Utility of Circulating Tumor DNA in Different Clinical Scenarios of Breast Cancer
Abstract
:Simple Summary
Abstract
1. Introduction
2. ctDNA—The Concept
3. ctDNA—Clinical Application in Breast Cancer
3.1. Early Diagnosis and Relapse
3.2. Metastatic Disease
3.3. Locally Advanced Breast Cancer: Detecting Residual Minimal Disease
4. Conclusions
Author Contributions
Funding
Conflicts of Interest
References
- Ferlay, J.; Soerjomataram, I.; Dikshit, R.; Eser, S.; Mathers, C.; Rebelo, M.; Parkin, D.M.; Forman, D.; Bray, F. Cancer incidence and mortality worldwide: Sources, methods and major patterns in GLOBOCAN 2012. Int. J. Cancer 2015, 136, E359–E386. [Google Scholar] [CrossRef] [PubMed]
- Senkus, E.; Kyriakides, S.; Ohno, S.; Penault-Llorca, F.; Poortmans, P.; Rutgers, E.; Zackrisson, S.; Cardoso, F. Primary breast cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann. Oncol. 2013, 6, vi7–vi23. [Google Scholar] [CrossRef] [PubMed]
- Cheng, F.; Su, L.; Qian, C. Circulating tumor DNA: A promising biomarker in the liquid biopsy of cancer. Oncotarget 2016, 7, 48832–48841. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Heitzer, E.; Ulz, P.; Geigl, J.B. Circulating tumor DNA as a liquid biopsy for cancer. Clin. Chem. 2015, 61, 112–123. [Google Scholar] [CrossRef]
- Murtaza, M.; Dawson, S.-J.; Tsui, D.W.Y.; Gale, D.; Forshew, T.; Piskorz, A.M.; Parkinson, C.; Chin, S.-F.; Kingsbury, Z.; Wong, A.S.C.; et al. Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA. Nature 2013, 497, 108–112. [Google Scholar] [CrossRef]
- Arruda, L.; Caldas, C. Cell free circulating tumor DNA as a liquid biopsy in breast cancer. Mol. Oncol. 2016, 10, 464–474. [Google Scholar] [CrossRef]
- Mayo-de-Las-Casas, C.; Jordana-Ariza, N.; Garzón-Ibañez, M.; Balada-Bel, A.; Bertrán-Alamillo, J.; Viteri-Ramírez, S.; Reguart, N.; Muñoz-Quintana, M.A.; Lianes-Barragan, P.; Camps, C.; et al. Large scale, prospective screening of EGFR mutations in the blood of advanced NSCLC patients to guide treatment decisions. Ann. Oncol. 2017, 28, 2248–2255. [Google Scholar] [CrossRef]
- Bi, F.; Wang, Q.; Wang, Y.; Zhang, L.; Zhang, J. Circulating tumor DNA in colorectal cancer: Opportunities and challenges. Am. J. Transl. Res. 2020, 12, 1044–1055. [Google Scholar]
- Cardoso, F.; Kyriakides, S.; Ohno, S.; Penault-Llorca, F.; Poortmans, P.; Rubio, I.; Zackrisson, S.; Senkus, E. Early breast cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann. Oncol. 2019, 30, 1194–1220. [Google Scholar] [CrossRef] [Green Version]
- Dawson, S.-J.; Rueda, O.M.; Aparicio, S.; Caldas, C. A new genome-driven integrated classification of breast cancer and its implications. EMBO J. 2013, 32, 617–628. [Google Scholar] [CrossRef] [Green Version]
- Mandel, P.; Metais, P. Les acides nucléiques du plasma sanguin chez l’homme. CR Seances Soc. Biol. Fil. 1948, 142, 241–243. [Google Scholar]
- Leon, S.; Shapiro, B.; Sklaroff, D.M.; Yaros, M.J. Free DNA in the serum of cancer patients and the effect of therapy. Cancer Res. 1977, 37, 646–650. [Google Scholar] [PubMed]
- Alimirzaie, S.; Bagherzadeh, M.; Akbari, M.R. Liquid biopsy in breast cancer: A comprehensive review. Clin. Genet. 2019, 95, 643–660. [Google Scholar] [CrossRef]
- Diehl, F.; Schmidt, K.; Choti, M.A.; Romans, K.; Goodman, S.; Li, M.; Kinzler, K.W. Circulating mutant DNA to assess tumor dynamics. Nat. Med. 2008, 14, 985–990. [Google Scholar] [CrossRef] [PubMed]
