Diagnostic value of next-generation sequencing for patients with unexplained pancytopenia

VernacularTitle:二代测序对不明原因全血细胞减少患者的诊断价值
Author: Mengdi JIN ; Danyu WANG ; Haiyan CUI ; Zhaogui ZHOU ; Wei DAI ; Liqiong LIU ; Zelin LIU
From: Journal of Leukemia & Lymphoma 2021;30(5):282-285
CountryChina
Language:Chinese
Abstract: Objective:To explore the significance of next-generation sequencing to detect gene mutations for diagnosis of patients with unexplained pancytopenia.Methods:The next-generation sequencing was used to detect 32 common hematological tumor gene mutations in 113 patients with unexplained pancytopenia in Huazhong University of Science and Technology Union Shenzhen Hospital from February 2016 to February 2019.Results:The next-generation sequencing results showed that of the 32 genes tested in 113 patients, 69 mutations occurred in 25 genes. Among them, 105 patients (92.9%) carried at least 1 gene mutation, and the median number of mutations was 2 (1-5). Fifty-one patients were diagnosed with myelodysplastic syndrome (MDS), and the related mutant genes were detected; 62 patients were diagnosed with atypical aplastic anemia or cytopenia of unknown significance. The total effective rate of treatment for 113 patients was 65.5% (74/113).Conclusion:The next-generation sequencing helps to diagnose patients with unexplained pancytopenia, and provides targeted strategies for finding new treatments and prolonging the overall survival of patients.