Non-invasive detection of upper tract urothelial carcinomas through the analysis of driver gene mutations and aneuploidy in urine
Year: 2017
Type: preprint
Study design: Observational Study
Abstract: Upper tract urothelial carcinomas (UTUC) of the renal pelvis or ureter can be difficult to detect and challenging to diagnose. Here, we report the development and application of a non-invasive test for UTUC based on molecular analyses of DNA recovered from cells shed into the urine. The test, called UroSEEK, incorporates assays for mutations in eleven genes frequently mutated in urologic malignancies and for allelic imbalances on 39 chromosome arms. At least one genetic abnormality was detected in 75% of urinary cell samples from 56 UTUC patients but in only 0.5% of 188 samples from healthy individuals. The assay was considerably more sensitive than urine cytology, the current standard-of-care. UroSEEK therefore has the potential to be used for screening or to aid in diagnosis in patients at increased risk for UTUC, such as those exposed to herbal remedies containing the carcinogen aristolochic acid.
DOI: 10.1101/203968
Authors: Simeon Springer, Chung-Hsin Chen, Lu Li, Chris Douville, Yuxuan Wang, Josh Cohen, Bahman Afsari, Ludmila Danilova, Natalie Silliman, Joy Schaeffer, Janine Ptak, Lisa Dobbyn, Maria Papoli, Isaac Kinde, Chao-Yuan Huang, Chia-Tung Shun, Rachel Karchin, George J. Netto, Robert J. Turesky, Byeong Hwa Yun, Thomas A. Rosenquist, Ralph H. Hruban, Yeong-Shiau Pu, Arthur P. Grollman, Cristian Tomasetti, Nickolas Papadopoulos, Kenneth W. Kinzler, Bert Vogelstein, Kathleen G. Dickman
Institutions: Howard Hughes Medical Institute, Johns Hopkins University, National Taiwan University, National Taiwan University Hospital, Johns Hopkins Medicine, Sidney Kimmel Comprehensive Cancer Center, University of Alabama at Birmingham, University of Minnesota, Masonic Cancer Center, Stony Brook University
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2766424634