Zhongguo shi yan xue ye xue za zhi · 2016
[Mutation of IL-7R in Adult Patients with T-cell Acute Lymphoblastic Leukemia and Its Clinical Significance].
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Xiao Li-Chan, Li Min, Ge Zheng, Gu Yan, Zhou Xi-Lian, Guo Xing, Li Jian-Yong
Аннотация
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.
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.