Analysis of solid tumor mutation profiles in liquid biopsy

被引:19
作者
Balaji, Sai A. [1 ,2 ]
Shanmugam, Ashwini [1 ]
Chougule, Anuradha [3 ]
Sridharan, Srikant [1 ]
Prabhash, Kumar [3 ]
Arya, Anuradha [2 ]
Chaubey, Aditya [2 ]
Hariharan, Arun [1 ,2 ]
Kolekar, Pandurang [1 ]
Sen, Manimala [1 ]
Ravichandran, Aarthi [1 ]
Katragadda, Shanmukh [1 ]
Sankaran, Satish [1 ]
Bhargava, Saurabh [4 ]
Kulkarni, Prashanth [4 ]
Rao, Suchitra [4 ]
Sunkavalli, Chinnababu [5 ]
Banavali, Shripad [3 ]
Joshi, Amit [3 ]
Noronha, Vanita [3 ]
Dutt, Amit [6 ]
Bahadur, Urvashi [1 ]
Hariharan, Ramesh [1 ]
Veeramachaneni, Vamsi [1 ]
Gupta, Vaijayanti [1 ,2 ]
机构
[1] Strand Life Sci Pvt Ltd, Bangalore, Karnataka, India
[2] Mazumdar Shaw Med Fdn, Mazumdar Shaw Ctr Translat Res, Bangalore, Karnataka, India
[3] Tata Mem Hosp, Bombay, Maharashtra, India
[4] Mazumdar Shaw Med Ctr, Bangalore, Karnataka, India
[5] Apollo Canc Specialty Hosp, Hyderabad, Telangana, India
[6] Tata Mem Hosp, Adv Ctr Treatment Res & Educ Canc, Raigad, Maharashtra, India
关键词
concordance; ctDNA; monitoring; prognosis; survival outcome; CELL-FREE DNA; CANCER PATIENTS; LUNG-CANCER; PLASMA;
D O I
10.1002/cam4.1791
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Liquid biopsy is increasingly gaining traction as an alternative to invasive solid tumor biopsies for prognosis, treatment decisions, and disease monitoring. Matched tumor-plasma samples were collected from 180 patients across different cancers with >90% of the samples below Stage IIIB. Tumors were profiled using next-generation sequencing (NGS) or quantitative PCR (qPCR), and the mutation status was queried in the matched plasma using digital platforms such as droplet digital PCR (ddCPR) or NGS for concordance. Tumor-plasma concordance of 82% and 32% was observed in advanced (Stage IIB and above) and early (Stage I to Stage IIA) stage samples, respectively. Interestingly, the overall survival outcomes correlated to presurgical/at-biopsy ctDNA levels. Baseline ctDNA stratified patients into three categories: (a) high ctDNA correlated with poor survival outcome, (b) undetectable ctDNA with good outcome, and (c) low ctDNA whose outcome was ambiguous. ctDNA could be a powerful tool for therapy decisions and patient management in a large number of cancers across a variety of stages.
引用
收藏
页码:5439 / 5447
页数:9
相关论文
共 36 条
[1]   Circulating Cell-Free DNA: A Promising Marker of Pathologic Tumor Response in Rectal Cancer Patients Receiving Preoperative Chemoradiotherapy [J].
Agostini, Marco ;
Pucciarelli, Salvatore ;
Enzo, Maria Vittoria ;
Del Bianco, Paola ;
Briarava, Marta ;
Bedin, Chiara ;
Maretto, Isacco ;
Friso, Maria Luisa ;
Lonardi, Sara ;
Mescoli, Claudia ;
Toppan, Paola ;
Urso, Emanuele ;
Nitti, Donato .
ANNALS OF SURGICAL ONCOLOGY, 2011, 18 (09) :2461-2468
[2]   Detection of Cancer DNA in Plasma of Patients with Early-Stage Breast Cancer [J].
Beaver, Julia A. ;
Jelovac, Danijela ;
Balukrishna, Sasidharan ;
Cochran, Rory L. ;
Croessmann, Sarah ;
Zabransky, Daniel J. ;
Wong, Hong Yuen ;
Toro, Patricia Valda ;
Cidado, Justin ;
Blair, Brian G. ;
Chu, David ;
Burns, Timothy ;
Higgins, Michaela J. ;
Stearns, Vered ;
Jacobs, Lisa ;
Habibi, Mehran ;
Lange, Julie ;
Hurley, Paula J. ;
Lauring, Josh ;
VanDenBerg, Dustin A. ;
Kessler, Jill ;
Jeter, Stacie ;
Samuels, Michael L. ;
Maar, Dianna ;
Cope, Leslie ;
Cimino-Mathews, Ashley ;
Argani, Pedram ;
Wolff, Antonio C. ;
Park, Ben Ho .
CLINICAL CANCER RESEARCH, 2014, 20 (10) :2643-2650
[3]   Detection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies [J].
