Integrative_Oncogenomics_of_Multiple_Myeloma - EGA European Genome-Phenome Archive

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Dataset ID	Description	Technology	Samples
EGAD00001000074	Integrative Oncogenomics of Multiple Myeloma	Illumina Genome Analyzer II Illumina HiSeq 2000	174
EGAD00001000339	Multiple myeloma is an incurable plasma cell malignancy whose molecular pathogenesis is incompletely understood. We used whole exome sequencing, copy number profiling and cytogenetic to analyses 84 samples from 67 patients with myeloma. In addition to known myeloma genes, we identify new candidate genes, including truncations of SP140, ROBO1 and FAT3 and clustered missense mutations in EGR1. We find oncogenic mutations in cancer genes not previously implicated in myeloma, including SF3B1, PI3KCA and PTEN. We define diverse processes contributing to the mutational repertoire, including kataegis and somatic hypermutation. Most cases have at least one cluster of subclonal variants, including subclonal driver mutations, implying on-going tumor evolution. Serial samples revealed diverse patterns of clonal evolution, including linear evolution, differential clonal response and branching evolution. Our findings reveal the myeloma genome to be heterogeneous across patients and, within individual patients, to exhibit diversity in clonal admixture and dynamics in response to therapy.	Illumina Genome Analyzer II Illumina HiSeq 2000	154
EGAD00010000395	Myeloma case sample genotype using Affymetrix SNP6.0	Affymetrix_SNP6	19

Publications	Citations
Heterogeneity of genomic evolution and mutational profiles in multiple myeloma. Bolli N, Avet-Loiseau H, Wedge DC, Van Loo P, Alexandrov LB, Martincorena I, Dawson KJ, Iorio F, Nik-Zainal S, Bignell GR, Hinton JW, Li Y, Tubio JM, McLaren S, O' Meara S, Butler AP, Teague JW, Mudie L, Anderson E, Rashid N, Tai YT, Shammas MA, Sperling AS, Fulciniti M, Richardson PG, Parmigiani G, Magrangeas F, Minvielle S, Moreau P, Attal M, Facon T, Futreal PA, Anderson KC, Campbell PJ, Munshi NC. Nat Commun 5: 2014 2997	561
Identification of novel mutational drivers reveals oncogene dependencies in multiple myeloma. Walker BA, Mavrommatis K, Wardell CP, Ashby TC, Bauer M, Davies FE, Rosenthal A, Wang H, Qu P, Hoering A, Samur M, Towfic F, Ortiz M, Flynt E, Yu Z, Yang Z, Rozelle D, Obenauer J, Trotter M, Auclair D, Keats J, Bolli N, Fulciniti M, Szalat R, Moreau P, Durie B, Stewart AK, Goldschmidt H, Raab MS, Einsele H, Sonneveld P, San Miguel J, Lonial S, Jackson GH, Anderson KC, Avet-Loiseau H, Munshi N, Thakurta A, Morgan GJ. Blood 132: 2018 587-597	256
Genomic analysis of primary plasma cell leukemia reveals complex structural alterations and high-risk mutational patterns. Schinke C, Boyle EM, Ashby C, Wang Y, Lyzogubov V, Wardell C, Qu P, Hoering A, Deshpande S, Ryan K, Thanendrarajan S, Mohan M, Yarlagadda N, Khan M, Choudhury SR, Zangari M, van Rhee F, Davies F, Barlogie B, Morgan G, Walker BA. Blood Cancer J 10: 2020 70	16
Genomic Classification and Individualized Prognosis in Multiple Myeloma. Maura F, Rajanna AR, Ziccheddu B, Poos AM, Derkach A, Maclachlan K, Durante M, Diamond B, Papadimitriou M, Davies F, Boyle EM, Walker B, Hultcrantz M, Silva A, Hampton O, Teer JK, Siegel EM, Bolli N, Jackson GH, Kaiser M, Pawlyn C, Cook G, Kazandjian D, Stein C, Chesi M, Bergsagel L, Mai EK, Goldschmidt H, Weisel KC, Fenk R, Raab MS, Van Rhee F, Usmani S, Shain KH, Weinhold N, Morgan G, Landgren O. J Clin Oncol 42: 2024 1229-1240	15