Yao Xin-Yu, Zhou Jing-Dong, Yang Jing, Zhang Wei, Ma Ji-Chun, Wen Xiang-Mei, Yao Dong-Ming, Xu Zi-Jun, Wu De-Hong, He Pin-Fang, Qian Jun, Lin Jiang
Department of Hematology, Affiliated People's Hospital of Jiangsu University, Zhenjiang, Jiangsu, People's Republic of China.
Department of Hematology, Affiliated People's Hospital of Jiangsu University, Zhenjiang, Jiangsu, People's Republic of China; The Key Lab of Precision Diagnosis and Treatment of Zhenjiang City, Zhenjiang, Jiangsu, People's Republic of China.
Pathol Res Pract. 2018 May;214(5):706-712. doi: 10.1016/j.prp.2018.03.010. Epub 2018 Mar 7.
Somatic 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).
In this study, we used high-resolution melting analysis (HRMA) to detect the SETBP1 mutations in a cohort of 363 patients with AML or MDS.
A 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.
We 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.
近期在血液系统恶性肿瘤中检测到SETBP1基因的体细胞突变。本研究旨在探讨急性髓系白血病（AML）和骨髓增生异常综合征（MDS）患者中SETBP1突变的频率及其临床相关性。
在本研究中，我们采用高分辨率熔解分析（HRMA）检测363例AML或MDS患者队列中的SETBP1突变。
共发现1.2%（3/249）的AML患者和1.8%（2/114）的MDS患者存在SETBP1杂合突变。在AML中，SETBP1突变患者的血红蛋白水平较高（P = 0.004），且在AML-M4亚型中复发频率更高（P = 0.034）。所有5例SETBP1突变患者的核型均正常。SETBP1突变患者并发SRSF2突变的发生率显著更高（P = 0.002）。HRMA检测SETBP1突变的灵敏度为5%，明显高于Sanger测序的25%。
我们建立了一种快速、廉价、高通量且灵敏的方法来筛查SETBP1突变。SETBP1突变在AML和MDS患者中是一种罕见的分子事件。
