title: Spectrum of somatic mutations detected by targeted next-generation sequencing and their prognostic significance in adult patients with acute lymphoblastic leukemia.
abstract: Target-specific next-generation sequencing technology was used to analyze 112 genes in adult patients with acute lymphoblastic leukemia (ALL). This sequencing mainly focused on the specific mutational hotspots. Among the 121 patients, 93 patients were B-ALL (76.9%), and 28 patients (23.1%) were T-ALL. Of the 121 patients, 110 (90.9%) harbored at least one mutation. The five most frequently mutated genes in T-ALL are NOTCH1, JAK3, FBXW7, FAT1, and NRAS. In B-ALL, FAT1, SF1, CRLF2, TET2, and PTPN1 have higher incidence of mutations. Gene mutations are different between Ph+ALL and Ph-ALL patients. B-ALL patients with PTPN11 mutation and T-ALL patients with NOTCH1 and/or FBXW7 mutations showed better survival. But B-ALL with JAK1/JAK2 mutations showed worse survival. The results suggest that gene mutations exist in adult ALL patients universally, they are related with prognosis.
authors.affiliation: Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, 300020, People's Republic of China.|State Key Laboratory of Experimental Hematology, Tianjin, 300020, People's Republic of China.
authors.forename: Juan
authors.initials: J
authors.lastname: Feng
authors.affiliation: Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, 300020, People's Republic of China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Li
authors.affiliation: Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, 300020, People's Republic of China.
authors.forename: Yujiao
authors.initials: Y
authors.lastname: Jia
authors.affiliation: Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, 300020, People's Republic of China.
authors.forename: Qiuyun
authors.initials: Q
authors.lastname: Fang
authors.affiliation: Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, 300020, People's Republic of China.
authors.forename: Xiaoyuan
authors.initials: X
authors.lastname: Gong
authors.affiliation: Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, 300020, People's Republic of China.
authors.forename: Xiaobao
authors.initials: X
authors.lastname: Dong
authors.affiliation: Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, 300020, People's Republic of China.
authors.forename: Kun
authors.initials: K
authors.lastname: Ru
authors.affiliation: Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, 300020, People's Republic of China.
authors.forename: Qinghua
authors.initials: Q
authors.lastname: Li
authors.affiliation: Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, 300020, People's Republic of China.
authors.forename: Xingli
authors.initials: X
authors.lastname: Zhao
authors.affiliation: Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, 300020, People's Republic of China.
authors.forename: Kaiqi
authors.initials: K
authors.lastname: Liu
authors.affiliation: State Key Laboratory of Experimental Hematology, Tianjin, 300020, People's Republic of China.
authors.forename: Min
authors.initials: M
authors.lastname: Wang
authors.affiliation: State Key Laboratory of Experimental Hematology, Tianjin, 300020, People's Republic of China.
authors.forename: Zheng
authors.initials: Z
authors.lastname: Tian
authors.affiliation: Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, 300020, People's Republic of China.|State Key Laboratory of Experimental Hematology, Tianjin, 300020, People's Republic of China.
authors.forename: Yannan
authors.initials: Y
authors.lastname: Jia
authors.affiliation: Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, 300020, People's Republic of China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, 300020, People's Republic of China.
authors.forename: Dong
authors.initials: D
authors.lastname: Lin
authors.affiliation: Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, 300020, People's Republic of China.|State Key Laboratory of Experimental Hematology, Tianjin, 300020, People's Republic of China.
authors.forename: Hui
authors.initials: H
authors.lastname: Wei
authors.affiliation: State Key Laboratory of Experimental Hematology, Tianjin, 300020, People's Republic of China.
authors.forename: Kejing
authors.initials: K
authors.lastname: Tang
authors.affiliation: Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, 300020, People's Republic of China. miyingch@medmail.com.cn.|State Key Laboratory of Experimental Hematology, Tianjin, 300020, People's Republic of China. miyingch@medmail.com.cn.
authors.forename: Yingchang
authors.initials: Y
authors.lastname: Mi
authors.affiliation: Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, 300020, People's Republic of China. wangjx@ihcams.ac.cn.|State Key Laboratory of Experimental Hematology, Tianjin, 300020, People's Republic of China. wangjx@ihcams.ac.cn.
authors.forename: Jianxiang
authors.initials: J
authors.lastname: Wang
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009154:Mutation; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis / Q000235:genetics*; D054218:Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics; D011379:Prognosis; D055815:Young Adult
keywords: Acute lymphoblastic leukemia; Next-generation sequencing; Prognostic significance; Somatic mutations