title: Mutations increased overexpression of Notch1 in T-cell acute lymphoblastic leukemia.
abstract: BACKGROUND
  The Notch signaling pathway is crucial in T-cell development, Notch1 mutations are frequently present in T-cell acute lymphoblastic leukemia (T-ALL). To investigate the feature of Notch1 mutation and its corresponding expression level in Chinese patients with T-ALL, detection of mutation and the expression level of Notch1 gene was preformed using RT-PCR, sequencing and real-time PCR respectively.
  
  
  RESULTS
  Two Notch1 point mutations (V1578E and L1593P) located on HD-N domain were identified in three cases out of 13 T-ALL patients. The mutation on 4733 position (V1578E) found in two cases was a novel mutation. The overexpression of Notch1 was detected in all samples with T-ALL, moreover, significantly higher expression of Notch1 was detected in the T-ALL with Notch1 mutation group compared with T-ALL with WT Notch1 group (p = 0.0192).
  
  
  CONCLUSIONS
  Higher expression of Notch1 was associated with Notch1 mutation, more novel mutation of this gene might be identified in different populations and its contribution to the molecular pathogenesis of T-ALL is needed further research.
authors.affiliation: Institute of Hematology, Medical College, Jinan University, Guangzhou 510632, People's Republic of China. yangqiuli@hotmail.com.
authors.forename: Chunlan
authors.initials: C
authors.lastname: Lin
authors.forename: Haitao
authors.initials: H
authors.lastname: Zheng
authors.forename: Chunyan
authors.initials: C
authors.lastname: Wang
authors.forename: Lijian
authors.initials: L
authors.lastname: Yang
authors.forename: Shaohua
authors.initials: S
authors.lastname: Chen
authors.forename: Bo
authors.initials: B
authors.lastname: Li
authors.forename: Yubing
authors.initials: Y
authors.lastname: Zhou
authors.forename: Huo
authors.initials: H
authors.lastname: Tan
authors.forename: Yangqiu
authors.initials: Y
authors.lastname: Li