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KRAS, BRAF and PIK3CA status in squamous cell anal carcinoma (SCAC)

Andrea Casadei Gardini1, Laura Capelli1, Paola Ulivi1

  • 1Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola, Italy.

Plos One
|March 20, 2014
PubMed

Insights

Squamous cell anal carcinoma (SCAC) shows no KRAS or BRAF mutations, suggesting potential response to anti-EGFR therapy. PIK3CA mutations were found in 22% of SCAC patients, potentially influencing carcinogenesis.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Squamous cell anal carcinoma (SCAC) is a rare malignancy.
  • Anti-epidermal growth factor receptor (EGFR) therapy is a potential treatment for SCAC.
  • KRAS mutations, a common resistance mechanism to anti-EGFR therapy, are rare in SCAC.

Purpose of the Study:

  • To investigate the status of KRAS, BRAF, and PIK3CA genes in SCAC.
  • To correlate these genetic alterations with clinical-pathological characteristics and human papilloma virus (HPV) presence.
  • To assess the potential for anti-EGFR therapy in SCAC based on these genetic profiles.

Main Methods:

  • Analysis of DNA from 50 SCAC tumor samples.
  • Pyrosequencing was used to evaluate KRAS, BRAF, and PIK3CA gene status.
  • HPV genotyping was performed.

Main Results:

  • KRAS and BRAF genes were wild-type in all analyzed SCAC samples.
  • PIK3CA gene mutations were identified in 11 (22%) of the cases.
  • Mutations in PIK3CA were located in exon 9 (8 cases) and exon 20 (3 cases).

Conclusions:

  • The absence of KRAS and BRAF mutations suggests SCAC may be sensitive to anti-EGFR therapy.
  • PIK3CA mutations are present in a subset of SCAC patients and may play a role in tumorigenesis.
  • Further research is warranted to explore the therapeutic implications of PIK3CA mutations in SCAC.

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