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06.08.2019 | Preclinical study

Detection of breast cancer stem cell gene mutations in circulating free DNA during the evolution of metastases

verfasst von: Zhe-Bin Liu, Nader E. Ezzedine, Agda K. Eterovic, Joe E. Ensor, Helen J. Huang, Joan Albanell, Dong S. Choi, Ana Lluch, Yi Liu, Federico Rojo, Helen Wong, Eduardo Martínez-Dueñas, Ángel Guerrero-Zotano, Zhi-Min Shao, Jorge G. Darcourt, Gordon B. Mills, Bhuvanesh Dave, Jenny C. Chang

Erschienen in: Breast Cancer Research and Treatment | Ausgabe 2/2019

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Abstract

Purpose

Limited knowledge exists on the detection of breast cancer stem cell (BCSC)-related mutations in circulating free DNA (cfDNA) from patients with advanced cancers. Identification of new cancer biomarkers may allow for earlier detection of disease progression and treatment strategy modifications.

Methods

We conducted a prospective study to determine the feasibility and prognostic utility of droplet digital polymerase chain reaction (ddPCR)-based BCSC gene mutation analysis of cfDNA in patients with breast cancer.

Results

Detection of quantitative BCSC gene mutation in cfDNA by ddPCR mirrors disease progression and thus may represent a valuable and cost-effective measure of tumor burden. We have previously shown that hematological and neurological expressed 1-like (HN1L), ribosomal protein L39 (RPL39), and myeloid leukemia factor 2 (MLF2) are novel targets for BCSC self-renewal, and targeting these genetic alterations could be useful for personalized genomic-based therapy.

Conclusion

BCSC mutation detection in cfDNA may have important implications for diagnosis, prognosis, and serial monitoring.

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Dawson SJ, Tsui DW, Murtaza M, Biggs H, Rueda OM, Chin SF, Dunning MJ, Gale D, Forshew T, Mahler-Araujo B, Rajan S, Humphray S, Becq J, Halsall D, Wallis M, Bentley D, Caldas C, Rosenfeld N (2013) Analysis of circulating tumor DNA to monitor metastatic breast cancer. N Engl J Med 368(13):1199–1209. https://doi.org/10.1056/NEJMoa1213261 CrossRefPubMed

Smalley M, Ashworth A (2003) Stem cells and breast cancer: a field in transit. Nat Rev Cancer 3(11):832–844. https://doi.org/10.1038/nrc1212 CrossRefPubMed

Li X, Lewis MT, Huang J, Gutierrez C, Osborne CK, Wu MF, Hilsenbeck SG, Pavlick A, Zhang X, Chamness GC, Wong H, Rosen J, Chang JC (2008) Intrinsic resistance of tumorigenic breast cancer cells to chemotherapy. J Natl Cancer Inst 100(9):672–679CrossRefPubMed

Creighton CJ, Li X, Landis M, Dixon JM, Neumeister VM, Sjolund A, Rimm DL, Wong H, Rodriguez A, Herschkowitz JI, Fan C, Zhang X, He X, Pavlick A, Gutierrez MC, Renshaw L, Larionov AA, Faratian D, Hilsenbeck SG, Perou CM, Lewis MT, Rosen JM, Chang JC (2009) Residual breast cancers after conventional therapy display mesenchymal as well as tumor-initiating features. Proc Natl Acad Sci 106(33):13820–13825. https://doi.org/10.1073/pnas.0905718106 CrossRefPubMedPubMedCentral

Luo M, Clouthier SG, Deol Y, Liu S, Nagrath S, Azizi E, Wicha MS (2015) Breast cancer stem cells: current advances and clinical implications. Methods Mol Biol 1293:1–49. https://doi.org/10.1007/978-1-4939-2519-3_1 CrossRefPubMed