- Kidess, E.; Jeffrey, S.S. Circulating tumor cells versus tumor-derived cell-free DNA: Rivals or partners in cancer care in the era of single-cell analysis? Genom. Med. 2013, 5, 70. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Diaz, L.A., Jr.; Bardelli, A. Liquid biopsies: Genotyping circulating tumor DNA. J. Clin. Oncol. 2014, 32, 579–586. [Google Scholar] [CrossRef]
- Marques, J.; Junqueira-Neto, S.; Pinheiro, J.A.; Machado, J.C.; Costa, J.L. Induction of apoptosis increases sensitivity to detect cancer mutations in plasma. Eur. J. Cancer 2020, 127, 130–138. [Google Scholar] [CrossRef] [Green Version]
- Nawroz-Danish, H.; Eisenberger, C.F.; Yoo, G.; Wu, L.; Koch, W.; Black, C.; Ensley, J.F.; Wei, W.-Z.; Sidransky, D. Microsatellite analysis of serum DNA in patients with head and neck cancer. Int. J. Cancer 2004, 111, 96–100. [Google Scholar] [CrossRef]
- Lee, J.; Cho, S.-M.; Kim, M.S.; Lee, S.H.; Chung, Y.-J.; Jung, S.-H. Circulating tumor DNA in a breast cancer patient’s plasma represents driver alterations in the tumor tissue. Genomics Inform. 2017, 15, 48–50. [Google Scholar] [CrossRef]
- Ma, M.; Zhu, H.; Zhang, C.; Sun, X.; Gao, X.-S.; Chen, G. “Liquid biopsy”—ctDNA detection with great potential and challenges. Ann. Transl. Med. 2015, 3, 235. [Google Scholar]
- Keller, L.; Belloum, Y.; Wikman, H.; Pantel, K. Clinical relevance of blood-based ctDNA analysis: Mutation detection and beyond. Br. J. Cancer 2020. [Google Scholar] [CrossRef] [PubMed]
- Sands, J.; Li, Q.; Hornberger, J. Urine circulating-tumor DNA (ctDNA) detection of acquired EGFR T790M mutation in non-small-cell lung cancer: An outcomes and total cost-of-care analysis. Lung Cancer 2017, 110, 19–25. [Google Scholar] [CrossRef] [PubMed]
- De Mattos-Arruda, L.; Mayor, R.; Ng, C.K.Y.; Weigelt, B.; Martínez-Ricarte, F.; Torrejon, D.; Oliveira, M.; Arias, A.; Raventos, C.; Tang, J.; et al. Cerebrospinal fluid derived circulating tumor DNA better represents the genomic alterations of brain tumors than plasma. Nat. Commun. 2015, 6, 8839. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Aro, K.; Wei, F.; Wong, D.T.; Tu, M. Saliva liquid biopsy for point-of-care applications. Front. Public Heal. 2017, 5, 77. [Google Scholar] [CrossRef] [Green Version]
- Kaisaki, P.J.; Cutts, A.; Popitsch, N.; Herrero, C.C.; Pentony, M.M.; Wilson, G.; Page, S.; Kaur, K.; Vavoulis, D.; Henderson, S.; et al. Targeted next-generation sequencing of plasma DNA from cancer patients: Factors influencing consistency with tumor DNA and prospective investigation of its utility for diagnosis. PLoS ONE 2016, 11, e0162809. [Google Scholar] [CrossRef]
- Chae, Y.K.; Davis, A.A.; Jain, S.; Santa-Maria, C.; Flaum, L.; Beaubier, N.; Platanias, L.C.; Gradishar, W.; Giles, F.J. Concordance of genomic alterations by next-generation sequencing in tumor tissue versus circulating tumor DNA in breast cancer. Mol. Cancer Ther. 2017, 16, 1412–1420. [Google Scholar] [CrossRef] [Green Version]
- Esposito, A.; Criscitiello, C.; Locatelli, M.; Milano, M.; Curigliano, G. Liquid biopsies for solid tumors: Understanding tumor heterogeneity and real time monitoring of early resistance to targeted therapies. Pharmacol. Ther. 2016, 157, 120–124. [Google Scholar] [CrossRef]
- Chen, M.; Zhao, H. Next-generation sequencing in liquid biopsy: Cancer screening and early detection. Hum. Genomics 2019, 13, 19. [Google Scholar] [CrossRef] [Green Version]
