Liquid biopsy

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Liquid biopsy
SynonymsFluid biopsy
Purposeanalysis of non-solid biological tissue

A liquid biopsy, also known as fluid biopsy or fluid phase biopsy, is the sampling and analysis of non-solid biological tissue, primarily blood.[1] Like traditional biopsy this type of technique is mainly used as a diagnostic and monitoring tool for diseases such as cancer, with the added benefit of being largely non-invasive. Therefore, it can also be done more frequently which can better track tumors and mutations over a duration of time. It may also be used to validate the efficiency of a cancer treatment drug by taking multiple liquid biopsy samples in the span of a few weeks. The technology may also prove beneficial for patients after treatment to monitor relapse.[2]

Although only CellSearch method for enumeration of circulating tumor cells in metastatic breast, metastatic colon, and metastatic prostate cancer has been validated and approved by the FDA as a useful prognostic method,[3] its clinical implementation is not yet widespread.[4]


There are several types of liquid biopsy methods; method selection depends on the condition that is being studied.

A wide variety of biomarkers may be studied to detect or monitor other diseases. For example, isolation of protoporphyrin IX from blood samples can be used as a diagnostic tool for atherosclerosis.[7] When studying the central nervous system, cerebrospinal fluid may be sampled instead of blood.[8][9]

How it works[edit]

When tumor cells die, they release ctDNA into the blood.[10] Cancer mutations in ctDNA mirror those found in traditional tumor biopsies, which allows them to be used as molecular biomarkers to track the disease.[11] Scientists can purify and then analyze ctDNA using next-generation sequencing (NGS) or PCR-based methods such as digital PCR.[12] NGS-based methods provide a comprehensive view of a cancer’s genetic makeup and is especially useful in diagnosis while digital PCR offers a more targeted approach especially well-suited for detecting minimal residual disease and for monitoring treatment response and disease progression.[13][14] Recent progress in epigenetics has expanded the use of liquid biopsy for the detection of early-stage cancers, including by approaches such as Cancer Likelihood in Plasma (CLiP) .[15]

Liquid biopsies can detect changes in tumor burden months or years before conventional imaging tests can, making them suitable for early tumor detection, monitoring, and detection of resistance mutations.[16][17][18]

See also[edit]


