Paired matched normal sequencing to accurately identify somatic clonal hematopoiesis mutations in solid tumor tissue and plasma specimens
31 May 2024Clonal hematopoiesis (CH), characterized by the presence of somatic mutations in blood cells, can be found in cancer-related genes when sequencing tumor tissue or plasma samples. Inability to distinguish somatic, tumor-derived mutations from CHm can lead to inaccurate treatment decisions. The most accurate way to discriminate clonal hematopoiesis mutations from cancer-associated mutations is to perform sequencing on matched normal samples along with tumor tissue or ctDNA, which is not routine in clinical settings.
This prospective study confirmed CHm that could have been misidentified as tumor-derived mutations in solid tumors by sequencing and analysis of paired matched normal (PMN) specimens.
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Clinical GeneticsMolecular Genetics covers the analysis of hereditary genetic disease and chromosomal abnormalities. Genetics can be analysed using DNA, RNA, and protein microarrays, PCR, RT PCR and DNA sequencing. Genetic equipment includes genetic workstations, thermal cyclers, cooling blocks and electrophoresis products. Diagnostic kits are used for DNA / RNA extraction and purification.Molecular DiagnosticsMolecular diagnostics use an individual’s genetic code and gene expression to diagnose and monitor diseases. The technique is used increasingly in the field of infectious diseases and oncology, as well as areas such as coagulation, HLA typing and pharmacogenomics. Molecular diagnostics plays a pivotal role in personalized medicine.OncologyThe branch of medical science that deals with the diagnosis and treatment of cancer is known as oncology.