- Barbitoff, Y.A.; Polev, D.E.; Glotov, A.S.; Serebryakova, E.A.; Shcherbakova, I.V.; Kiselev, A.M.; Kostareva, A.A.; Glotov, O.S.; Predeus, A.V. Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage. Nat. Sci. Rep. 2020, 10, 2057. [Google Scholar] [CrossRef] [Green Version]
- Lim, M.; Kim, C.J.; Sunkara, V.; Kim, M.-H.; Cho, Y.-K. Liquid Biopsy in Lung Cancer: Clinical Applications of Circulating Biomarkers (CTCs and ctDNA). Micromachines 2018, 9, 100. [Google Scholar] [CrossRef] [Green Version]
- Spence, T.; Perera, S.; Weiss, J.; Grenier, S.; Ranich, L.; Shepherd, F.; Stockley, T.L. Clinical implementation of circulating tumour DNA testing for EGFR T790M for detection of treatment resistance in non-small cell lung cancer. J. Clin. Pathol. 2020, 1–7. [Google Scholar] [CrossRef]
- Pérez-Callejo, D.; Romero, A.; Provencio, M.; Torrente, M. Liquid biopsy based biomarkers in non-small cell lung cancer for diagnosis and treatment monitoring. Transl. Lung Cancer Res. 2016, 5, 455–465. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Parikh, A.R.; Leshchiner, I.; Elagina, L.; Goyal, L.; Levovitz, C.; Siravegna, G.; Livitz, D.; Rhrissorrakrai, K.; Martin, E.E.; Van Seventer, E.E.; et al. Liquid versus tissue biopsy for detecting acquired resistance and tumor heterogeneity in gastrointestinal cancers. Nat. Med. 2019, 25, 1415–1421. [Google Scholar] [CrossRef] [PubMed]
- De Mattos-Arruda, L.; Cortes, J.; Santarpia, L.; Vivancos, A.; Tabernero, J.; Reis-Filho, J.S.; Seoane, J. Circulating tumor cells and cell-free DNA as tools for managing breast cancer. Nat. Rev. Clin. Oncol. 2013, 10, 377–389. [Google Scholar] [CrossRef] [PubMed]
- Diaz, L.A., Jr.; Williams, R.T.; Wu, J.; Kinde, I.; Hecht, J.R.; Berlin, J.; Allen, B.; Bozic, I.; Reiter, J.G.; Nowak, M.A.; et al. The molecular evolution of acquired resistance to targeted EGFR blockade in colorectal cancers. Nature 2012, 486, 537–540. [Google Scholar] [CrossRef] [Green Version]
- Sung, J.S.; Chong, H.Y.; Kwon, N.-J.; Kim, H.M.; Lee, J.W.; Kim, B.; Lee, S.B.; Park, C.W.; Choi, J.Y.; Chang, W.J.; et al. Detection of somatic variants and EGFR mutations in cell-free DNA from non-small cell lung cancer patients by ultra-deep sequencing using the ion ampliseq cancer hotspot panel and droplet digital polymerase chain reaction. Oncotarget 2017, 8, 106901. [Google Scholar] [CrossRef] [Green Version]
- Takeshita, T.; Yamamoto, Y.; Yamamoto-Ibusuki, M.; Tomiguchi, M.; Sueta, A.; Murakami, K.; Omoto, Y.; Iwase, H. Comparison of ESR1 Mutations in Tumor Tissue and Matched Plasma Samples from Metastatic Breast Cancer Patients. Transl. Oncol. 2017, 10, 766–771. [Google Scholar] [CrossRef]
- Woodhouse, R.; Li, M.; Hughes, J.; Delfosse, D.; Skoletsky, J.; Ma, P.; Meng, W.; Dewal, N.; Milbury, C.; Clark, T.; et al. Clinical and analytical validation of FoundationOne®Liquid CDx assay a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin. PLoS ONE 2020, 15, e0237802. [Google Scholar] [CrossRef]
- Leighl, N.B.; Page, R.D.; Raymond, V.M.; Daniel, D.B.; Divers, S.G.; Reckamp, K.L.; Villalona-Calero, M.A.; Dix, D.; Odegaard, J.I.; Lanman, R.B.; et al. Clinical utility of comprehensive cell free DNAanalyses to identify genomic biomarkers I patients with newly diagnosed metastatic non-small cell lung cancers. Clin. Cancer Res. 2019, 25, 4691–4700. [Google Scholar] [CrossRef] [Green Version]
- US. Food and Drug Administration (FDA). Available online: www.fda.gov (accessed on 10 October 2020).
