Liquid biopsy

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][2] 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. Liquid biopsies may also be used to validate the efficiency of a cancer treatment drug by taking multiple samples in the span of a few weeks. The technology may also prove beneficial for patients after treatment to monitor relapse.[3]

The clinical implementation of liquid biopsies is not yet widespread but is becoming standard of care in some areas.[4]

Types

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

Disease Tissue sampled Sampling procedure Invasiveness Substance isolated Isolation and detection method Analysis Refs
Cancer (various)BloodPhlebotomyMinimally invasiveCirculating tumor cells (CTCs)Various (e.g. CellSearch, RosetteStep, Dynabeads)Flow cytometry, nucleic acid extraction, immunocytochemistry, functional assays[5][6][7]
Cancer (various)BloodPhlebotomyMinimally invasiveCirculating tumor DNA (ctDNA)DNA extractionNext-generation sequencing[8][9][10]
Urothelial carcinomaUrineUrine collectionNon-invasiveUrinary tumor DNA (utDNA)DNA extractionNext-generation sequencing[11]
Non-urological cancersUrineUrine collectionNon-invasiveUrine proteins, metabolitesHPLC-MSProteomics, metabolomics[12][13]
Heart attackBloodPhlebotomyMinimally invasiveCirculating endothelial cells (CECs)Various (e.g. CellSearch, HD-CEC)Flow cytometry[14]
Neurological diseasesCerebrospinal fluidLumbar punctureInvasiveCSF proteins, nucleid acidsVariousELISA, multiplex assay, next-generation sequencing[15][16]
Prenatal diagnosisBlood (maternal)PhlebotomyMinimally invasiveCell-free fetal DNA (cffDNA)DNA extractionKaryotyping, fluorescent in situ hybridization[17]
Prenatal diagnosisBlood (maternal)PhlebotomyMinimally invasiveFetal cells in maternal blood (FCMB)Flow cytometryKaryotyping, fluorescent in situ hybridization[18]
Prenatal diagnosisBlood (umbilical cord)CordocentesisInvasiveUmbilical blood cells and moleculesVariousKaryotyping, blood typing, blood tests, Kleihauer–Betke test, flow cytometry[19]
Prenatal diagnosisAmniotic fluidAmniocentesisInvasiveAmniotic fluid cells and moleculesVariousKaryotyping, blood typing, L/S ratio, S/A ratio[20]

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.[21] Cancer biomarkers in the blood include PSA (prostate cancer), CA19-9 (pancreatic cancer) and CA-125 (ovarian cancer).

Mechanism

Circulating tumor DNA (ctDNA) refers to DNA released by cancerous cells into the blood stream.[22][23] Cancer mutations in ctDNA mirror those found in traditional tumor biopsies, which allows them to be used as molecular biomarkers to track the disease.[24]

Scientists can purify and then analyze ctDNA using next-generation sequencing (NGS) or PCR-based methods such as digital PCR.[25] 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.[26][27] 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) .[28]

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.[29][30][31]

Clinical application

The 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.[32]

Liquid biopsy for analysis of ctDNA for EGFR-mutated lung cancer is approved by the FDA.[33]

