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Development of Compendium for Esophageal Squamous Cell Carcinoma
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Development of Compendium for Esophageal Squamous Cell Carcinoma

Published on: April 12, 2024

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Identification of somatic gene mutations in penile squamous cell carcinoma

Carla Ferrándiz-Pulido1,2, Javier Hernández-Losa2,3, Emili Masferrer4,5

  • 1Dermatology Department, Hospital Universitari Vall D'hebron, Barcelona, Spain.

Genes, Chromosomes & Cancer
|July 29, 2015
PubMed

Insights

Somatic mutations in PIK3CA, KRAS, and HRAS genes are common in penile squamous cell carcinoma, particularly in p53-negative tumors. These mutations may indicate potential treatment failure with anti-EGFR monoclonal antibody therapies.

Area of Science:

  • Oncology
  • Molecular Biology
  • Cancer Genetics

Background:

  • Penile squamous cell carcinoma (PSCC) pathogenesis is poorly understood, with limited research on driving somatic gene mutations and cell signaling pathways.
  • The epidermal growth factor receptor (EGFR) pathway and downstream signaling, including mTOR and RAS/MAPK, are critical in various cancers but understudied in PSCC.

Purpose of the Study:

  • To investigate somatic mutations in genes downstream of EGFR in PSCC.
  • To specifically analyze mutations within the mTOR and RAS/MAPK pathways in penile tumors.
  • To correlate mutation status with clinicopathological features and human papillomavirus (hrHPV) status.

Main Methods:

  • Retrospective analysis of 10 in situ and 65 invasive PSCC samples.
  • DNA extraction from formalin-fixed paraffin-embedded (FFPE) blocks.
  • Somatic mutation profiling using Sequenom's Mass Spectrometry iPlex Technology and Oncocarta v1.0 Panel.

Main Results:

  • Somatic missense mutations were identified in 3/10 in situ and 19/65 invasive PSCCs.
  • Frequent mutations occurred in PIK3CA, KRAS, HRAS, NRAS, and PDGFA genes.
  • Mutations in PIK3CA or RAS family genes were not associated with tumor grade, stage, outcome, or hrHPV status in p53-negative tumors.

Conclusions:

  • Mutations in PIK3CA, KRAS, and HRAS are prevalent in PSCC and may contribute to the development of p53-negative tumors.
  • While these mutations do not correlate with tumor behavior or prognosis, they could serve as biomarkers for predicting treatment response to anti-EGFR monoclonal antibodies (mAbs).

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