title: Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients.
abstract: We employed a customized Multiple Myeloma (MM)-specific Mutation Panel (M(3)P) to screen a homogenous cohort of 142 untreated MM patients for relevant mutations in a selection of disease-specific genes. M(3)Pv2.0 includes 77 genes selected for being either actionable targets, potentially related to drug-response or part of known key pathways in MM biology. We identified mutations in potentially actionable genes in 49% of patients and provided prognostic evidence of STAT3 mutations. This panel may serve as a practical alternative to more comprehensive sequencing approaches, providing genomic information in a timely and cost-effective manner, thus allowing clinically oriented variant screening in MM.
authors.affiliation: Division of Hematology Oncology, Mayo Clinic, Scottsdale, AZ, USA.
authors.forename: K M
authors.initials: KM
authors.lastname: Kortuem
authors.affiliation: Division of Hematology Oncology, Mayo Clinic, Scottsdale, AZ, USA.
authors.forename: E
authors.initials: E
authors.lastname: Braggio
authors.affiliation: Division of Hematology Oncology, Mayo Clinic, Scottsdale, AZ, USA.
authors.forename: L
authors.initials: L
authors.lastname: Bruins
authors.affiliation: Division of Hematology Oncology, Mayo Clinic, Scottsdale, AZ, USA.
authors.forename: S
authors.initials: S
authors.lastname: Barrio
authors.affiliation: Division of Hematology Oncology, Mayo Clinic, Scottsdale, AZ, USA.
authors.forename: C S
authors.initials: CS
authors.lastname: Shi
authors.affiliation: Division of Hematology Oncology, Mayo Clinic, Scottsdale, AZ, USA.
authors.forename: Y X
authors.initials: YX
authors.lastname: Zhu
authors.affiliation: Division of Hematology Oncology, Mayo Clinic, Scottsdale, AZ, USA.
authors.forename: R
authors.initials: R
authors.lastname: Tibes
authors.affiliation: Division of Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
authors.forename: D
authors.initials: D
authors.lastname: Viswanatha
authors.affiliation: Department of Research, Mayo Clinic, Scottsdale, AZ, USA.
authors.forename: P
authors.initials: P
authors.lastname: Votruba
authors.affiliation: Division of Hematology Oncology, Mayo Clinic, Scottsdale, AZ, USA.
authors.forename: G
authors.initials: G
authors.lastname: Ahmann
authors.affiliation: Division of Hematology Oncology, Mayo Clinic, Scottsdale, AZ, USA.
authors.forename: R
authors.initials: R
authors.lastname: Fonseca
authors.affiliation: Division of Hematology Oncology, Mayo Clinic, Scottsdale, AZ, USA.
authors.forename: P
authors.initials: P
authors.lastname: Jedlowski
authors.affiliation: Division of Hematology Oncology, Mayo Clinic, Scottsdale, AZ, USA.
authors.forename: I
authors.initials: I
authors.lastname: Schlam
authors.affiliation: Division of Hematology Oncology, Mayo Clinic, Rochester, MN, USA.
authors.forename: S
authors.initials: S
authors.lastname: Kumar
authors.affiliation: Division of Hematology Oncology, Mayo Clinic, Scottsdale, AZ, USA.
authors.forename: P L
authors.initials: PL
authors.lastname: Bergsagel
authors.affiliation: Division of Hematology Oncology, Mayo Clinic, Scottsdale, AZ, USA.
authors.forename: A K
authors.initials: AK
authors.lastname: Stewart
mesh_terms: D000328:Adult; D000368:Aged; D000970:Antineoplastic Agents / Q000494:pharmacology / Q000627:therapeutic use; D060965:Clonal Evolution / Q000235:genetics; D056915:DNA Copy Number Variations; D004252:DNA Mutational Analysis; D005500:Follow-Up Studies; D018740:Genetic Heterogeneity; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008875:Middle Aged; D009101:Multiple Myeloma / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism / Q000401:mortality; D009154:Mutation; D011379:Prognosis; D015398:Signal Transduction / Q000187:drug effects
chemical_list: D000970:Antineoplastic Agents