【摘 要】
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Objective Somatic mutations of SF3B1 gene have recently been identified in hematopoietic malignancies.The frequency and clinical relevance of SF3B1 mutation
【机 构】
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Affiliated People's Hospital of Jiangsu University
【出 处】
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肿瘤多学科综合诊治新进展学术研讨会
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Objective Somatic mutations of SF3B1 gene have recently been identified in hematopoietic malignancies.The frequency and clinical relevance of SF3B1 mutations in acute myeloid leukemia (AML) and chronic myeloid leukemia (CML) are rarely studied.This study is aimed to investigate the frequency and clinical relevance of SF3B1 mutations in a cohort of patients with AML and CML.Methods High-resolution melting analysis (HRMA) was established to detect the mutation hotspots (codon E622,H662,K666,and K700) of SF3B1 gene in 275 patients with AML and 81 with chronic myeloid leukemia (CML).Results Heterozygous SF3B1 mutations were detected in three AML patients by HRMA.Direct DNA sequencing identified one K666T,one K666N and one K700E.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 last had NPM1 mutation.No SF3B1 mutations were detected in CML patients.Conclusions SF3B1 mutation is a rare molecular event in Chinese AML and CML patents.
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