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Cancer Cell International
Published in: Cancer Cell International 1/2012

Open Access 01-12-2012 | Primary research

Mutations increased overexpression of Notch 1 in T-cell acute lymphoblastic leukemia

Authors: Chunlan Lin, Haitao Zheng, Chunyan Wang, Lijian Yang, Shaohua Chen, Bo Li, Yubing Zhou, Huo Tan, Yangqiu Li

Published in: Cancer Cell International | Issue 1/2012

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Abstract

Background

The Notch signaling pathway is crucial in T-cell development, Notch 1 mutations are frequently present in T-cell acute lymphoblastic leukemia (T-ALL). To investigate the feature of Notch 1 mutation and its corresponding expression level in Chinese patients with T-ALL, detection of mutation and the expression level of Notch 1 gene was preformed using RT-PCR, sequencing and real-time PCR respectively.

Results

Two Notch 1 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 Notch 1 was detected in all samples with T-ALL, moreover, significantly higher expression of Notch 1 was detected in the T-ALL with Notch 1 mutation group compared with T-ALL with WT Notch 1 group (p = 0.0192).

Conclusions

Higher expression of Notch 1 was associated with Notch 1 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.
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Metadata
Title
Mutations increased overexpression of Notch 1 in T-cell acute lymphoblastic leukemia
Authors
Chunlan Lin
Haitao Zheng
Chunyan Wang
Lijian Yang
Shaohua Chen
Bo Li
Yubing Zhou
Huo Tan
Yangqiu Li
Publication date
01-12-2012
Publisher
BioMed Central
Published in
Cancer Cell International / Issue 1/2012
Electronic ISSN: 1475-2867
DOI
https://doi.org/10.1186/1475-2867-12-13

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