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Therapy Testing in a Spheroid-based 3D Cell Culture Model for Head and Neck Squamous Cell Carcinoma
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Search for mutations in signaling pathways in head and neck squamous cell carcinoma

Thais Gulim De Carvalho1, Ana Carolina De Carvalho, Danielle Calheiros Campelo Maia

  • 1Cancer Molecular Biology Laboratory, Department of Science Biology, Federal University of São Paulo (UNIFESP), 04039-032, São Paulo, SP, Brazil.

Oncology Reports
|May 15, 2013
PubMed

Insights

Mutations in key cancer-related genes like KRAS, BRAF, PIK3CA, JAK1, and JAK2 are rare in head and neck squamous cell carcinoma (HNSCC). This study found no mutations in these genes in 94 HNSCC patients.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Mutations in Janus kinase-STAT (JAK-STAT) signaling pathway genes are linked to hematological tumors.
  • The PIK3CA, BRAF, and KRAS genes have been identified in a subset of head and neck squamous cell carcinoma (HNSCC) cases.
  • The mutation status of MAPK, PI3K-AKT, and JAK-STAT pathways in HNSCC remains largely uninvestigated.

Purpose of the Study:

  • To determine the mutation status of genes within the MAPK, PI3K-AKT, and JAK-STAT signaling pathways in HNSCC.
  • To investigate the prevalence of mutations in KRAS, BRAF, PIK3CA, JAK1, and JAK2 in HNSCC.
  • To assess the potential role of these kinase gene mutations in HNSCC development.

Main Methods:

  • Direct DNA sequencing analysis was performed on cDNA synthesized from RNA extracted from 94 HNSCC patient tumor cells.
  • Evaluated mutations in KRAS, BRAF, PIK3CA, JAK1, and JAK2 genes.
  • Identified known polymorphisms in JAK1 and JAK2 genes.

Main Results:

  • All 94 HNSCC patients analyzed presented with wild-type KRAS, BRAF, and PIK3CA genes.
  • No mutations were detected in JAK1 or JAK2 genes, although several known polymorphisms were identified.
  • The study found no evidence of mutations in the investigated kinase genes within the HNSCC cohort.

Conclusions:

  • Mutations in KRAS, BRAF, PIK3CA, JAK1, and JAK2 appear to be infrequent in head and neck squamous cell carcinoma.
  • The investigated kinase signaling pathways may not be major drivers of tumorigenesis in the majority of HNSCC cases.
  • Further research may be warranted to explore other genetic alterations in HNSCC.

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