- Mazzucchelli, R.; Colanzi, P.; Pomante, R.; Muzzonigro, G.; Montironi, R. Prostate tissue and serum markers. Adv. Clin. Pathol. Off. J. Adriat. Soc. Pathol. 2000, 4, 111–120. [Google Scholar]
- Coombes, R.C.; Page, K.; Salari, R.; Hastings, R.K.; Armstrong, A.C.; Ahmed, S.; Ali, S.; Cleator, S.J.; Kenny, L.M.; Stebbing, J.; et al. Personalized detection of circulating tumor DNA antedates breast cancer metastatic recurrence. Clin. Cancer Res. 2019, 25, 4255–4263. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Cohen, J.D.; Li, L.; Wang, Y.; Thoburn, C.; Afsari, B.; Danilova, L.; Douville, C.; Javed, A.A.; Wong, F.; Mattox, A.; et al. Detection and localization of surgically resectable cancers with a multi-analyte blood test. Science 2018, 359, 926–930. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Chen, K.-Z.; Lou, F.; Yang, F.; Zhang, J.-B.; Ye, H.; Chen, W.; Guan, T.; Zhao, M.-Y.; Su, X.-X.; Shi, R.; et al. Circulating tumor DNA detection in early-stage non-small cell lung cancer patients by targeted sequencing. Sci. Rep. 2016, 6, 31985. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Board, R.E.; Wardley, A.M.; Dixon, J.M.; Armstrong, A.C.; Howell, S.; Renshaw, L.; Donald, E.; Greystoke, A.; Ranson, M.; Hughes, A.; et al. Detection of PIK3CA mutations in circulating free DNA in patients with breast cancer. Breast Cancer Res. Treat. 2010, 120, 461–467. [Google Scholar] [CrossRef]
- Phallen, J.; Sausen, M.; Adleff, V.; Leal, A.; Hruban, C.; White, J.; Anagnostou, V.; Fiksel, J.; Cristiano, S.; Papp, E.; et al. Direct detection of early-stage cancers using circulating tumor DNA. Sci. Transl. Med. 2017, 9, 403. [Google Scholar] [CrossRef] [Green Version]
- Beaver, J.A.; Jelovac, D.; Balukrishna, S.; Cochran, R.L.; Croessmann, S.; Zabransky, D.J.; Wong, H.Y.; Toro, P.V.; Cidado, J.; Blair, B.G.; et al. Detection of cancer DNA in plasma of early stage breast cancer patients. Clin. Cancer Res. 2014, 20, 2643–2650. [Google Scholar] [CrossRef] [Green Version]
- Garcia-Murillas, I.; Chopra, N.; Comino-Méndez, I.; Beaney, M.; Tovey, H.; Cutts, R.J.; Swift, C.; Kriplani, D.; Afentakis, M.; Hrebien, S.; et al. Assessment of Molecular Relapse Detection in Early-Stage Breast Cancer. JAMA Oncol. 2019, 5, 1473–1478. [Google Scholar] [CrossRef]
- Kim, C.; Tang, G.; Pogue-Geile, K.L.; Costantino, J.P.; Baehner, F.L.; Baker, J.; Cronin, M.T.; Watson, D.; Shak, S.; Bohn, O.L.; et al. Estrogen receptor (ESR1) mRNA expression and benefit from tamoxifen in the treatment and prevention of estrogen receptor-positive breast cancer. J. Clin. Oncol. 2011, 29, 4160. [Google Scholar] [CrossRef] [Green Version]
- Schiavon, G.; Hrebien, S.; Garcia-Murillas, I.; Cutts, R.J.; Pearson, A.; Tarazona, N.; Fenwick, K.; Kozarewa, I.; Lopez-Knowles, E.; Ribas, R.; et al. Analysis of ESR1 mutation in circulating tumor DNA demonstrates evolution during therapy for metastatic breast cancer. Sci. Transl. Med. 2015, 7, 313ra182. [Google Scholar] [CrossRef] [Green Version]
- Liu, M.C.; Oxnard, G.R.; Klein, E.A.; Swanton, C.; Seiden, M.V.; Liu, M.C. On behalf of the CCGA Consortium. Sensitive and specific multi-cancer detection and localization using methylation signatures in cell-free DNA. Ann. Oncol. 2020, 31, 6. [Google Scholar] [CrossRef]
- Duffy, M.J.; Evoy, D.; McDermott, E.W. CA 15-3: Uses and limitation as a biomarker for breast cancer. Clin. Chim. Acta 2010, 411, 1869–1874. [Google Scholar] [CrossRef] [PubMed]
