Circulating tumor DNA as an early cancer detection tool

被引：161

作者：

Campos-Carrillo, Andrea ^{[1
]}

Weitzel, Jeffrey N. ^{[1
]}

Sahoo, Prativa ^{[1
]}

Rockne, Russell ^{[1
]}

Mokhnatkin, Janet V. ^{[1
]}

Murtaza, Muhammed ^{[2
]}

Gray, Stacy W. ^{[1
]}

Goetz, Laura ^{[1
,2
]}

Goel, Ajay ^{[1
]}

Schork, Nicholas ^{[1
,2
]}

Slavin, Thomas P. ^{[1
]}

机构：

[1] City Hope Natl Med Ctr, Bldg 173,Room 131,1500 E Duarte Rd, Duarte, CA 91010 USA

[2] Translat Genom Res Inst, Phoenix, AZ 85004 USA

来源：

PHARMACOLOGY & THERAPEUTICS | 2020年 / 207卷

基金：

美国国家卫生研究院;

关键词：

Circulating tumor DNA; Early detection; Cell-free DNA; Cancer screening; Cancer detection; BIOMARKERS; EXOSOMES; AUTOANTIBODIES;

D O I：

10.1016/j.pharmthera.2019.107458

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

Circulating tumor DNA holds substantial promise as an early detection biomarker, particularly for cancers that do not have currently accepted screening methodologies, such as ovarian, pancreatic, and gastric cancers. Many features intrinsic to ctDNA analysis may be leveraged to enhance its use as an early cancer detection biomarker: including ctDNA fragment lengths, DNA copy number variations, and associated patient phenotypic information. Furthermore, ctDNA testing may be synergistically used with other multi-omic biomarkers to enhance early detection. For instance, assays may incorporate early detection proteins (i.e., CA-125), epigenetic markers, circulating tumor RNA, nucleosomes, exosomes, and associated immune markers. Many companies are currently competing to develop a marketable early cancer detection test that leverages ctDNA. Although some hurdles (like early stage disease assay accuracy, high implementation costs, confounding from clonal hematopoiesis, and lack of clinical utility studies) need to be addressed before integration into healthcare, ctDNA assays hold substantial potential as an early cancer screening test. (C) 2019 Elsevier Inc. All rights reserved.

引用

页数：6

共 55 条

[1] Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution [J].

Abbosh, Christopher ;

Birkbak, Nicolai J. ;

Wilson, Gareth A. ;

Jamal-Hanjani, Mariam ;

Constantin, Tudor ;

Salari, Raheleh ;

Le Quesne, John ;

Moore, David A. ;

Veeriah, Selvaraju ;

Rosenthal, Rachel ;

Marafioti, Teresa ;

Kirkizlar, Eser ;

Watkins, Thomas B. K. ;

McGranahan, Nicholas ;

Ward, Sophia ;

Martinson, Luke ;

Riley, Joan ;

Fraioli, Francesco ;

Al Bakir, Maise ;

Gronroos, Eva ;

Zambrana, Francisco ;

Endozo, Raymondo ;

Bi, Wenya Linda ;

Fennessy, Fiona M. ;

Sponer, Nicole ;

Johnson, Diana ;

Laycock, Joanne ;

Shafi, Seema ;

Czyzewska-Khan, Justyna ;

Rowan, Andrew ;

Chambers, Tim ;

Matthews, Nik ;

Turajlic, Samra ;

Hiley, Crispin ;

Lee, Siow Ming ;

Forster, Martin D. ;

Ahmad, Tanya ;

Falzon, Mary ;

Borg, Elaine ;

Lawrence, David ;

Hayward, Martin ;

Kolvekar, Shyam ;

Panagiotopoulos, Nikolaos ;

Janes, Sam M. ;

Thakrar, Ricky ;

Ahmed, Asia ;

Blackhall, Fiona ;

Summers, Yvonne ;

Hafez, Dina ;

Naik, Ashwini .

NATURE, 2017, 545 (7655) :446-+

[2] Tumor exosomes expressing Fas ligand mediate CD8+ T-cell apoptosis [J].

Abusamra, AJ ;

Zhong, ZH ;

Zheng, XF ;

Li, M ;

Ichim, TE ;

Chin, JL ;

Min, WP .

BLOOD CELLS MOLECULES AND DISEASES, 2005, 35 (02) :169-173

[3] Clinical Implications of Plasma-Based Genotyping With the Delivery of Personalized Therapy in Metastatic Non-Small Cell Lung Cancer [J].

Aggarwal, Charu ;

Thompson, Jeffrey C. ;

Black, Taylor A. ;

Katz, Sharyn I. ;

Fan, Ryan ;

Yee, Stephanie S. ;

Chien, Austin L. ;

Evans, Tracey L. ;

Bauml, Joshua M. ;

Alley, Evan W. ;

Ciunci, Christine A. ;

Berman, Abigail T. ;

Cohen, Roger B. ;

Lieberman, David B. ;

Majmundar, Krishna S. ;

Savitch, Samantha L. ;

Morrissette, Jennifer J. D. ;

Hwang, Wei-Ting ;

Elenitoba-Johnson, Kojo S. J. ;

Langer, Corey J. ;

Carpenter, Erica L. .

JAMA ONCOLOGY, 2019, 5 (02) :173-180

[4] Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing [J].

Amant, Frederic ;

Verheecke, Magali ;

Wlodarska, Iwona ;

Dehaspe, Luc ;

Brady, Paul ;

Brison, Nathalie ;

Van den Bogaert, Kris ;

Dierickx, Daan ;

Vandecaveye, Vincent ;

Tousseyn, Thomas ;

Moerman, Philippe ;

Vanderstichele, Adriaan ;

Vergote, Ignace ;

Neven, Patrick ;

Berteloot, Patrick ;

Putseys, Katrien ;

Danneels, Lode ;

Vandenberghe, Peter ;

Legius, Eric ;

Vermeesch, Joris Robert .

JAMA ONCOLOGY, 2015, 1 (06) :814-819

[5]

[Anonymous], MATH MODELING CHALLE

[6] Next-Generation Sequencing of Circulating Tumor DNA for Early Cancer Detection [J].

Aravanis, Alexander M. ;

Lee, Mark ;

Klausner, Richard D. .

CELL, 2017, 168 (04) :571-574

[7] Differentiation of mammary tumors and reduction in metastasis upon Malat1 lncRNA loss [J].

Arun, Gayatri ;

Diermeier, Sarah ;

Akerman, Martin ;

Chang, Kung-Chi ;

Wilkinson, J. Erby ;

Hearn, Stephen ;

Kim, Youngsoo ;

MacLeod, A. Robert ;

Krainer, Adrian R. ;

Norton, Larry ;

Brogi, Edi ;

Egeblad, Mikala ;

Spector, David L. .

GENES & DEVELOPMENT, 2016, 30 (01) :34-51

[8] 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)

[9] Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies [J].

Bianchi, Diana W. ;

Chudova, Darya ;

Sehnert, Amy J. ;

Bhatt, Sucheta ;

Murray, Kathryn ;

Prosen, Tracy L. ;

Garber, Judy E. ;

Wilkins-Haug, Louise ;

Vora, Neeta L. ;

Warsof, Stephen ;

Goldberg, James ;

Ziainia, Tina ;

Halks-Miller, Meredith .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2015, 314 (02) :162-169

[10]

Burke Harry B, 2016, Biomark Cancer, V8, P89, DOI 10.4137/BIC.S33380

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