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

B Shalmon1, M Drendel2, M Wolf2

  • 1Institute of Pathology, The Chaim Sheba Medical Center, Tel Hashomer, Israel.

International Journal of Oral and Maxillofacial Surgery
|January 27, 2016
PubMed

Insights

This study investigated mutations in PIK3CA, BRAF, and KRAS genes in malignant salivary gland tumors. A novel PIK3CA mutation was found in one case, with the patient showing long-term survival.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • The phosphoinositide 3-kinase (PIK3)/v-akt murine thymoma (AKT) and RAS/RAF pathways are crucial in cell signaling, with mutations linked to various cancers.
  • Understanding these mutations in salivary gland tumors is vital for targeted therapies.

Purpose of the Study:

  • To determine the frequency of mutations in PIK3CA, BRAF, and KRAS genes in malignant salivary gland tumors.
  • To identify potential genetic markers for tumor behavior and treatment strategies.

Main Methods:

  • Direct sequencing was used to analyze PIK3CA, KRAS, and BRAF genes in tumor samples from 21 patients.
  • Surgical specimens from patients treated between 1992 and 2001 were utilized.

Main Results:

  • No mutations were detected in KRAS exon 2, BRAF exon 15, or PIK3CA exon 9.
  • A novel PIK3CA exon 20 mutation (W1051 stop) was identified in one case of adenocarcinoma NOS.
  • The patient with the PIK3CA mutation survived over 20 years despite advanced disease at presentation.

Conclusions:

  • The study identified a novel PIK3CA mutation in malignant salivary gland tumors.
  • Further research is needed to explore the clinical significance and therapeutic implications of this mutation.
  • Long-term survival in the patient with the novel mutation suggests potential for different clinical behavior or response to treatment.
Keywords:
AKTPI3KRAShead and neck cancersalivary gland cancer

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