Bettegowda, Chetan ;
Sausen, Mark ;
Leary, Rebecca J. ;
Kinde, Isaac ;
Wang, Yuxuan ;
Agrawal, Nishant ;
Bartlett, Bjarne R. ;
Wang, Hao ;
Luber, Brandon ;
Alani, Rhoda M. ;
Antonarakis, Emmanuel S. ;
Azad, Nilofer S. ;
Bardelli, Alberto ;
Brem, Henry ;
Cameron, John L. ;
Lee, Clarence C. ;
Fecher, Leslie A. ;
Gallia, Gary L. ;
Gibbs, Peter ;
Le, Dung ;
Giuntoli, Robert L. ;
Goggins, Michael ;
Hogarty, Michael D. ;
Holdhoff, Matthias ;
Hong, Seung-Mo ;
Jiao, Yuchen ;
Juhl, Hartmut H. ;
Kim, Jenny J. ;
Siravegna, Giulia ;
Laheru, Daniel A. ;
Lauricella, Calogero ;
Lim, Michael ;
Lipson, Evan J. ;
Marie, Suely Kazue Nagahashi ;
Netto, George J. ;
Oliner, Kelly S. ;
Olivi, Alessandro ;
Olsson, Louise ;
Riggins, Gregory J. ;
Sartore-Bianchi, Andrea ;
Schmidt, Kerstin ;
Shih, Ie-Ming ;
Oba-Shinjo, Sueli Mieko ;
Siena, Salvatore ;
Theodorescu, Dan ;
Tie, Jeanne ;
Harkins, Timothy T. ;
Veronese, Silvio ;
Wang, Tian-Li ;
Weingart, Jon D. .
SCIENCE TRANSLATIONAL MEDICINE, 2014, 6 (224)
[4]   Circulating Tumor DNA Detection in Early-Stage Non-Small Cell Lung Cancer Patients by Targeted Sequencing [J].
Chen, Ke-Zhong ;
Lou, Feng ;
Yang, Fan ;
Zhang, Jing-Bo ;
Ye, Hua ;
Chen, Wei ;
Guan, Tian ;
Zhao, Ming-Yu ;
Su, Xue-Xia ;
Shi, Rong ;
Jones, Lindsey ;
Huang, Xue F. ;
Chen, Si-Yi ;
Wang, Jun .
SCIENTIFIC REPORTS, 2016, 6
[5]   Liquid Biopsy Analysis of FGFR3 and PIK3CA Hotspot Mutations for Disease Surveillance in Bladder Cancer [J].
Christensen, Emil ;
Birkenkamp-Demtroder, Karin ;
Nordentoft, Iver ;
Hoyer, Soren ;
van der Keur, Kirstin ;
van Kessel, Kim ;
Zwarthoff, Ellen ;
Agerbaek, Mads ;
Orntoft, Torben Falck ;
Jensen, Jorgen Bjerggaard ;
Dyrskjot, Lars .
EUROPEAN UROLOGY, 2017, 71 (06) :961-969
[6]   NONPARAMETRIC-ESTIMATION OF LIFETIME AND DISEASE ONSET DISTRIBUTIONS FROM INCOMPLETE OBSERVATIONS [J].
DINSE, GE ;
LAGAKOS, SW .
BIOMETRICS, 1982, 38 (04) :921-932
[7]   Identification of Circulating Tumor DNA for the Early Detection of Small-cell Lung Cancer [J].
Fernandez-Cuesta, Lynnette ;
Perdomo, Sandra ;
Avogbe, Patrice H. ;
Leblay, Noemie ;
Delhomme, Tiffany M. ;
Gaborieau, Valerie ;
Abedi-Ardekani, Behnoush ;
Chanudet, Estelle ;
Olivier, Magali ;
Zaridze, David ;
Mukeria, Anush ;
Vilensky, Marta ;
Holcatova, Ivana ;
Polesel, Jerry ;
Simonato, Lorenzo ;
Canova, Cristina ;
Lagiou, Pagona ;
Brambilla, Christian ;
Brambilla, Elisabeth ;
Byrnes, Graham ;
Scelo, Ghislaine ;
Le Calvez-Kelm, Florence ;
Foll, Matthieu ;
McKay, James D. ;
Brennan, Paul .
EBIOMEDICINE, 2016, 10 :117-123
[8]  
Garcia-Murillas I., 2015, Sci Transl Med, V7, p302ra133
[9]   Digital PCR analysis of circulating tumor DNA: a biomarker for chondrosarcoma diagnosis, prognostication, and residual disease detection [J].
Gutteridge, Alice ;
Rathbone, Victoria M. ;
Gibbons, Rebecca ;
Bi, Mark ;
Archard, Nicholas ;
Davies, Kate E. J. ;
Brown, Jake ;
Plagnol, Vincent ;
Pillay, Nischalan ;
Amary, Fernanda ;
O'Donnell, Paul ;
Gupta, Manu ;
Tirabosco, Roberto ;
Flanagan, Adrienne M. ;
Forshew, Tim .
CANCER MEDICINE, 2017, 6 (10) :2194-2202
[10]   High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number [J].
Hindson, Benjamin J. ;
Ness, Kevin D. ;
Masquelier, Donald A. ;
Belgrader, Phillip ;
Heredia, Nicholas J. ;
Makarewicz, Anthony J. ;
Bright, Isaac J. ;
Lucero, Michael Y. ;
Hiddessen, Amy L. ;
Legler, Tina C. ;
Kitano, Tyler K. ;
Hodel, Michael R. ;
Petersen, Jonathan F. ;
Wyatt, Paul W. ;
Steenblock, Erin R. ;
Shah, Pallavi H. ;
Bousse, Luc J. ;
Troup, Camille B. ;
Mellen, Jeffrey C. ;
Wittmann, Dean K. ;
Erndt, Nicholas G. ;
Cauley, Thomas H. ;
Koehler, Ryan T. ;
So, Austin P. ;
Dube, Simant ;
Rose, Klint A. ;
Montesclaros, Luz ;
Wang, Shenglong ;
Stumbo, David P. ;
Hodges, Shawn P. ;
Romine, Steven ;
Milanovich, Fred P. ;
White, Helen E. ;
Regan, John F. ;
Karlin-Neumann, George A. ;
Hindson, Christopher M. ;
Saxonov, Serge ;
Colston, Bill W. .
ANALYTICAL CHEMISTRY, 2011, 83 (22) :8604-8610