The latter quenches the fluorescence of the fluorophore. The probe incorporates the fluorophore carboxyfluorescein (FAM™) and a quencher. Scorpions are bifunctional molecules containing a PCR primer covalently linked to a probe. ĭetection of amplification is performed using Scorpions. Identifying the molecular bases that characterize the tumor is important to define a personalized therapeutic plan: the presence of some genetic mutations, in fact, is predictive of a specific therapy efficacy and allows practitioners to choose the most appropriate drugs for the patient. Genetic tests in a population of mCRC patients have identified that the KRAS gene mutation is common to 40% of cases and it was associated with a failure to respond to standard treatment. More aggressive and rapidly progressive colorectal cancers are frequently associated with a mutation in the KRAS gene, which encodes an EGFR-activated protein. Some genetic variants of colorectal cancer are much rarer and require treatment paths that are different from the first-line chemotherapies generally used. There are many alterations that are being sought today and that would be targeted as therapy, such as the rearrangement of ROS1 and RET, the amplification of MET, and activating mutations in BRAF, HER2, and KRAS genes. Personalized medicine responded conspicuously in all those patients who had mutations of the EGFR or ALK gene. The search for tumor mutational burden (TMB) predictive to response to therapy contributed to an increased rate of disease-free survival in patients affected by NSCLC, with respect to those treated by standard chemotherapy. In recent years, the use of target therapy and immunotherapy have conducted a positive management of lung cancer patients. 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. In contrast, these samples were mutated for the evaluated genes using the therascreen test on Rotor-Gene Q. 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. Our study demonstrated that in about 2% of analyzed cases, the two techniques did not show the same or overlapping results. We focused our attention on EGFR, BRAF, KRAS, and BRAF genes for NSCLC, melanoma, and mCRC samples, respectively. 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. 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.
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