See also

References

  1. ↑ Alix-Panabières, Catherine; Pantel, Klaus (January 2013). "Circulating tumor cells: liquid biopsy of cancer". Clinical Chemistry. 59 (1): 110–118. doi:10.1373/clinchem.2012.194258. ISSN 1530-8561. PMID 23014601.
  2. ↑ 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. S2CID 25537784.
  3. ↑ "Understanding cancer's unruly origins helps early diagnosis". The Economist. Retrieved 2017-09-29.
  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. S2CID 13339984.
  5. ↑ Peeters, D J E; De Laere, B; Van den Eynden, G G; Van Laere, S J; Rothé, F; Ignatiadis, M; Sieuwerts, A M; Lambrechts, D; Rutten, A; van Dam, P A; Pauwels, P; Peeters, M; Vermeulen, P B; Dirix, L Y (April 2013). "Semiautomated isolation and molecular characterisation of single or highly purified tumour cells from CellSearch enriched blood samples using dielectrophoretic cell sorting". British Journal of Cancer. 108 (6): 1358–1367. doi:10.1038/bjc.2013.92. PMC 3619252. PMID 23470469.
  6. ↑ Agerbæk, Mette Ø.; Bang-Christensen, Sara R.; Yang, Ming-Hsin; Clausen, Thomas M.; Pereira, Marina A.; Sharma, Shreya; Ditlev, Sisse B.; Nielsen, Morten A.; Choudhary, Swati; Gustavsson, Tobias; Sorensen, Poul H.; Meyer, Tim; Propper, David; Shamash, Jonathan; Theander, Thor G.; Aicher, Alexandra; Daugaard, Mads; Heeschen, Christopher; Salanti, Ali (December 2018). "The VAR2CSA malaria protein efficiently retrieves circulating tumor cells in an EpCAM-independent manner". Nature Communications. 9 (1): 3279. Bibcode:2018NatCo...9.3279A. doi:10.1038/s41467-018-05793-2. PMC 6095877. PMID 30115931.
  7. ↑ Thiele, Jana- A.; Pitule, Pavel; Hicks, James; Kuhn, Peter (2019). Single-Cell Analysis of Circulating Tumor Cells. Tumor Profiling. Methods in Molecular Biology. Vol. 1908. pp. 243–264. doi:10.1007/978-1-4939-9004-7_17. ISBN 978-1-4939-9002-3. PMC 7679177. PMID 30649733.
  8. ↑ 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.
  9. ↑ 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. S2CID 4561229.
  10. ↑ Avanzini S, Kurtz DM, Chabon JJ, Moding EJ, Hori SS, Gambhir SS, Alizadeh AA, Diehn M, Reiter JG (December 2020). "A mathematical model of ctDNA shedding predicts tumor detection size". Science Advances. 6 (50): eabc4308. Bibcode:2020SciA....6.4308A. doi:10.1126/sciadv.abc4308. PMC 7732186. PMID 33310847. S2CID 228096858.
  11. ↑ Chaudhuri, Aadel A.; Pellini, Bruna; Pejovic, Nadja; Chauhan, Pradeep S.; Harris, Peter K.; Szymanski, Jeffrey J.; Smith, Zachary L.; Arora, Vivek K. (November 2020). "Emerging Roles of Urine-Based Tumor DNA Analysis in Bladder Cancer Management". JCO Precision Oncology. 4 (4): 806–817. doi:10.1200/PO.20.00060. PMC 7448529. PMID 32923907.
  12. ↑ Ward, DG; Nyangoma, S; Joy, H; Hamilton, E; Wei, W; Tselepis, C; Steven, N; Wakelam, MJ; Johnson, PJ; Ismail, T; Martin, A (16 June 2008). "Proteomic profiling of urine for the detection of colon cancer". Proteome Science. 6: 19. doi:10.1186/1477-5956-6-19. PMC 2440369. PMID 18558005.
  13. ↑ Arasaradnam, RP; Wicaksono, A; O'Brien, H; Kocher, HM; Covington, JA; Crnogorac-Jurcevic, T (February 2018). "Noninvasive Diagnosis of Pancreatic Cancer Through Detection of Volatile Organic Compounds in Urine". Gastroenterology. 154 (3): 485–487.e1. doi:10.1053/j.gastro.2017.09.054. PMID 29129714.
  14. ↑ Bethel, Kelly; Luttgen, Madelyn S; Damani, Samir; Kolatkar, Anand; Lamy, Rachelle; Sabouri-Ghomi, Mohsen; Topol, Sarah; Topol, Eric J; Kuhn, Peter (9 January 2014). "Fluid phase biopsy for detection and characterization of circulating endothelial cells in myocardial infarction". Physical Biology. 11 (1): 016002. Bibcode:2014PhBio..11a6002B. doi:10.1088/1478-3975/11/1/016002. PMC 4143170. PMID 24406475.
  15. ↑ 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.
  16. ↑ 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  17. ↑ Rafi, Imran; Hill, Melissa; Hayward, Judith; Chitty, Lyn S (July 2017). "Non-invasive prenatal testing: use of cell-free fetal DNA in Down syndrome screening". British Journal of General Practice. 67 (660): 298–299. doi:10.3399/bjgp17X691625. PMC 5565870. PMID 28663415.
  18. ↑ Singh, Ripudaman; Hatt, Lotte; Ravn, Katarina; Vogel, Ida; Petersen, Olav Bjørn; Uldbjerg, Niels; Schelde, Palle (September 2017). "Fetal cells in maternal blood for prenatal diagnosis: a love story rekindled". Biomarkers in Medicine. 11 (9): 705–710. doi:10.2217/bmm-2017-0055. PMID 28617034.
  19. ↑ Weiner, Carl P.; Lee, Gene T. (2017). "Cordocentesis". Operative Obstetrics. Routledge. doi:10.1201/9781315382739. ISBN 978-1-4987-2056-4.
  20. ↑ Perni, Sriram C.; Roost, John R.; Chervenak, Frank A. (2017). "Amniocentesis". Operative Obstetrics. Routledge. doi:10.1201/9781315382739. ISBN 978-1-4987-2056-4.
  21. ↑ 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.
  22. ↑ "What is circulating tumor DNA and how is it used to diagnose and manage cancer?: MedlinePlus Genetics". medlineplus.gov. Retrieved 2021-09-03.
  23. ↑ "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.
  24. ↑ "Liquid Biopsies Show High Correlation with Tissue Biopsy for Genetic Mutations". Oncology Practice Management. July 2016. Retrieved 12 March 2019.
  25. ↑ Picher, Andy."Liquid Biopsy, Key for Precision Medicine". Genetic Engineering & Biotechnology News. 23 July 2018. Retrieved 12 March 2019.
  26. ↑ "Liquid Biopsy: Differences Among Technologies". OncLive. 17 September 2017. Retrieved 12 March 2019.
  27. ↑ Ellis, Jen."dPCR: The Emergence of the Digital Age". Biocompare. 7 May 2018. Retrieved 12 March 2019.
  28. ↑ 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.
  29. ↑ McDowell, Sandy."Liquid Biopsies: Past, Present, and Future". American Cancer Society. 12 February 2018. Retrieved 12 March 2019.
  30. ↑ "Liquid Biopsy: Using DNA in Blood to Detect, Track, and Treat Cancer". National Cancer Institute. 8 November 2017. Retrieved 12 March 2019.
  31. ↑ 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.
  32. ↑ 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.
  33. ↑ Kwapisz, Dorota (February 2017). "The first liquid biopsy test approved. Is it a new era of mutation testing for non-small cell lung cancer?". Annals of Translational Medicine. 5 (3): 46. doi:10.21037/atm.2017.01.32. ISSN 2305-5839. PMC 5326656. PMID 28251125.
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