title: Clinical Grade "SNaPshot" Genetic Mutation Profiling in Multiple Myeloma.
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.
authors.affiliation: Massachusetts General Hospital Cancer Center, Boston, MA, United States.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: O'Donnell
authors.affiliation: Massachusetts General Hospital Cancer Center, Boston, MA, United States.
authors.forename: Anuj
authors.initials: A
authors.lastname: Mahindra
authors.affiliation: Massachusetts General Hospital Cancer Center, Boston, MA, United States.
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Yee
authors.affiliation: Massachusetts General Hospital Cancer Center, Boston, MA, United States.
authors.forename: Valentina
authors.initials: V
authors.lastname: Nardi
authors.affiliation: Massachusetts General Hospital Cancer Center, Boston, MA, United States.
authors.forename: Nicole
authors.initials: N
authors.lastname: Birrer
authors.affiliation: Massachusetts General Hospital Cancer Center, Boston, MA, United States.
authors.forename: Nora
authors.initials: N
authors.lastname: Horick
authors.affiliation: Massachusetts General Hospital Cancer Center, Boston, MA, United States.
authors.forename: Darrell
authors.initials: D
authors.lastname: Borger
authors.affiliation: Massachusetts General Hospital Cancer Center, Boston, MA, United States.
authors.forename: Dianne
authors.initials: D
authors.lastname: Finkelstein
authors.affiliation: Massachusetts General Hospital Cancer Center, Boston, MA, United States.
authors.forename: John A
authors.initials: JA
authors.lastname: Iafrate
authors.affiliation: Massachusetts General Hospital Cancer Center, Boston, MA, United States.
authors.forename: Noopur
authors.initials: N
authors.lastname: Raje
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D045744:Cell Line, Tumor; D006801:Humans; D008875:Middle Aged; D009101:Multiple Myeloma / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
keywords: Clinical; Mutations; Myeloma; Sequencing; Therapy