- Lee, Y.; Park, S.; Kim, W.S.; Lee, J.C.; Jang, S.J.; Choi, J.; Choi, C. Correlation between progression-free survival, tumor burden, and circulating tumor DNA in the initial diagnosis of advanced-stage EGFR-mutated non-small cell lung cancer. Thorac. Cancer 2018, 9, 1104–1110. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Dawson, S.-J.; Tsui, D.W.; Murtaza, M.; Biggs, H.; Rueda, O.M.; Chin, S.-F.; Dunning, M.J.; Gale, D.; Forshew, T.; Mahler-Araujo, B.; et al. Analysis of Circulating Tumor DNA to Monitor Metastatic Breast Cancer. N. Engl. J. Med. 2013, 368, 13. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Guttery, D.S.; Page, K.; Hills, A.; Woodley, L.; Marchese, S.D.; Rghebi, B.; Hastings, R.K.; Luo, J.; Pringle, J.H.; Stebbing, J.; et al. Noninvasive detection of activating estrogen receptor 1 (ESR1) mutations in estrogen receptor-positive metastatic breast cancer. Clin. Chem. 2015, 61, 974–982. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Fribbens, C.; O’Leary, B.; Kilburn, L.; Hrebien, S.; Garcia-Murillas, I.; Beaney, M.; Cristofanilli, M.; Andre, F.; Loi, S.; Loibl, S.; et al. Plasma ERS1 mutations and treatment of estrogen receptor positive advanced breast cancer. J. Clin. Oncol. 2016, 34, 2961–2968. [Google Scholar] [CrossRef]
- Ye, Q.; Qi, F.; Bian, L.; Zhang, S.-H.; Wang, T.; Jiang, Z. Circulating-free DNA Mutation Associated with Response of Targeted Therapy in Human Epidermal Growth Factor Receptor 2-positive Metastatic Breast Cancer. Chin. Med. J. 2017, 130, 522–529. [Google Scholar] [CrossRef]
- Guan, X.; Liu, B.; Niu, Y.; Dong, X.; Zhu, X.; Li, C.; Li, L.; Yi, Z.; Sun, X.; Chen, H.; et al. Longitudinal HER2 amplification tracked in circulating tumor DNA for therapeutic effect monitoring and prognostic evaluation in patients with breast cancer. Breast 2020, 49, 261–266. [Google Scholar] [CrossRef] [Green Version]
- Fritsch, C.; Huang, A.; Chatenay-Rivauday, C.; Schnell, C.; Reddy, A.; Liu, M.; Kauffmann, A.; Guthy, D.; Erdmann, D.; De Pover, A.; et al. Characterization of the novel and specific PI3Kα inhibitor NVP-BYL719 and development of the patient stratification strategy for clinical trials. Mol. Cancer Ther. 2014, 13, 1117–1129. [Google Scholar] [CrossRef] [Green Version]
- André, F.; Ciruelos, E.; Rubovszky, G.; Campone, M.; Loibl, S.; Rugo, H.S.; Iwata, H.; Conte, P.; Mayer, I.A.; Kaufman, B.; et al. Alpelisib for PIK3CA-Mutated, Hormone Receptor–Positive Advanced Breast Cancer. N. Engl. J. Med. 2019, 380, 1929–1940. [Google Scholar] [CrossRef]
- Juric, D.; Ciruelos, E.; Rubovszky, G.; Campone, M.; Loibl, S.; Rugo, H.; Iwata, H.; Conte, P.; Mayer, I.; Kaufman, B.; et al. Abstract GS3-08: Alpelisib + fulvestrant for advanced breast cancer: Subgroup analyses from the phase III SOLAR-1 trial. Cancer Res. 2019, 79, GS3-08. [Google Scholar]
- Bryant, H.E.; Schultz, N.; Thomas, H.D.; Parker, K.M.; Flower, D.; Lopez, E.; Kyle, S.; Meuth, M.; Curtin, N.J.; Helleday, T. Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase. Nature 2005, 434, 913–917. [Google Scholar] [CrossRef] [PubMed]
- Robson, M.; Im, S.-A.; Senkus, E.; Xu, B.; Domchek, S.M.; Masuda, N.; Delaloge, S.; Li, W.; Tung, N.; Armstrong, A.; et al. Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation. N. Engl. J. Med. 2017, 377, 523–533. [Google Scholar] [CrossRef] [PubMed]
