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Published in: Endocrine 2/2022

01-05-2022 | Thyroid Cancer | Research Letter

Ultrasensitive detection of BRAF V600E mutations in circulating tumor DNA of patients with metastatic thyroid cancer

Authors: Mohamed A. Gouda, Emily Ong, Helen J. Huang, Laron W. McPhaul, Steve Yoon, Filip Janku, Andrew G. Gianoukakis

Published in: Endocrine | Issue 2/2022

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Excerpt

There has been a growing interest in characterizing molecular alterations that can drive oncogenesis in thyroid cancer [1]. These molecular alterations are increasingly gaining importance in diagnosis and prognostication and can represent targets for therapeutic intervention. Some of the most studied actionable mutations are BRAF alterations, which are present in 30–70% of patients [24]. These alterations lead to unbridled activation of the MAPK pathway which controls cell growth and division, thus contributing to thyroid cancer pathogenesis [1, 3, 59]. …
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Literature
1.
go back to reference M. Xing, Molecular pathogenesis and mechanisms of thyroid cancer. Nat. Rev. Cancer 13, 184–199 (2013)CrossRef M. Xing, Molecular pathogenesis and mechanisms of thyroid cancer. Nat. Rev. Cancer 13, 184–199 (2013)CrossRef
2.
go back to reference A. Zaman, W. Wu, T.G. Bivona, Bivona, Targeting oncogenic BRAF: past, present, and future. Cancers 11, 1197 (2019).CrossRef A. Zaman, W. Wu, T.G. Bivona, Bivona, Targeting oncogenic BRAF: past, present, and future. Cancers 11, 1197 (2019).CrossRef
3.
go back to reference M. Xing, A.S. Alzahrani, K.A. Carson, D. Viola, R. Elisei et al. Association between BRAF V600E mutation and mortality in patients with papillary thyroid cancer. JAMA 309, 1493–1501 (2013)CrossRef M. Xing, A.S. Alzahrani, K.A. Carson, D. Viola, R. Elisei et al. Association between BRAF V600E mutation and mortality in patients with papillary thyroid cancer. JAMA 309, 1493–1501 (2013)CrossRef
4.
go back to reference A. Czarniecka, M. Oczko-Wojciechowska, M. Barczynski, BRAF V600E mutation in prognostication of papillary thyroid cancer (PTC) recurrence. Gland Surg. 5, 495–505 (2016)CrossRef A. Czarniecka, M. Oczko-Wojciechowska, M. Barczynski, BRAF V600E mutation in prognostication of papillary thyroid cancer (PTC) recurrence. Gland Surg. 5, 495–505 (2016)CrossRef
6.
go back to reference M.J. Garnett, R. Marais, Guilty as charged: B-RAF is a human oncogene. Cancer Cell 6, 313–319 (2004)CrossRef M.J. Garnett, R. Marais, Guilty as charged: B-RAF is a human oncogene. Cancer Cell 6, 313–319 (2004)CrossRef
7.
go back to reference P.T. Wan, M.J. Garnett, S.M. Roe, S. Lee, D. Niculescu-Duvaz et al. Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Cell 116, 855–867 (2004)CrossRef P.T. Wan, M.J. Garnett, S.M. Roe, S. Lee, D. Niculescu-Duvaz et al. Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Cell 116, 855–867 (2004)CrossRef
8.
go back to reference E.T. Kimura, M.N. Nikiforova, Z. Zhu, J.A. Knauf, Y.E. Nikiforov et al. High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. Cancer Res. 63, 1454–1457 (2003)PubMed E.T. Kimura, M.N. Nikiforova, Z. Zhu, J.A. Knauf, Y.E. Nikiforov et al. High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. Cancer Res. 63, 1454–1457 (2003)PubMed
9.
go back to reference J. Ge, J. Wang, H. Wang, X. Jiang, Q. Liao et al. The BRAF V600E mutation is a predictor of the effect of radioiodine therapy in papillary thyroid cancer. J. Cancer 11, 932–939 (2020)CrossRef J. Ge, J. Wang, H. Wang, X. Jiang, Q. Liao et al. The BRAF V600E mutation is a predictor of the effect of radioiodine therapy in papillary thyroid cancer. J. Cancer 11, 932–939 (2020)CrossRef
10.
go back to reference M. Gerlinger, A.J. Rowan, S. Horswell, M. Math, J. Larkin et al. Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N. Engl. J. Med. 366, 883–892 (2012)CrossRef M. Gerlinger, A.J. Rowan, S. Horswell, M. Math, J. Larkin et al. Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N. Engl. J. Med. 366, 883–892 (2012)CrossRef
11.
go back to reference C. Bettegowda, M. Sausen, R.J. Leary, I. Kinde, Y. Wang et al. Detection of circulating tumor DNA in early- and late-stage human malignancies. Sci. Transl. Med. 6, 224ra224 (2014)CrossRef C. Bettegowda, M. Sausen, R.J. Leary, I. Kinde, Y. Wang et al. Detection of circulating tumor DNA in early- and late-stage human malignancies. Sci. Transl. Med. 6, 224ra224 (2014)CrossRef
12.
go back to reference C. Rolfo, P.C. Mack, G.V. Scagliotti, P. Baas, F. Barlesi et al. Liquid biopsy for advanced non-small cell lung cancer (NSCLC): a statement paper from the IASLC. J. Thorac. Oncol. 13, 1248–1268 (2018)CrossRef C. Rolfo, P.C. Mack, G.V. Scagliotti, P. Baas, F. Barlesi et al. Liquid biopsy for advanced non-small cell lung cancer (NSCLC): a statement paper from the IASLC. J. Thorac. Oncol. 13, 1248–1268 (2018)CrossRef
