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Clin Biochem. 2013 May;46(7-8):701-3. doi: 10.1016/j.clinbiochem.2013.01.023. Epub 2013 Feb 5.

SF3B1 mutation is a rare event in Chinese patients with acute and chronic myeloid leukemia.

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  • 1Department of Hematology, Affiliated People's Hospital of Jiangsu University, Zhenjiang, Jiangsu 212002, People's Republic of China.



Somatic 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.


High-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.


Heterozygous 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.


SF3B1 mutation is a rare molecular event in Chinese AML and CML patients.

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