Dave B, Granados-Principal S, Zhu R, Benz S, Rabizadeh S, Soon-Shiong P, Yu KD, Shao Z, Li X, Gilcrease M, Lai Z, Chen Y, Huang TH, Shen H, Liu X, Ferrari M, Zhan M, Wong ST, Kumaraswami M, Mittal V, Chen X, Gross SS, Chang JC (2014) Targeting RPL39 and MLF2 reduces tumor initiation and metastasis in breast cancer by inhibiting nitric oxide synthase signaling. Proc Natl Acad Sci USA 111(24):8838–8843. https://doi.org/10.1073/pnas.1320769111 CrossRefPubMedPubMedCentral

Liu Y, Choi DS, Sheng J, Ensor JE, Liang DH, Rodriguez-Aguayo C, Polley A, Benz S, Elemento O, Verma A, Cong Y, Wong H, Qian W, Li Z, Granados-Principal S, Lopez-Berestein G, Landis MD, Rosato RR, Dave B, Wong S, Marchetti D, Sood AK, Chang JC (2018) HN1L promotes triple-negative breast cancer stem cells through LEPR-STAT3 pathway. Stem cell Rep 10(1):212–227. https://doi.org/10.1016/j.stemcr.2017.11.010 CrossRef

Dave B, Gonzalez DD, Liu ZB, Li X, Wong H, Granados S, Ezzedine NE, Sieglaff DH, Ensor JE, Miller KD, Radovich M, KarinaEtrovic A, Gross SS, Elemento O, Mills GB, Gilcrease MZ, Chang JC (2017) Role of RPL39 in Metaplastic Breast Cancer. J Natl Cancer Inst. https://doi.org/10.1093/jnci/djw292 CrossRefPubMedPubMedCentral

Robinson DR, Wu YM, Lonigro RJ, Vats P, Cobain E, Everett J, Cao X, Rabban E, Kumar-Sinha C, Raymond V, Schuetze S, Alva A, Siddiqui J, Chugh R, Worden F, Zalupski MM, Innis J, Mody RJ, Tomlins SA, Lucas D, Baker LH, Ramnath N, Schott AF, Hayes DF, Vijai J, Offit K, Stoffel EM, Roberts JS, Smith DC, Kunju LP, Talpaz M, Cieslik M, Chinnaiyan AM (2017) Integrative clinical genomics of metastatic cancer. Nature 548(7667):297–303. https://doi.org/10.1038/nature23306 CrossRefPubMedPubMedCentral

10.

Schwarzenbach H, Hoon DS, Pantel K (2011) Cell-free nucleic acids as biomarkers in cancer patients. Nat Rev Cancer 11(6):426–437. https://doi.org/10.1038/nrc3066 CrossRefPubMed

11.

Murtaza M, Dawson SJ, Tsui DW, Gale D, Forshew T, Piskorz AM, Parkinson C, Chin SF, Kingsbury Z, Wong AS, Marass F, Humphray S, Hadfield J, Bentley D, Chin TM, Brenton JD, Caldas C, Rosenfeld N (2013) Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA. Nature 497(7447):108–112. https://doi.org/10.1038/nature12065 CrossRefPubMed

12.

Kimura H, Kasahara K, Kawaishi M, Kunitoh H, Tamura T, Holloway B, Nishio K (2006) Detection of epidermal growth factor receptor mutations in serum as a predictor of the response to gefitinib in patients with non-small-cell lung cancer. Clin Cancer Res 12(13):3915–3921. https://doi.org/10.1158/1078-0432.CCR-05-2324 CrossRefPubMed

13.

Sorenson GD (2000) Detection of mutated KRAS2 sequences as tumor markers in plasma/serum of patients with gastrointestinal cancer. Clin Cancer Res 6(6):2129–2137PubMed

14.

Diehl F, Li M, Dressman D, He Y, Shen D, Szabo S, Diaz LA Jr, Goodman SN, David KA, Juhl H, Kinzler KW, Vogelstein B (2005) Detection and quantification of mutations in the plasma of patients with colorectal tumors. Proc Natl Acad Sci USA 102(45):16368–16373. https://doi.org/10.1073/pnas.0507904102 CrossRefPubMedPubMedCentral

15.