13.
go back to reference M. Daniotti, V. Vallacchi, L. Rivoltini, R. Patuzzo, M. Santinami et al. Detection of mutated BRAFV600E variant in circulating DNA of stage III-IV melanoma patients. Int J. Cancer 120, 2439–2444 (2007)CrossRef M. Daniotti, V. Vallacchi, L. Rivoltini, R. Patuzzo, M. Santinami et al. Detection of mutated BRAFV600E variant in circulating DNA of stage III-IV melanoma patients. Int J. Cancer 120, 2439–2444 (2007)CrossRef
14.
go back to reference K.W. Cradic, D. Milosevic, A.M. Rosenberg, L.A. Erickson, B. McIver et al. Mutant BRAF(T1799A) can be detected in the blood of papillary thyroid carcinoma patients and correlates with disease status. J. Clin. Endocrinol. Metab. 94, 5001–5009 (2009)CrossRef K.W. Cradic, D. Milosevic, A.M. Rosenberg, L.A. Erickson, B. McIver et al. Mutant BRAF(T1799A) can be detected in the blood of papillary thyroid carcinoma patients and correlates with disease status. J. Clin. Endocrinol. Metab. 94, 5001–5009 (2009)CrossRef
15.
go back to reference J.Y. Kwak, J.J. Jeong, S.W. Kang, S. Park, J.R. Choi et al. Study of peripheral BRAF(V600E) mutation as a possible novel marker for papillary thyroid carcinomas. Head. Neck 35, 1630–1633 (2013)CrossRef J.Y. Kwak, J.J. Jeong, S.W. Kang, S. Park, J.R. Choi et al. Study of peripheral BRAF(V600E) mutation as a possible novel marker for papillary thyroid carcinomas. Head. Neck 35, 1630–1633 (2013)CrossRef
16.
go back to reference V. Condello, E. Macerola, C. Ugolini, L. De Napoli, C. Romei et al. Analysis of circulating tumor DNA does not improve the clinical management of patients with locally advanced and metastatic papillary thyroid carcinoma. Head. Neck 40, 1752–1758 (2018)PubMed V. Condello, E. Macerola, C. Ugolini, L. De Napoli, C. Romei et al. Analysis of circulating tumor DNA does not improve the clinical management of patients with locally advanced and metastatic papillary thyroid carcinoma. Head. Neck 40, 1752–1758 (2018)PubMed
17.
go back to reference B.H. Kim, I.J. Kim, B.J. Lee, J.C. Lee, I.S. Kim et al. Detection of plasma BRAF(V600E) mutation is associated with lung metastasis in papillary thyroid carcinomas. Yonsei Med. J. 56, 634–640 (2015)CrossRef B.H. Kim, I.J. Kim, B.J. Lee, J.C. Lee, I.S. Kim et al. Detection of plasma BRAF(V600E) mutation is associated with lung metastasis in papillary thyroid carcinomas. Yonsei Med. J. 56, 634–640 (2015)CrossRef
18.
go back to reference J.M. Fussey, J.L. Bryant, N. Batis, R.J. Spruce, A. Hartley et al. The clinical utility of cell-free DNA measurement in differentiated thyroid cancer: a systematic review. Front Oncol. 8, 132 (2018)CrossRef J.M. Fussey, J.L. Bryant, N. Batis, R.J. Spruce, A. Hartley et al. The clinical utility of cell-free DNA measurement in differentiated thyroid cancer: a systematic review. Front Oncol. 8, 132 (2018)CrossRef
19.
go back to reference D.M. Allin, R. Shaikh, P. Carter, K. Thway, M.T.A. Sharabiani et al. Circulating tumour DNA is a potential biomarker for disease progression and response to targeted therapy in advanced thyroid cancer. Eur. J. Cancer 103, 165–175 (2018)CrossRef D.M. Allin, R. Shaikh, P. Carter, K. Thway, M.T.A. Sharabiani et al. Circulating tumour DNA is a potential biomarker for disease progression and response to targeted therapy in advanced thyroid cancer. Eur. J. Cancer 103, 165–175 (2018)CrossRef
20.
go back to reference B.R. Haugen, E.K. Alexander, K.C. Bible, G.M. Doherty, S.J. Mandel et al. 2015 American Thyroid Association Management Guidelines for Adult Patients with Thyroid Nodules and Differentiated Thyroid Cancer: The American Thyroid Association Guidelines Task Force on Thyroid Nodules and Differentiated Thyroid Cancer. Thyroid 26, 1–133 (2016)CrossRef B.R. Haugen, E.K. Alexander, K.C. Bible, G.M. Doherty, S.J. Mandel et al. 2015 American Thyroid Association Management Guidelines for Adult Patients with Thyroid Nodules and Differentiated Thyroid Cancer: The American Thyroid Association Guidelines Task Force on Thyroid Nodules and Differentiated Thyroid Cancer. Thyroid 26, 1–133 (2016)CrossRef
21.
go back to reference C.P. Gilfillan, Review of the genetics of thyroid tumours: diagnostic and prognostic implications. ANZ J. Surg. 80, 33–40 (2010)CrossRef C.P. Gilfillan, Review of the genetics of thyroid tumours: diagnostic and prognostic implications. ANZ J. Surg. 80, 33–40 (2010)CrossRef
Metadata
Title
Ultrasensitive detection of BRAF V600E mutations in circulating tumor DNA of patients with metastatic thyroid cancer
Authors
Mohamed A. Gouda
Emily Ong
Helen J. Huang
Laron W. McPhaul
Steve Yoon
Filip Janku
Andrew G. Gianoukakis
Publication date
01-05-2022
Publisher
Springer US
Published in
Endocrine / Issue 2/2022
Print ISSN: 1355-008X
Electronic ISSN: 1559-0100
DOI
https://doi.org/10.1007/s12020-022-03004-z

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