Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk disease

著者: Susan Branford, Paul Wang, David T Yeung, Daniel Thomson, Adrian Purins, Carol Wadham, Nur Hezrin Shahrin, Justine E. Marum, Nathalie Nataren, Wendy T Parker, Joel Geoghegan, Jinghua Feng, Naranie Shanmuganathan, Martin Mueller, Christian Dietz, Doris Stangl, Zoe Donaldson, Haley Altamura, Jasmina Georgievski, Jodi Braley, Anna Brown, Christopher N Hahn, Ieuan Walker, Soohyun Kim, Soo-Young Choi, Sa-Hee Park, Dong-Wook Kim, Deborah L. White, Agnes S. M. Yong, David M. Ross, Hamish S. Scott, Andreas Schreiber, Timothy P. Hughes - Blood 2018 被引用: 209

mutations in 62% of evaluable patients. Gene fusions not associated with the Ph translocation occurred in 42% of patients at BC and commonly involved fusion partners that were known cancer genes (78%). Genomic analysis revealed numerous relevant variants at diagnosis in patients with poor outcome and all patients at BC. Future refined biomarker testing of specific variants will likely provide prognostic information to facilitate a risk-adapted therapeutic approach.