Whole-genome sequencing reveals progressive versus stable myeloma precursor conditions as two distinct entities.
作者： Ola Landgren , Ingrid Arijs , Ingrid Arijs , Dickran Kazandjian , Ellen Geerdens
DOI: 10.1038/S41467-021-22140-0
关键词: Human genetics 、 APOBEC 、 Cancer research 、 Chromothripsis 、 Genomic Profile 、 Multiple myeloma 、 Monoclonal 、 Monoclonal gammopathy of undetermined significance 、 Genome 、 Biology
摘要: Multiple myeloma (MM) is consistently preceded by precursor conditions recognized clinically as monoclonal gammopathy of undetermined significance (MGUS) or smoldering (SMM). We interrogate the whole genome sequence (WGS) profile 18 MGUS and compare them with those from 14 SMMs 80 MMs. show that cases a non-progressing, stable condition (n = 15) are characterized later initiation in patient’s life absence defining genomic events including: chromothripsis, templated insertions, mutations driver genes, aneuploidy, canonical APOBEC mutational activity. This data provides evidence WGS can be used to recognize two biologically distinct entities either progressive stable. The factors associated progression not well understood. Here authors find gammopathies myelomas did progress multiple have emerge life.
nature.com
sci-hub.st 参考文章(61)
S. Vincent Rajkumar, Ola Landgren, María-Victoria Mateos, Smoldering multiple myeloma Blood. ,vol. 125, pp. 3069- 3075 ,(2015) , 10.1182/BLOOD-2014-09-568899
Madhav V. Dhodapkar, Rachael Sexton, Sarah Waheed, Saad Usmani, Xenofon Papanikolaou, Bijay Nair, Nathan Petty, John D. Shaughnessy, Antje Hoering, John Crowley, Robert Z. Orlowski, Bart Barlogie, Clinical, genomic, and imaging predictors of myeloma progression from asymptomatic monoclonal gammopathies (SWOG S0120) Blood. ,vol. 123, pp. 78- 85 ,(2014) , 10.1182/BLOOD-2013-07-515239
Robert A Kyle, Monoclonal gammopathy of undetermined significance The American Journal of Medicine. ,vol. 64, pp. 814- 826 ,(1978) , 10.1016/0002-9343(78)90522-3
JAN G. WALDENSTRÖM, Benign monoclonal gammapathy Acta Medica Scandinavica. ,vol. 216, pp. 435- 447 ,(2009) , 10.1111/J.0954-6820.1984.TB05032.X
Robert A. Kyle, Ellen D. Remstein, Terry M. Therneau, Angela Dispenzieri, Paul J. Kurtin, Janice M. Hodnefield, Dirk R. Larson, Matthew F. Plevak, Diane F. Jelinek, Rafael Fonseca, Lee Joseph Melton, S. Vincent Rajkumar, Clinical course and prognosis of smoldering (asymptomatic) multiple myeloma. The New England Journal of Medicine. ,vol. 356, pp. 2582- 2590 ,(2007) , 10.1056/NEJMOA070389
L Lopez-Corral, María Eugenia Sarasquete, Silvia Beà, Ramón García-Sanz, Maria Victoria Mateos, LA Corchete, JM Sayagués, EM García, J Bladé, A Oriol, MT Hernández-García, P Giraldo, J Hernández, M González, JM Hernández-Rivas, JF San Miguel, NC Gutiérrez, None, SNP-based mapping arrays reveal high genomic complexity in monoclonal gammopathies, from MGUS to myeloma status Leukemia. ,vol. 26, pp. 2521- 2529 ,(2012) , 10.1038/LEU.2012.128
Robert A. Kyle, Philip R. Greipp, Smoldering Multiple Myeloma New England Journal of Medicine. ,vol. 302, pp. 1347- 1349 ,(1980) , 10.1056/NEJM198006123022405
Jens G. Lohr, Petar Stojanov, Scott L. Carter, Peter Cruz-Gordillo, Michael S. Lawrence, Daniel Auclair, Carrie Sougnez, Birgit Knoechel, Joshua Gould, Gordon Saksena, Kristian Cibulskis, Aaron McKenna, Michael A. Chapman, Ravid Straussman, Joan Levy, Louise M. Perkins, Jonathan J. Keats, Steven E. Schumacher, Mara Rosenberg, Gad Getz, Todd R. Golub, Kenneth C. Anderson, Paul Richardson, Amrita Krishnan, Sagar Lonial, Jonathan Kaufman, David S. Siegel, David H. Vesole, Vivek Roy, Candido E. Rivera, S. Vincent Rajkumar, Shaji Kumar, Rafael Fonseca, Greg J. Ahmann, P. Leif Bergsagel, A. Keith Stewart, Craig C. Hofmeister, Yvonne A. Efebera, Sundar Jagannath, Ajai Chari, Suzanne Trudel, Donna Reece, Jeffrey Wolf, Thomas Martin, Todd Zimmerman, Cara Rosenbaum, Andrzej J. Jakubowiak, Daniel Lebovic, Ravi Vij, Keith Stockerl-Goldstein, Widespread genetic heterogeneity in multiple myeloma: implications for targeted therapy Cancer Cell. ,vol. 25, pp. 91- 101 ,(2014) , 10.1016/J.CCR.2013.12.015
Brian A. Walker, Christopher P. Wardell, Alex Murison, Eileen M. Boyle, Dil B. Begum, Nasrin M. Dahir, Paula Z. Proszek, Lorenzo Melchor, Charlotte Pawlyn, Martin F. Kaiser, David C. Johnson, Ya-Wei Qiang, John R. Jones, David A. Cairns, Walter M. Gregory, Roger G. Owen, Gordon Cook, Mark T. Drayson, Graham H. Jackson, Faith E. Davies, Gareth J. Morgan, APOBEC family mutational signatures are associated with poor prognosis translocations in multiple myeloma Nature Communications. ,vol. 6, pp. 6997- 6997 ,(2015) , 10.1038/NCOMMS7997
O Landgren, B M Weiss, Patterns of monoclonal gammopathy of undetermined significance and multiple myeloma in various ethnic/racial groups: support for genetic factors in pathogenesis. Leukemia. ,vol. 23, pp. 1691- 1697 ,(2009) , 10.1038/LEU.2009.134