- Litton, J.; Rugo, H.S.; Ettl, J.; Hurvitz, S.A.; Goncalves, A.; Lee, K.-H.; Fehrenbacher, L.; Yerushalmi, R.; Mina, L.A.; Martin, M.; et al. Talazoparib in Patients with Advanced Breast Cancer and a Germline BRCA Mutation. N. Engl. J. Med. 2018, 379, 753–763. [Google Scholar] [CrossRef] [PubMed]
- Vidula, N.; Isakoff, S.; Niemierko, A.; Malvarosa, G.; Park, H.; Abraham, E.; Spring, L.; Peppercorn, J.; Moy, B.; Ellisen, L.; et al. Abstract PD1-13: Somatic BRCA mutation detection by circulating tumor DNA analysis in patients with metastatic breast cancer: Incidence and association with tumor genotyping results, germline BRCA mutation status, and clinical outcomes. Cancer Res. 2018, 78, PD1-13. [Google Scholar]
- Condorelli, R.; Spring, L.; O’Shaughnessy, J.; Lacroix, L.; Bailleux, C.; Scott, V.; Dubois, J.; Nagy, R.; Lanman, R.; Iafrate, A.; et al. Polyclonal RB1 mutations and acquired resistance to CDK 4/6 inhibitors in patients with metastatic breast cancer. Ann. Oncol. 2018, 29, 640–645. [Google Scholar] [CrossRef]
- Abbosh, C.; Swanton, C. Circulating tumour DNA analyses reveal novel resistance mechanisms to CDK inhibition in metastatic breast cancer. Ann. Oncol. 2018, 28, 535–537. [Google Scholar] [CrossRef]
- Turner, N.C.; Kingston, B.; Kilburn, L.S.; Kernaghan, S.; Wardley, A.M.; MacPherson, I.R.; Baird, R.D.; Roylance, R.; Stephens, P.; Oikonomidou, O.; et al. Circulating tumour DNA analysis to direct therapy in advanced breast cancer (plasmaMATCH): A multicentre, multicohort, phase 2a, platform trial. Lancet Oncol. 2020, 21, 1296–1308. [Google Scholar] [CrossRef]
- Cortazar, P.; Zhang, L.; Untch, M. Meta-analysis results from the collaborative trials in neoadjuvant breast cancer (CTNeoBC). Cancer Res. 2012, 72, S1–S11. [Google Scholar]
- Rothé, F.; Silva, M.J.; Venet, D.; Campbell, C.; Bradburry, I.; Rouas, G.; De Azambuja, E.; Maetens, M.; Fumagalli, D.; Rodrik-Outmezguine, V.; et al. Circulating tumor DNA in HER2-amplified breast cancer translational research substudy of the NeoALTTO phase III trial. Clin. Cancer Res. 2019, 25, 3581–3588. [Google Scholar] [CrossRef] [Green Version]
- McDonald, B.R.; Contente-Cuomo, T.; Sammut, S.-J.; Odenheimer-Bergman, A.; Ernst, B.; Perdigones, N.; Chin, S.-F.; Farooq, M.; Mejia, R.; Cronin, P.A.; et al. Personalized circulating tumor DNA analysis to detect residual disease after neoadjuvant therapy in breast cancer. Sci. Transl. Med. 2019, 11, eaax7392. [Google Scholar] [CrossRef]
- Riva, F.; Bidard, F.-C.; Houy, A.; Saliou, A.; Madic, J.; Rampanou, A.; Hego, C.; Milder, M.; Cottu, P.; Sablin, M.-P.; et al. Patient-Specific Circulating Tumor DNA Detection during Neoadjuvant Chemotherapy in Triple-Negative Breast Cancer. Clin. Chem. 2017, 63, 691–699. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Radovich, M.; Jiang, G.; Hancock, B.A.; Chitambar, C.; Nanda, R.; Falkson, C.; Lynce, F.C.; Gallagher, C.; Isaacs, C.; Blaya, M.; et al. Association of Circulating Tumor DNA and Circulating Tumor Cells After Neoadjuvant Chemotherapy with Disease Recurrence in Patients with Triple-Negative Breast Cancer: Preplanned Secondary Analysis of the BRE12-158 Randomized Clinical Trial. JAMA Oncol. 2020, 6, 1410–1415. [Google Scholar] [CrossRef] [PubMed]
Liquid Biopsy Assay | Clinical Application | Genes Analyzed |
---|---|---|
FoundationOne ® Liquid CDx assay | NSCLC, mCRPC | 70 genes + MSI-H (BRCA 1, 2, EGFR) |
Guardant360 ® CDx assay | NSCLC, pan-cancer | 70 genes using NGS |
