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The online version of this article (doi:10.1186/1475-2867-12-13) contains supplementary material, which is available to authorized users.
The authors declare that they have no competing interests.
YQL contributed to concept development and study design. CLL and SHC performed PCR and sequencing, HTZ, LJY and YBZ performed the real-time PCR. CYW, LJY, BL and HT were responsible for collection of clinical data. YQL and CLL and HTZ coordinated the study and helped drafting the manuscript. All authors read and approved the final manuscript.
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.
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).
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.