Ji-chun Ma Xing-xing Chen |
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| Affiliation: | 1. Department of Hematology, Affiliated People''s Hospital of Jiangsu University, Zhenjiang, Jiangsu 212002, People''s Republic of China;2. Laboratory Center, Affiliated People''s Hospital of Jiangsu University, Zhenjiang, Jiangsu 212002, People''s Republic of China;3. Department of Laboratory Medicine, Affiliated People''s Hospital of Jiangsu University, Zhenjiang, Jiangsu 212002, People''s Republic of China;4. Department of Hematology, The First Affiliated Hospital of Nanjing Medical Hospital, Jiangsu Province Hospital, Nanjing, Jiangsu 210029, People''s Republic of China;1. Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan;2. Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan;3. Headquarters of the Research Center, Kaohsiung Medical University, Kaohsiung, Taiwan;4. Institute of Medical Science and Technology, National Sun Yat-sen University, Kaohsiung, Taiwan;5. Department of Pathology, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan;6. Division of Laboratory Medicine, Asia University Hospital, Asia University, Taichung, Taiwan;7. Department of Food Nutrition and Health Biotechnology, Asia University, Taichung, Taiwan;8. Department of Biotechnology, Asia University, Taichung, Taiwan |
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| Abstract: | ObjectiveSomatic mutations of SF3B1 gene have recently been identified in myelodysplastic syndrome and chronic lymphocytic leukemia. The frequency and clinical relevance of SF3B1 mutations have been rarely studied in acute myeloid leukemia (AML) and chronic myeloid leukemia (CML). The present study was aimed to analyze the frequency of SF3B1 mutations in AML and CML.Designs and methodsHigh-resolution melting analysis (HRMA) was established to detect the mutation hotspots (codon E622, H662, K666, and K700) of SF3B1 gene in 275 AML and 81 CML patients.ResultsHeterozygous SF3B1 mutations were detected in three AML patients by HRMA. Direct DNA sequencing identified one K666T, one K666N and one K700E mutations. All three AML patients had normal karyotypes. One case also had NPM1 and DNMT3A mutations, one had FLT3 internal tandem duplication and DNMT3A mutations, and the other had NPM1 mutation. No SF3B1 mutations were detected in CML patients.ConclusionsSF3B1 mutation is a rare molecular event in Chinese AML and CML patients. |
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