title: Comprehensive genomic profiling of IgM multiple myeloma identifies IRF4 as a prognostic marker.
abstract: Immunoglobulin M multiple myeloma (IgM MM) is an extremely rare subtype of multiple myeloma with a poor clinical outcome. In this study, bone marrow aspirates of MM patients, including two cases of IgM MM, were analyzed by whole exome sequencing and RNA sequencing. Recurrent somatic mutations in the NRAS, KRAS, CCND1, DIS3, and TP53 genes were found in IgM MM and other types of MM, in agreement with previous studies. Overall transcription profiles of IgM and other types of MM clustered together, but separate from normal blood or peripheral plasma cells. Among the differentially expressed genes in IgM MM, IRF4 was highly expressed in IgM as well as in a subset of other types of MM patients. Thus, IRF4 is an independent prognostic factor for general MM patients. Taken together, the somatic mutation and transcriptome profiles support the idea that IgM MM can be classified as an aggressive MM subtype.
authors.affiliation: Samsung Genome Institute, Sungkyunkwan University School of Medicine, Seoul, Korea.|Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Daeun
authors.initials: D
authors.lastname: Ryu
authors.affiliation: Department of Laboratory Medicine & Genetics, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Hee Jin
authors.initials: HJ
authors.lastname: Kim
authors.affiliation: Samsung Genome Institute, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Je-Gun
authors.initials: JG
authors.lastname: Joung
authors.affiliation: Samsung Genome Institute, Sungkyunkwan University School of Medicine, Seoul, Korea.|Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Hae-Ock
authors.initials: HO
authors.lastname: Lee
authors.affiliation: Samsung Genome Institute, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Joon Seol
authors.initials: JS
authors.lastname: Bae
authors.affiliation: Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Seok Jin
authors.initials: SJ
authors.lastname: Kim
authors.affiliation: Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Haesu
authors.initials: H
authors.lastname: Kim
authors.affiliation: Samsung Genome Institute, Sungkyunkwan University School of Medicine, Seoul, Korea.|Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University School of Medicine, Seoul, Korea.|Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Woong-Yang
authors.initials: WY
authors.lastname: Park
authors.affiliation: Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Kihyun
authors.initials: K
authors.lastname: Kim
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics*; D018572:Disease-Free Survival; D005260:Female; D023281:Genomics; D006801:Humans; D007075:Immunoglobulin M / Q000235:genetics*; D050835:Interferon Regulatory Factors / Q000235:genetics*; D008297:Male; D009101:Multiple Myeloma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D011379:Prognosis; D000099218:Interferon Regulatory Factor-4
chemical_list: D014408:Biomarkers, Tumor; D007075:Immunoglobulin M; D050835:Interferon Regulatory Factors; D000099218:Interferon Regulatory Factor-4
keywords: IRF4; IgM; multiple myeloma; progression-free survival; sequencing