Nov 28, 2013

Common and complex Notch1 mutations in Chinese oral squamous cell carcinoma

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
Xiaomeng SongLi Mao

Abstract

To determine Notch1 mutation status in oral squamous cell carcinoma (OSCC) from Chinese population and its potential clinical implications. Surgically resected OSCC tissues from 51 Chinese patients and 13 head and neck squamous cell carcinoma (HNSCC) cell lines were sequenced for mutations in the entire coding regions of Notch1 and TP53 using a next-generation sequencing platform. Sequences of the genes were also determined in corresponding normal tissues from 46 of the 51 patients. Mutations and their association with clinical parameters were analyzed. Six mutations in Notch1 and 11 mutations in TP53 coding regions were detected in 4 (31%) and 10 (77%) of the 13 HNSCC cell lines, respectively. Forty-two somatic Notch1 mutations, including 7 nonsense mutations and 11 mutations within the domain commonly harboring potential activating mutations in acute lymphoblastic leukemia, were detected in 22 (43%) of the 51 Chinese OSCC tumors. In comparison, 25 somatic TP53 mutations were observed in 21 (41%) of the 51 tumors. Patients whose tumors carried Notch1 mutation had significantly shorter overall and disease-free survivals (P = 0.004 and P = 0.001, respectively, by log-rank test) compared with those whose tumors carried no Notch1 ...Continue Reading

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Mentioned in this Paper

TP53 gene
Mutation, Nonsense
Kaplan-Meier Estimate
Neoplasms
Secondary Malignant Neoplasm of Lymph Node
Reverse Transcriptase Polymerase Chain Reaction
Squamous Cell Carcinoma of the Head and Neck
TP53
TP53 protein, human
Massively-Parallel Sequencing

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