Liquid Biopsies: Genotyping Circulating Tumor DNA

American Society of Clinical Oncology (ASCO) - Tập 32 Số 6 - Trang 579-586 - 2014
Luis A. Díaz1, Alberto Bardelli1
1Luis A. Diaz Jr, Swim Across America Laboratory and Ludwig Center for Cancer Genetics and Therapeutics, Johns Hopkins University School of Medicine, Baltimore, MD; and Alberto Bardelli, Institute for Cancer Research and Treatment at Candiolo, University of Torino, Candiolo, and the Fondazione Italiana per la Ricerca sul Cancro Institute of Molecular Oncology, Milan, Italy.

Tóm tắt

Genotyping tumor tissue in search of somatic genetic alterations for actionable information has become routine practice in clinical oncology. Although these sequence alterations are highly informative, sampling tumor tissue has significant inherent limitations; tumor tissue is a single snapshot in time, is subject to selection bias resulting from tumor heterogeneity, and can be difficult to obtain. Cell-free fragments of DNA are shed into the bloodstream by cells undergoing apoptosis or necrosis, and the load of circulating cell-free DNA (cfDNA) correlates with tumor staging and prognosis. Moreover, recent advances in the sensitivity and accuracy of DNA analysis have allowed for genotyping of cfDNA for somatic genomic alterations found in tumors. The ability to detect and quantify tumor mutations has proven effective in tracking tumor dynamics in real time as well as serving as a liquid biopsy that can be used for a variety of clinical and investigational applications not previously possible.

Từ khóa


Tài liệu tham khảo

Mandel P, 1948, C R Seances Soc Biol Fil, 142, 241

10.1146/annurev-genom-090711-163806

10.1016/S0140-6736(97)02174-0

10.1056/NEJM199812103392402

10.1038/nm.2312

10.1073/pnas.0808319105

10.1373/clinchem.2010.158030

10.1093/ndt/gfr695

10.1515/CCLM.2006.252

10.1196/annals.1448.014

10.1093/ndt/gfs255

10.1196/annals.1368.037

10.1016/S0009-8981(02)00337-6

10.2143/AC.64.1.2034362

10.1016/j.clinbiochem.2011.06.083

10.3109/17482941.2010.513732

10.1038/nm.1789

10.1016/j.cca.2012.08.001

10.1089/neu.2011.1938

10.1016/j.cca.2010.11.036

10.1073/pnas.0507904102

10.1093/jnci/djp240

10.1073/pnas.96.16.9236

10.1073/pnas.1133470100

10.2144/00295rr03

10.1002/ijc.22598

10.1158/1078-0432.CCR-05-2324

10.1158/1078-0432.CCR-06-2120

10.4137/CPath.S8798

10.1056/NEJMoa0800668

10.1158/1078-0432.CCR-08-2592

10.1158/1078-0432.CCR-11-3148

10.1158/1078-0432.CCR-05-2047

10.1373/clinchem.2008.113035

10.1093/nar/17.7.2503

10.1016/S1525-1578(10)60571-5

10.1126/scitranslmed.3003726

10.1038/nmeth850

10.1158/1078-0432.CCR-11-2696

10.1073/pnas.1105422108

10.1126/scitranslmed.3000702

Taly V, Clin Chem

10.1056/NEJMoa1213261

10.1038/nature12065

10.1126/scitranslmed.3004742

10.1007/s13277-012-0634-6

10.1002/jcla.21548

No JH, 2012, Anticancer Res, 32, 3467

Park JL, 2012, Oncol Lett, 3, 921

10.1371/journal.pone.0049843

10.1158/1078-0432.CCR-08-1910

10.1039/c1mb05197k

10.1196/annals.1448.025

Fleischhacker M, 2007, Biochim Biophys Acta, 1775, 181

Jahr S, 2001, Cancer Res, 61, 1659

10.1016/S0009-8981(01)00665-9

10.1038/284555a0

10.1371/journal.pone.0023418

10.1373/clinchem.2003.024893

10.1038/nature11156

10.1200/JCO.2012.43.1718

10.1056/NEJMoa1113205

10.1126/science.1235122

10.1038/nrclinonc.2013.80

10.1038/nature11219

10.1093/jjco/hyf011

10.1177/172460089901400207

10.1093/annonc/mdl120

Bidard FC, Int J Cancer

10.6004/jnccn.2013.0025

10.1371/journal.pmed.0020073

10.1158/1078-0432.CCR-04-2245

10.1182/blood-2002-09-2896

10.1158/1078-0432.CCR-11-1712

10.1038/nrclinonc.2013.42

10.1038/nature08802

10.1038/nrm2718

10.1038/nbt.1559

10.1158/1541-7786.MCR-09-0314

10.1002/gcc.20815

10.1373/clinchem.2012.196014

10.1073/pnas.0308716101

10.1073/pnas.202610899

10.1080/07357900500449546

10.1002/cbic.200900630

10.1373/clinchem.2009.140244