TY  - JOUR
AU  - Alberge, Jean-Baptiste
AU  - Dutta, Ankit K
AU  - Poletti, Andrea
AU  - Coorens, Tim H H
AU  - Lightbody, Elizabeth D
AU  - Toenges, Rosa
AU  - Loinaz, Xavi
AU  - Wallin, Sofia
AU  - Dunford, Andrew
AU  - Priebe, Oliver
AU  - Dagan, Johnathan
AU  - Boehner, Cody J
AU  - Horowitz, Erica
AU  - Su, Nang K
AU  - Barr, Hadley
AU  - Hevenor, Laura
AU  - Towle, Katherine
AU  - Beesam, Rashmika
AU  - Beckwith, Jenna B
AU  - Perry, Jacqueline
AU  - Cordas Dos Santos, David M
AU  - Bertamini, Luca
AU  - Greipp, Patricia T
AU  - Kübler, Kirsten
AU  - Arndt, Peter F
AU  - Terragna, Carolina
AU  - Zamagni, Elena
AU  - Boyle, Eileen M
AU  - Yong, Kwee
AU  - Morgan, Gareth
AU  - Walker, Brian A
AU  - Dimopoulos, Meletios Athanasios
AU  - Kastritis, Efstathios
AU  - Hess, Julian
AU  - Sklavenitis-Pistofidis, Romanos
AU  - Stewart, Chip
AU  - Getz, Gad
AU  - Ghobrial, Irene M
TI  - Genomic landscape of multiple myeloma and its precursor conditions.
JO  - Nature genetics
VL  - 57
IS  - 6
SN  - 1061-4036
CY  - London
PB  - Macmillan Publishers Limited, part of Springer Nature
M1  - DKFZ-2025-01053
SP  - 1493-1503
PY  - 2025
N1  - 2025 Jun;57(6):1493-1503
AB  - Reliable strategies to capture patients at risk of progression from precursor stages of multiple myeloma (MM) to overt disease are still missing. We assembled a comprehensive collection of MM genomic data comprising 1,030 patients (218 with precursor conditions) that we used to identify recurrent coding and non-coding candidate drivers as well as significant hotspots of structural variation. We used those drivers to define and validate a simple 'MM-like' score, which we could use to place patients' tumors on a gradual axis of progression toward active disease. Our MM precursor genomic map provides insights into the time of initiation and cell-of-origin of the disease, order of acquisition of genomic alterations and mutational processes found across the stages of transformation. Taken together, we highlight here the potential of genome sequencing to better inform risk assessment and monitoring of MM precursor conditions.
LB  - PUB:(DE-HGF)16
C6  - pmid:40399554
DO  - DOI:10.1038/s41588-025-02196-0
UR  - https://inrepo02.dkfz.de/record/301516
ER  -