  1. ^ Crowley, Emily; Di Nicolantonio, Federica; Loupakis, Fotios; Bardelli, Alberto (9 July 2013). "Liquid biopsy: monitoring cancer-genetics in the blood". Nature Reviews Clinical Oncology. 10 (8): 472–484. doi:10.1038/nrclinonc.2013.110. PMID 23836314.
  2. ^ "Understanding cancer's unruly origins helps early diagnosis". The Economist. Retrieved 2017-09-29.
  3. ^ Karachaliou, N; Mayo-de-Las-Casas, C; Molina-Vila, MA; Rosell, R (March 2015). "Real-time liquid biopsies become a reality in cancer treatment". Annals of Translational Medicine. 3 (3): 36. doi:10.3978/j.issn.2305-5839.2015.01.16. PMC 4356857. PMID 25815297.
  4. ^ Gingras, Isabelle; Salgado, Roberto; Ignatiadis, Michail (November 2015). "Liquid biopsy: will it be the 'magic tool' for monitoring response of solid tumors to anticancer therapies?". Current Opinion in Oncology. 27 (6): 560–567. doi:10.1097/CCO.0000000000000223. PMID 26335664.
  5. ^ Heitzer, E.; Ulz, P.; Geigl, J. B. (11 November 2014). "Circulating Tumor DNA as a Liquid Biopsy for Cancer". Clinical Chemistry. 61 (1): 112–123. doi:10.1373/clinchem.2014.222679. PMID 25388429.
  6. ^ Wan, Jonathan C. M.; Massie, Charles; Garcia-Corbacho, Javier; Mouliere, Florent; Brenton, James D.; Caldas, Carlos; Pacey, Simon; Baird, Richard; Rosenfeld, Nitzan (24 February 2017). "Liquid biopsies come of age: towards implementation of circulating tumour DNA". Nature Reviews Cancer. 17 (4): 223–238. doi:10.1038/nrc.2017.7. PMID 28233803.
  7. ^ Nascimento da Silva, Monica; Sicchieri, Letícia Bonfante; Rodrigues de Oliveira Silva, Flávia; Andrade, Maira Franco; Courrol, Lilia Coronato (2014). "Liquid biopsy of atherosclerosis using protoporphyrin IX as a biomarker". The Analyst. 139 (6): 1383–8. Bibcode:2014Ana...139.1383N. doi:10.1039/c3an01945d. PMID 24432352.
  8. ^ Pyykkö, Okko T.; Lumela, Miikka; Rummukainen, Jaana; Nerg, Ossi; Seppälä, Toni T.; Herukka, Sanna-Kaisa; Koivisto, Anne M.; Alafuzoff, Irina; Puli, Lakshman; Savolainen, Sakari; Soininen, Hilkka; Jääskeläinen, Juha E.; Hiltunen, Mikko; Zetterberg, Henrik; Leinonen, Ville; Fiandaca, Massimo S. (17 March 2014). "Cerebrospinal Fluid Biomarker and Brain Biopsy Findings in Idiopathic Normal Pressure Hydrocephalus". PLoS ONE. 9 (3): e91974. Bibcode:2014PLoSO...991974P. doi:10.1371/journal.pone.0091974. PMC 3956805. PMID 24638077.
  9. ^ Mouliere F, Mair R, Chandrananda D, Marass F, Smith CG, Su J, Morris J, Watts C, Brindle KM, Rosenfeld N (2018). "Detection of cell-free DNA fragmentation and copy number alterations in cerebrospinal fluid from glioma patients". EMBO Mol Med. 10 (12): e9323. doi:10.15252/emmm.201809323. PMC 6284385. PMID 30401727.CS1 maint: multiple names: authors list (link)
  10. ^ "What is circulating tumor DNA and how is it used to diagnose and manage cancer? ". National Institutes of Health Genetics Home Reference. 5 March 2019. Retrieved 12 March 2019.
  11. ^ "Liquid Biopsies Show High Correlation with Tissue Biopsy for Genetic Mutations". Oncology Practice Management. July 2016. Retrieved 12 March 2019.
  12. ^ Picher, Andy."Liquid Biopsy, Key for Precision Medicine". Genetic Engineering & Biotechnology News. 23 July 2018. Retrieved 12 March 2019.
  13. ^ "Liquid Biopsy: Differences Among Technologies". OncLive. 17 September 2017. Retrieved 12 March 2019.
  14. ^ Ellis, Jen."dPCR: The Emergence of the Digital Age". Biocompare. 7 May 2018. Retrieved 12 March 2019.
  15. ^ van der Pol Y, Mouliere F (2019). "Toward the early detection of cancer by decoding the epigenetic and environmental fingerprints of cell-free DNA". Cancer Cell. 36 (4): 350–368. doi:10.1016/j.ccell.2019.09.003. PMID 31614115.
  16. ^ McDowell, Sandy."Liquid Biopsies: Past, Present, and Future". American Cancer Society. 12 February 2018. Retrieved 12 March 2019.
  17. ^ "Liquid Biopsy: Using DNA in Blood to Detect, Track, and Treat Cancer". National Cancer Institute. 8 November 2017. Retrieved 12 March 2019.
  18. ^ Olsson, Eleonor; Winter, Christof (2015). "Serial monitoring of circulating tumor DNA in patients with primary breast cancer for detection of occult metastatic disease". EMBO Molecular Medicine. 7 (8): 1034–1047. doi:10.15252/emmm.201404913. PMC 4551342. PMID 25987569.