Cancers is a disease with the complex genetic alterations; personalize cancer treatment with comprehensive and precise genetic profiling of the patient’s tumor is beneficial to match each patient to appropriate therapy.
the development of next generation sequencing (ngs) has offered unprecedented progress in uncovering cancer genome characteristics and facilitating personalized cancer therapy due to its outstanding accuracy and sensitivity. high throughput targeted next generation sequencing (ngs) is a promising tool to use as a non-invasive biomarker for cancer mutation profiling.
Cancer genome sequencing based on ngs method used to provide clinically relevant data in patients with rare or novel tumor types. in our study, we implemented targeted next generation sequencing (ngs) with a personalized gene panel of 500 cancer-relevant genes in stage iv metastatic colorectal cancer patient. patient with tumor-specific pms2 and mutyh, muc-6, muc-3a, fbrsl-1, nrbp-2 genes mutation identified with this method. according to amsterdam criteria, revised bethesda guidelines, and family history of patient we used ihc method and germ line mutation analysis to accurate our data.
This study reveals a unique mutation spectrum in stage iv metastatic colorectal cancer patients, which used to guide most promising combination of immune-oncology therapy decisions and monitor drug-resistant mutations that may potentially prolonged survival in our patient. taken together, our study demonstrated the feasibility of clinically useful targeted ngs-based mutation profiling to guide treatment decisions in cancer.
Personalized cancer treatment optimizes the clinical benefits for each patient by choosing targeted interventions. based on that patient’s unique genetic profile translating this sequence information into a clinical treatment plan is highly complicated and requires experts of oncology, tumor molecular biology, genetic engineering and cancer immunology field.
Personalize cancer therapy, tumor molecular biology, genetic engineering.