Clinical Grade "SNaPshot" Genetic Mutation Profiling in Multiple Myeloma.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 26137536.
- Also identified by DOI 10.1016/j.ebiom.2014.11.008 and PMC identifier 4485483.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Whole genome sequencing studies have identified several oncogenic mutations in multiple myeloma (MM). As MM progresses, it evolves genetically underscoring the need to have tools for rapid detection of targetable mutations to optimize individualized treatment. Massachusetts General Hospital (MGH) has developed a Clinical Laboratory Improvement Amendments (CLIA)-approved, high-throughput, genotyping platform to determine the mutation status of a panel of known oncogenes. Sequence analysis using SNaPshot on DNA extracted from bone marrow and extramedullary plasmacytomas is feasible and leads to the detection of potentially druggable mutations. Screening MM patients for somatic mutations in oncogenes may provide novel targets leading to additional therapies for this patient population.
Medical subject headings
- Multiple Myeloma
- Mutation
- Polymorphism, Single Nucleotide