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Anti-EGFR therapy appears to be a potential treatment option for squamous cell anal carcinoma (SCAC).  KRAS  mutation is a rare event in SCAC, indicating the absence of the principal mechanism of resistance to this type of therapy. However, no information is available from the literature regarding the status of  BRAF  or  PIK3CA  in this cancer type. We analysed  KRAS ,  BRAF  and  PIK3CA  status in SCAC patients in relation to the clinical-pathological characteristics of patients and to the presence of the human papilloma virus (HPV). One hundred and three patients were treated with the Nigro scheme for anal cancer from March 2001 to August 2012. Fifty patients were considered for the study as there was insufficient paraffin-embedded tumour tissue to perform molecular analysis the remaining 53. DNA was extracted from paraffin-embedded sections.  KRAS ,  BRAF  and  PIK3CA  gene status and HPV genotype were evaluated by pyrosequencing.  KRAS  and  BRAF  genes were wild-type in all cases. Conversely,  PIK3CA  gene was found to be mutated in 11 (22%) cases. In particular, 8 mutations occurred in exon 9 and 3 in exon 20 of the  PIK3CA  gene. These findings suggest that SCAC could potentially respond to an anti-EGFR drug.  PIK3CA  mutation may be involved in the process of carcinogenesis in some cases of SCAC.

KRAS, BRAF and PIK3CA Status in Squamous Cell Anal Carcinoma (SCAC)