Li-Chan Xiao1, Min Li1, Zheng Ge2, Yan Gu1, Xi-Lian Zhou1, Xing Guo1, Jian-Yong Li1. 1. Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Provincial People Hospital, Nanjing 210029, China. 2. 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.
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. CONCLUSION: IL-7R mulation and its associated signaling pathways may play an important role in the pathogenesis of T-ALL.
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. CONCLUSION:IL-7R mulation and its associated signaling pathways may play an important role in the pathogenesis of T-ALL.
Authors: H Chen; X J Wang; S Liu; F F Yuan; H Ai; L Chen; R H Mi; Y Y Xiong; M J Li; R H Fan; Q S Yin; X D Wei Journal: Zhonghua Xue Ye Xue Za Zhi Date: 2018-10-14