Mutational analysis of PI3K/AKT and RAS/RAF pathway activation in malignant salivary gland tumours with a new mutation of PIK3CA

Abstract The phosphoinositide 3-kinase (PIK3)/v-akt murine thymoma (AKT) oncogene pathway and the RAS/RAF pathway are involved in regulating the signalling of multiple biological processes, including apoptosis, metabolism, cell proliferation, and cell growth. Mutations in the genes within these path...

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Bibliographic Details
Published in:International journal of oral and maxillofacial surgery 2016-06, Vol.45 (6), p.721-725
Main Authors: Shalmon, B, Drendel, M, Wolf, M, Hirshberg, A, Cohen, Y
Format: Article
Language:English
Subjects:
Adult
Aged
AKT
Animals
Class I Phosphatidylinositol 3-Kinases - genetics
Dentistry
DNA Mutational Analysis
Female
head and neck cancer
Humans
Male
Middle Aged
Mutation
Phosphatidylinositol 3-Kinases - genetics
PI3K
Proto-Oncogene Proteins c-akt - genetics
Proto-Oncogene Proteins c-raf - metabolism
Proto-Oncogene Proteins p21(ras) - metabolism
RAS
salivary gland cancer
Salivary Gland Neoplasms - genetics
Salivary Gland Neoplasms - metabolism
Surgery
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Summary:Abstract The phosphoinositide 3-kinase (PIK3)/v-akt murine thymoma (AKT) oncogene pathway and the RAS/RAF pathway are involved in regulating the signalling of multiple biological processes, including apoptosis, metabolism, cell proliferation, and cell growth. Mutations in the genes within these pathways are frequently found in several tumours. The aim of this study was to investigate the frequency of mutations in the PIK3CA , BRAF , and KRAS genes in cases of malignant salivary gland tumours. Mutational analysis of the PIK3CA , KRAS , and BRAF genes was performed by direct sequencing of material from 21 patients with malignant salivary gland tumours who underwent surgery between 1992 and 2001. No mutations were found in the KRAS exon 2, BRAF exon 15, or PIK3CA exon 9 genes. However, an unpublished mutation of the PIK3CA gene in exon 20 (W1051 stop mutation) was found in one case of adenocarcinoma NOS. The impact of this mutation on the biological behaviour of the tumour has yet to be explored, however the patient with adenocarcinoma NOS harbouring this mutation has survived for over 20 years following surgery despite a high stage at presentation. Further studies with more homogeneous patient cohorts are needed to address whether this mutation reflects a different clinical presentation and may benefit from targeted treatment strategies.
ISSN:0901-5027
1399-0020
DOI:10.1016/j.ijom.2015.12.015