SETBP1 Mutations in Chinese Patients with Acute Myeloid Leukemia and Myelodysplastic Syndrome

Publication date: Available online 7 March 2018
Source:Pathology - Research and Practice
Author(s): Xin-yu Yao, Jing-dong Zhou, Jing Yang, Wei Zhang, Ji-chun Ma, Xiang-mei Wen, Dong-ming Yao, Zi-jun Xu, De-hong Wu, Pin-fang He, Jun Qian, Jiang Lin
BackgroundSomatic mutations in SETBP1 gene have recently been detected in hematologic malignancies. The present study aimed to explore the frequency and clinical correlations of SETBP1 mutations in patients with acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS).MethodsIn this study, we used high-resolution melting analysis (HRMA) to detect the SETBP1 mutations in a cohort of 363 patients with AML or MDS.ResultsA total of 1.2% (3/249) of AML and 1.8% (2/114) of MDS patients were found with heterozygous SETBP1 mutations. In AML, patients with SETBP1 mutations showed higher hemoglobin (P = 0.004) and were more frequently recurrent in AML-M4 subtype (P = 0.034). All five SETBP1 mutated patients had normal karyotypes. The patients with SETBP1 mutations had significantly higher incidences of concurrent SRSF2 mutations (P = 0.002). HRMA could detect SETBP1 mutations with 5% sensitivity, obviously higher than 25% of Sanger sequencing.ConclusionsWe established a rapid, inexpensive, high-throughput and sensitive method to screen SETBP1 mutations. SETBP1 mutations were a rare molecular event in AML and MDS patients.



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