• Raffaele Palmirotta, Annalisa Savonarola, Vincenzo Formica, Giorgia Ludovici, Girolamo Del Monte, Mario Roselli, and Fiorella Guadagni.
• Department of Laboratory Medicine and Advanced Biotechnologies, IRCCS San Raffaele, Via della Pisana 235, 00163 Rome, Italy. raffaele.palmirotta@sanraffaele.it
• Anticancer Res. 2009 Aug 1; 29 (8): 3369-74.

BackgroundActivating mutations in the K-ras oncogene mainly occur in codons 12 and 13 and may be predictive of response to drugs directly linked to the K-ras signaling pathway, such as panitumumab and cetuximab.Materials And MethodsK-ras analysis was carried out on DNA extracted from paraffin-embedded tumor samples after microdissection. Exons 1 and 2 were amplified by PCR and then sequenced.ResultsA never-reported K-ras mutation (CAG>TAG) determining a premature stop signal at codon 22 (Gln22Stop) was found in a patient with metastatic colorectal cancer. BRAF and p53 were not found to be modified and microsatellite instability was not present. The patient, however, was found to be unresponsive to an anti-EGFR MAb treatment.ConclusionThis study is the first report of a novel K-ras truncating mutation in a patient with metastatic colorectal cancer and is also suggestive for the evaluation of alternative pathways to better identify individuals who are likely to benefit from targeted therapies.

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