title: [Mutation of IL-7R in Adult Patients with T-cell Acute Lymphoblastic Leukemia and Its Clinical Significance].
abstract: OBJECTIVE
  Interleukin 7 (IL-7) and its receptor（IL-7R）are essential for normal T-cell development and homeostasis. This study was aimed to investigate the IL-7R mutation and its clinical significance in adult patients with adult acute lymphoblastic leukemia (ALL), particularly in T-ALL.
  
  
  METHODS
  The exons of IL-7R were amplified, cloned and sequenced in 144 adult patients with ALL; the frequency, position and lypes of IL-7R mutation were detected and their correlation with clinical features was analyzed.
  
  
  RESULTS
  7.3% of T-ALL and 1.1% of B-ALL showed somatic IL-7R mutations which located at exon 6 and exon 5, respectively. Moreover, the IL-7R mutation was associated with poor clinical outcome in adult ALL patients. Furthermore, the co-existence of IL-7R mutation with NOTCH1 mutations and/or PHF6 mutation in T-ALL was observed.
  
  
  CONCLUSIONS
  IL-7R mulation and its associated signaling pathways may play an important role in the pathogenesis of T-ALL.
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Provincial People Hospital, Nanjing 210029, China.
authors.forename: Li-Chan
authors.initials: LC
authors.lastname: Xiao
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Provincial People Hospital, Nanjing 210029, China.
authors.forename: Min
authors.initials: M
authors.lastname: Li
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Provincial People Hospital, Nanjing 210029, China;Department of Hematology, Zhongda Hospital, Southeast University Medical School, Nanjing, 210009, China. E-mail: Gezheng2008@163.com.
authors.forename: Zheng
authors.initials: Z
authors.lastname: Ge
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Provincial People Hospital, Nanjing 210029, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Gu
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Provincial People Hospital, Nanjing 210029, China.
authors.forename: Xi-Lian
authors.initials: XL
authors.lastname: Zhou
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Provincial People Hospital, Nanjing 210029, China.
authors.forename: Xing
authors.initials: X
authors.lastname: Guo
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Provincial People Hospital, Nanjing 210029, China.
authors.forename: Jian-Yong
authors.initials: JY
authors.lastname: Li
mesh_terms: D000328:Adult; D005091:Exons; D006801:Humans; D009154:Mutation; D054218:Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; D020395:Receptors, Interleukin-7
chemical_list: D020395:Receptors, Interleukin-7