Abstract: Objective:To evaluate the feasibility of the Ion Torrent PGMTM sequencing technology for detecting gene mutation in patients with acute myeloid leukemia (AML). Methods: Mutational hotspots of 50 cancer related genes in pretherapeutic bone marrow DNA samples from 27 AML patients were detected by Ion Torrent PGMTM technology. Then, Sanger sequencing was used to verify the corresponding mutations in FMS-related tyrosine kinase 3 (FLT3) and nucleophosmin 1 (NPM1) genes. Results:Twenty nine mutational sites from 17 of 50 cancer related genes were identified by Ion Torrent PGMTM technology. There were multiple mutations in the same gene, and most of them were single base substitution. The highest mutation frequency was from NPM1 gene (22.2%) and the following by FLT3 (18.5%). The consistency of Ion Torrent PGMTM and Sanger sequencing was 100% in NPM1 gene, while in FLT3, one positive for Sanger sequencing but negative for Ion Torrent PGMTM. Conclusion:Mutation spectrum of AML patients may be obtained during short time by Ion Torrent PGMTM technology. However, the detection of long fragment insertion or deletion by Ion Torrent PGMTM needs to be improved.
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阴常欣,吴福群,曹睿,江雪杰,余国攀,何涵,孟凡义. Ion Torrent PGMTM测序在急性髓系白血病检测中的应用[J].临床检验杂志,2015,(5):333-336