Abstract
Molecular profiling of a tumor allows the opportunity to design specific therapies which are able to interact only with cancer cells characterized by the accumulation of several genomic aberrations. This study investigates the usefulness of next-generation sequencing (NGS) and mutation-specific analysis methods for the detection of target genes for current therapies in non-small-cell lung cancer (NSCLC), metastatic colorectal cancer (mCRC), and melanoma patients. We focused our attention on EGFR, BRAF, KRAS, and BRAF genes for NSCLC, melanoma, and mCRC samples, respectively. Our study demonstrated that in about 2% of analyzed cases, the two techniques did not show the same or overlapping results. Two patients affected by mCRC resulted in wild-type (WT) for BRAF and two cases with NSCLC were WT for EGFR according to PGM analysis. In contrast, these samples were mutated for the evaluated genes using the therascreen test on Rotor-Gene Q. In conclusion, our experience suggests that it would be appropriate to confirm the WT status of the genes of interest with a more sensitive analysis method to avoid the presence of a small neoplastic clone and drive the clinician to correct patient monitoring.
Highlights
Carcinogenesis is a multiphase process that drives the progressive transformation of a normal cell into a tumor cell
After DNA extraction, samples were analyzed with Ion Torrent Personal Genome machine, and coding and amino acid change data of mutated genes available in the panel have been exported in a database
We focused our attention on the EGFR gene for non-small-cell lung cancer (NSCLC) samples, KRAS, and BRAF genes for metastatic colorectal cancer (mCRC) samples, and the BRAF gene for melanoma samples, because target therapy for the mutation of these genes can be prescribed by clinicians
Summary
Carcinogenesis is a multiphase process that drives the progressive transformation of a normal cell into a tumor cell. The detection of somatic mutations in primary tumors represents a critical point in understanding cancer evolution and target therapy. Molecular photography of a tumor allows us to establish which cellular mechanisms are altered and draw specific therapies directly to these molecular targets, decreasing the side effects on healthy cells. From a “one size fits all medicine” to a personalized and specific point of view where therapy is established on the molecular profile of the single tumor in an individual patient, the main objectives in cancer medicine are to maximize the care potential, minimize the toxicity, and identify the patients who will be able to benefit from the therapy [3,4,5,6]. The molecular analysis requires a sensitive and accurate estimate of cancer risk conferred by genetic alterations [7]
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