Therascreen ® (Qiagen) PI3KCA | Breast cancer | 11 mutation in PIK3CA gene |
EpiproColon ® | Colorectal cancer | PCR, methylation |
Cobas ® EGFR mutation test (Roche) | NSCLC | EGFR variants |
In Vision First-Lung ® | NSCLC | 37 genes NSCLC |
Oncobeam Lung-1 ® | NSCLC | EGFR |
Oncobeam Lung-2 ® | NSCLC | EGFR, KRAS, BRAF |
Oncomine ® (Thermo Fisher Scientific) | Breast, lung, colon cancer, pan-cancer | 52 genes cancer assay |
TS0500 ctDNA ® (Illumina) | Pan-cancer | 500+ genes |
Avenio ctDNA ® (Roche) | Breast, lung, colorectal, gastric, melanoma, pancreatic, ovarian, glioma, thyroid cancers | 17 genes |
Breast Cancer Scenario | Clinical Use | Assay Used | Findings | Reference |
---|---|---|---|---|
Early-stage disease | Early detection | CancerSEEK | Detect cancers through the determination of mutations using the cfDNA. The median sensitivity of the test was 70% among the cancer types studied; 33% in breast cancer. | [43] |
Anticipating relapse | Ultra deep sequencing | ctDNA was detected before clinical or radiologic relapse in cancer patients (sensitivity of 89%). | [42] | |
dPCR analysis of ctDNA | Detection of ctDNA during follow-up is associated with high risk of relapse. | [48] | ||
Treatment resistance | dPCR analysis of ctDNA | ESR1 mutations can predict resistance to endocrine therapy in early disease. | [50] | |
Metastatic disease | Monitoring disease | dPCR analysis of ctDNA | The ctDNA levels showed a greater dynamic range, and correlation with changes in tumor burden, than CA 15-3 or circulating tumor cells in patients with breast cancer receiving therapy. | [54] |
Treatment resistance | NGS and dPCR analysis of ctDNA | ESR1 mutations can predict resistance to endocrine therapy; ESR1 mutation analysis in plasma after progression can be a useful tool to guide the clinician’s choice for subsequent endocrine therapies. | [55,56] | |
Selecting targeted therapies | dPCR analysis of ctDNA | According to the SOLAR 1 trial, alpelisib was approved in patients with PI3KCA mutation; the use of ctDNA to identify PI3KCA mutation was validated. | [60,61] | |
PLASMAmatch | ctDNA was able to identify patients with important targetable mutation. | [68] | ||
Locally advanced disease | Detecting minimal residual disease | Dropped dPCR; Targeted digital sequencing (TARDIS) | ctDNA concentrations were lower in patients who achieved pCR compared to patients with residual disease; slow decrease of ctDNA levels during NAT was associated with poorer survival. | [71,72] |
Foundation One® Liquid Assay | Detection of ctDNA in patients with early-stage triple-negative breast cancer after neoadjuvant chemotherapy was independently associated with disease recurrence. | [73] |
Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. |
© 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
Share and Cite
Mesquita, A.; Costa, J.L.; Schmitt, F. Utility of Circulating Tumor DNA in Different Clinical Scenarios of Breast Cancer. Cancers 2020, 12, 3797. https://doi.org/10.3390/cancers12123797
Mesquita A, Costa JL, Schmitt F. Utility of Circulating Tumor DNA in Different Clinical Scenarios of Breast Cancer. Cancers. 2020; 12(12):3797. https://doi.org/10.3390/cancers12123797
Chicago/Turabian StyleMesquita, Alexandra, José Luís Costa, and Fernando Schmitt. 2020. "Utility of Circulating Tumor DNA in Different Clinical Scenarios of Breast Cancer" Cancers 12, no. 12: 3797. https://doi.org/10.3390/cancers12123797