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The determinants of head and neck cancer: Unmasking the PI3K pathway mutations

Fernanda S Giudice1, Cristiane H Squarize2

  • 1Laboratory of Epithelial Biology, Department of Periodontics and Oral Medicine, School of Dentistry, University of Michigan, Ann Arbor, Michigan, 48109-1078, USA ; International Research Center, A. C. Camargo Cancer Center, São Paulo, SP, Brazil.

Journal of Carcinogenesis & Mutagenesis
|August 16, 2014
PubMed

Insights

Mutations in the PI3K-PTEN-mTOR pathway are common in head and neck cancer (HNC). Understanding these genetic alterations is key to developing new, personalized therapies for HNC patients.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • The PI3K-PTEN-mTOR signaling pathway is frequently dysregulated in various cancers, including head and neck cancer (HNC).
  • Specific genetic alterations in PIK3CA and PTEN are prevalent in HNC, impacting key molecular functions.
  • Understanding these mutations is crucial for advancing cancer research and treatment strategies.

Purpose of the Study:

  • To provide a comprehensive review of mutations within the PI3K-PTEN-mTOR pathway in HNC.
  • To elucidate the functional consequences of these genetic alterations on protein structure and signaling.
  • To highlight recent advancements in understanding kinase and tumor suppressor mutations in HNC.

Main Methods:

  • Literature review of studies on PI3K-PTEN-mTOR pathway mutations in HNC.
  • Analysis of mutation data for PIK3CA, PTEN, and associated pathway components.
  • Discussion of the impact of genetic alterations on protein function and cancer progression.

Main Results:

  • PIK3CA mutations (E542K, E545K, H1047R/L) occur in 11%-33% of HNC.
  • PTEN somatic mutations are found in 9-23% of HNC, often in the phosphatase domain.
  • PTEN loss of heterozygosity (41%-71%) and protein expression loss (31.2%) are significant in HNC.

Conclusions:

  • Genetic alterations in the PI3K-PTEN-mTOR pathway are common drivers in HNC.
  • These mutations affect protein function and contribute to cancer development and progression.
  • Further understanding will guide the development of targeted, genomic-based therapies for HNC.
Keywords:
HNSCCmutationsoncogenomicsreviewtumor sequencing

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