Hindson CM, Chevillet JR, Briggs HA, Gallichotte EN, Ruf IK, Hindson BJ, Vessella RL, Tewari M (2013) Absolute quantification by droplet digital PCR versus analog real-time PCR. Nat Methods 10(10):1003–1005. https://doi.org/10.1038/nmeth.2633 CrossRefPubMedPubMedCentral

16.

Sanmamed MF, Fernandez-Landazuri S, Rodriguez C, Zarate R, Lozano MD, Zubiri L, Perez-Gracia JL, Martin-Algarra S, Gonzalez A (2015) Quantitative cell-free circulating BRAFV600E mutation analysis by use of droplet digital PCR in the follow-up of patients with melanoma being treated with BRAF inhibitors. Clin Chem 61(1):297–304. https://doi.org/10.1373/clinchem.2014.230235 CrossRefPubMed

17.

Chu D, Paoletti C, Gersch C, VanDenBerg DA, Zabransky DJ, Cochran RL, Wong HY, Toro PV, Cidado J, Croessmann S, Erlanger B, Cravero K, Kyker-Snowman K, Button B, Parsons HA, Dalton WB, Gillani R, Medford A, Aung K, Tokudome N, Chinnaiyan AM, Schott A, Robinson D, Jacks KS, Lauring J, Hurley PJ, Hayes DF, Rae JM, Park BH (2016) ESR1 mutations in circulating plasma tumor DNA from metastatic breast cancer patients. Clin Cancer Res 22(4):993–999. https://doi.org/10.1158/1078-0432.CCR-15-0943 CrossRefPubMed

18.

Garcia-Murillas I, Schiavon G, Weigelt B, Ng C, Hrebien S, Cutts RJ, Cheang M, Osin P, Nerurkar A, Kozarewa I, Garrido JA, Dowsett M, Reis-Filho JS, Smith IE, Turner NC (2015) Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer. Science translational medicine 7(302):302ra133. https://doi.org/10.1126/scitranslmed.aab0021 CrossRefPubMed

19.

Gerlinger M, Rowan AJ, Horswell S, Larkin J, Endesfelder D, Gronroos E, Martinez P, Matthews N, Stewart A, Tarpey P, Varela I, Phillimore B, Begum S, McDonald NQ, Butler A, Jones D, Raine K, Latimer C, Santos CR, Nohadani M, Eklund AC, Spencer-Dene B, Clark G, Pickering L, Stamp G, Gore M, Szallasi Z, Downward J, Futreal PA, Swanton C (2012) Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med 366(10):883–892. https://doi.org/10.1056/NEJMoa1113205 CrossRefPubMedPubMedCentral

20.

McShane LM, Altman DG, Sauerbrei W, Taube SE, Gion M, Clark GM, Statistics Subcommittee of NCIEWGoCD (2006) REporting recommendations for tumor MARKer prognostic studies (REMARK). Breast Cancer Res Treat 100(2):229–235. https://doi.org/10.1007/s10549-006-9242-8 CrossRefPubMed

Titel: Detection of breast cancer stem cell gene mutations in circulating free DNA during the evolution of metastases
verfasst von: Zhe-Bin Liu
Nader E. Ezzedine
Agda K. Eterovic
Joe E. Ensor
Helen J. Huang
Joan Albanell
Dong S. Choi
Ana Lluch
Yi Liu
Federico Rojo
Helen Wong
Eduardo Martínez-Dueñas
Ángel Guerrero-Zotano
Zhi-Min Shao
Jorge G. Darcourt
Gordon B. Mills
Bhuvanesh Dave
Jenny C. Chang
Publikationsdatum: 06.08.2019
Verlag: Springer US
Erschienen in: Breast Cancer Research and Treatment / Ausgabe 2/2019
Print ISSN: 0167-6806
Elektronische ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-019-05374-x

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Springer Medizin

Detection of breast cancer stem cell gene mutations in circulating free DNA during the evolution of metastases

Abstract

Purpose

Methods

Results

Conclusion

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Springer Medizin

Abstract

Purpose

Methods

Results

Conclusion

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