title: Targeted sequencing using a 47 gene multiple myeloma mutation panel (M(3) P) in -17p high risk disease.
abstract: We constructed a multiple myeloma (MM)-specific gene panel for targeted sequencing and investigated 72 untreated high-risk (del17p) MM patients. Mutations were identified in 78% of the patients. While the majority of studied genes were mutated at similar frequency to published literature, the prevalence of TP53 mutation was increased (28%) and no mutations were found in FAM46C. This study provides a comprehensive insight into the mutational landscape of del17p high-risk MM. Additionally, our work demonstrates the practical use of a customized sequencing panel, as an easy, cheap and fast approach to characterize the mutational profile of MM.
authors.affiliation: Division of Hematology - Oncology, Mayo Clinic, Scottsdale, AZ, USA.
authors.forename: Klaus M
authors.initials: KM
authors.lastname: Kortüm
authors.forename: Christian
authors.initials: C
authors.lastname: Langer
authors.forename: Jorge
authors.initials: J
authors.lastname: Monge
authors.forename: Laura
authors.initials: L
authors.lastname: Bruins
authors.forename: Jan B
authors.initials: JB
authors.lastname: Egan
authors.forename: Yuan X
authors.initials: YX
authors.lastname: Zhu
authors.forename: Chang Xin
authors.initials: CX
authors.lastname: Shi
authors.forename: Patrick
authors.initials: P
authors.lastname: Jedlowski
authors.forename: Jessica
authors.initials: J
authors.lastname: Schmidt
authors.forename: Juhi
authors.initials: J
authors.lastname: Ojha
authors.forename: Lars
authors.initials: L
authors.lastname: Bullinger
authors.forename: Peter
authors.initials: P
authors.lastname: Liebisch
authors.forename: Miriam
authors.initials: M
authors.lastname: Kull
authors.forename: Mia D
authors.initials: MD
authors.lastname: Champion
authors.forename: Scott
authors.initials: S
authors.lastname: Van Wier
authors.forename: Gregory
authors.initials: G
authors.lastname: Ahmann
authors.forename: Leo
authors.initials: L
authors.lastname: Rasche
authors.forename: Stefan
authors.initials: S
authors.lastname: Knop
authors.forename: Rafael
authors.initials: R
authors.lastname: Fonseca
authors.forename: Hermann
authors.initials: H
authors.lastname: Einsele
authors.forename: A Keith
authors.initials: AK
authors.lastname: Stewart
authors.forename: Esteban
authors.initials: E
authors.lastname: Braggio
mesh_terms: D002869:Chromosome Aberrations; D002886:Chromosomes, Human, Pair 17 / Q000648:ultrastructure; D004252:DNA Mutational Analysis / Q000379:methods; D004273:DNA, Neoplasm / Q000235:genetics*; D052138:Genes, Neoplasm; D016158:Genes, p53; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009101:Multiple Myeloma / Q000235:genetics*; D009154:Mutation; D012306:Risk; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D004273:DNA, Neoplasm
keywords: DNA mutation; DRUG resistance; cancer genetics; genetic analysis; myeloma