Background: Activating mutations in the K-ras oncogene mainly occurr 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 Methods: K-ras analysis was carried out on DNA extracted from paraffin-embedded tumor samples after microdissection. Exons I and 2 were amplified by PCR and then sequenced. Results: A never-reported K-ras mutation (CAG>TAG) determining a premature stop signal at codon 22 (Gln22Stop) was found in a patient with metastatic colorecta 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. Conclusion: This 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.

A Novel K-ras Mutation in Colorectal Cancer. A Case Report and Literature Review

Guadagni F
2009

Abstract

Background: Activating mutations in the K-ras oncogene mainly occurr 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 Methods: K-ras analysis was carried out on DNA extracted from paraffin-embedded tumor samples after microdissection. Exons I and 2 were amplified by PCR and then sequenced. Results: A never-reported K-ras mutation (CAG>TAG) determining a premature stop signal at codon 22 (Gln22Stop) was found in a patient with metastatic colorecta 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. Conclusion: This 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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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.12078/1767
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