Comprehensive Genomic Profiling of Renal Cell Carcinoma at Initial Diagnosis and Putative Local Recurrence

European Urology Focus - Tập 4 - Trang 267-269 - 2018
Zachary R. Chalmers1, Adrienne Johnson1, Siraj M. Ali1, Garrett M. Frampton1, Vincent Miller1, Jeffrey S. Ross1,2, Sumanta K. Pal3
1Foundation Medicine, Cambridge, MA, USA
2Department of Pathology and Laboratory Medicine, Albany Medical College, Albany, NY, USA
3Department of Medical Oncology and Experimental Therapeutics, City of Hope Comprehensive Cancer Center, Duarte, CA, USA

Tài liệu tham khảo

Frampton, 2013, Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing, Nature Biotechnol, 31, 1023, 10.1038/nbt.2696 Sun, 2014, A computational method for somatic versus germline variant status determination from targeted next-generation sequencing of clinical cancer specimens without a matched normal control, Cancer Res, 74, 1893, 10.1158/1538-7445.AM2014-1893 Gerlinger, 2012, Intratumor heterogeneity and branched evolution revealed by multiregion sequencing, N Engl J Med, 366, 883, 10.1056/NEJMoa1113205 Varela, 2011, Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma, Nature, 469, 539, 10.1038/nature09639 Kapur, 2013, Effects on survival of BAP1 and PBRM1 mutations in sporadic clear-cell renal-cell carcinoma: a retrospective analysis with independent validation, Lancet Oncol, 14, 159, 10.1016/S1470-2045(12)70584-3 2013, Comprehensive molecular characterization of clear cell renal cell carcinoma, Nature, 499, 43, 10.1038/nature12222 Rini, 2015, A 16-gene assay to predict recurrence after surgery in localised renal cell carcinoma: development and validation studies, Lancet Oncol, 16, 676, 10.1016/S1470-2045(15)70167-1 Yakirevich, 2015, A novel SDHA-deficient renal cell carcinoma revealed by comprehensive genomic profiling, Am J Surg Pathol, 39, 858, 10.1097/PAS.0000000000000403