Keywords
How to Cite
Abstract
Mutation BRAFV600E is highly specific for papillary thyroid carcinoma. It’s detected in 40-70% of all papillary thyroid carcinoma cases. Moreover this mutation is noticed in anaplastic carcinoma in 40-50%.This fact gives a chance to select patients and provide targeted therapy with multi-kinase inhibitors in cases of unresectable anaplastic carcinoma. The influence of BRAF V600E mutation for response to radioactive iodine therapy requires more evidence-based research. Existing methods for determining the BRAFV600E mutation have different accuracy, availability and cost. Other methodological aspects are also associated with the sample preparation of biological material, the quality of reagents, and the cross-validation of research results. In this review, on the basis of our own experience and literature data, the indications for determining the mutation of the BRAFV600E gene in clinical practice are refined, and a comprehensive comparative analysis of modern research methods has been conducted. This review is focused on a wide range of specialists of different types: oncologists, endocrinologists, radiologists, pathologists, and biologists.References
Васильев Е.В., Румянцев П.О, Саенко В.А. и др; Молекулярный анализ структурных нарушений генома папиллярных карцином щитовидной железы // Молекулярная биология. - 2004. - Т. 38. - № 4. - С. 642-653.
Васильев Е.В., Румянцев П.О, Саенко В.А. и др. Радиационно-индуцированные опухоли: диагностика молекулярной патологии в различных формах рака щитовидной железы // Вестник научно-исследовательского института молекулярной медицины. Молекулярная медицина и безопасность. - Выпуск 4. - С. 55-73.
Мальков П.Г., Франк Г.А. Основы обеспечения качества в гистологической лабораторной технике. - Москва, 2011.
Сидорин АВ. Абросимов А.Ю. и др. Клинические, морфологические и прогностические особенности папиллярного рака щитовидной железы с различным статусом BRAF, установленным иммуногистохимическим методом // Архив патологии. - 2018. - С. 19-25.
Поляков А.П., Волченко Н.Н., Славнова Е.Н. и др. Влияние статуса гена BRAF на выбор тактики хирургического лечения высокодифференцированного рака щитовидной железы // Опухоли головы и шеи. - 2016. - Т. 6. - № 4. - С. 45-48.
Румянцев П.О., Залетаев Д.В., Васильев Е.В. и др. Анализ частоты соматических мутаций генов BRAF и RET в папиллярном раке щитовидной железы // Вопросы онкологии. - 2006. - Т. 52. - № 2. - С. 145-149.
Румянцев П.О., Мудунов А.М. Биобанкинг в онкологии и радиологии // Эндокринная хирургия. - 2017. - Т.11. - № 4.
Agarwal R, Wang J, Wilson K et al. Response to Targeted Therapy in BRAF Mutant Anaplastic Thyroid Cancer // J. Natl. Compr. Canc. Netw. - 2016. - Vol. 14(10). - P 1203-1207.
Barollo S., Pennelli G., Vianello F. et al. BRAF in primary and recurrent papillary thyroid cancers: the relationship with (131)I and 2-[(18)F]fluoro-2-deoxy-D-glucose uptake ability // Eur. J. Endocrinol. - 2010. - Vol. 163(4). - P. 659-663. - DOI: 10.1530/EJE-10-0290
Baier N.D., Hahn P.F., Gervais D.A. et al. Fine-needle aspiration biopsy of thyroid nodules: experience in a cohort of 944 patients // AJR Am. J. Roentgenol. - 2009. - Vol. 193(4). - P 1175-1179. - DOI: 10.2214/AJR.08.1840
James D. Brierley, Mary K. Gospodarowicz, Christian Wittekind. TNM Classification of Malignant Tumours, 2017. - 272 p.
COSMIC;Lovly et al. 2012; Rubinstein et al. 2010.
Chat-Uthai N., Vejvisithsakul P., Udommethaporn S. et al. Development of ultra-short PCR assay to reveal BRAF V600 mutation status in Thai colorectal cancer tissues // PLoS One. - 2018. -Vol. 13(6). - P. e0198795. - DOI: 10.1371/journal.pone.0198795
Carrie C.Lubitz, Sareh Parangi, Tammy M.Holm et al. Detection of Circulating BRAFV600E in Patients with Papillary Thyroid Carcinoma // J. Mol. Diagn. - 2016. - Vol. 18(1). - P. 100-108.
Dabrafenib. Summary of Product Characteristics, 2015.
Dahse R., Kromeyer-Hauschild K., Berndt A. et al. No incidence of BRAF mutations in salivary gland carcino-mas-implications for anti-EGFR therapies // J. Biomed. Biotechnol. - 2009. - Vol. 2009. - P. 501736. - DOI: 10.1155/2009/501736
Dong H. et al. Effects of BRAF(V600E) mutation on Na( )/I(-) symporter expression in papillary thyroid carcinoma // J. Huazhong Univ. Sci. Technolog Med. Sci. - 2016. - Vol. 36(1). - P. 77-81. - DOI: 10.1007/s11596-016-1545-3
Dobashi Y., Sugimura H., Sakamoto A. et al. Stepwise participation of p53 gene mutation during dedifferentiation of human thyroid carcinomas // Diagn. Mol. Pathol. - 1994. - Vol. 3. - P. 9-14.
Diehl F., Li M., Dressman D. et al. Detection and quantification of mutations in the plasma of patients with colorectal tumors // Proc. Natl. Acad. Sci. U. S. A. - 2005. - Vol. 102(45). - P. 16368-16373.
Dunn L.A., Sherman E.J., Baxi S.S. et al. Vemurafenib redifferentiation of BRAF mutant, RAI-refractory thyroid cancers // J. Clin. Endocrinol. Metab. - 2018. - DOI: 10.1210/jc.2018-01478
Elisei R., Viola D., Torregrossa L. et al. The BRAF(V600E) mutation is an independent, poor prognostic factor for the outcome of patients with low-risk intrathyroid papillary thyroid carcinoma: single-institution results from a large cohort study // J. Clin. Endocrinol. Metab. - 2012. - Vol. 97. - P. 4390-4398.
Forbes S.A., Beare D., Gunasekaran P. et al. COSMIC: exploring the world's knowledge of somatic mutations in human cancer // Nucleic. Acids. Res. - 2015. - Vol. 43. - P. D805-D811.
Gonzalez D. et al. BRAF mutation testing algorithm for vemurafenib treatment in melanoma: recommendations from an expert panel // British Journal of Dermatology. - 2013. - Vol. 168(4). - P. 700-707. - 10.1111/ bjd.12248. DOI: 10.1111/bjd.12248
Garcia-Rostan G., Costa A.M., Pereira-Castro I. et al. Mutation of the PIK3CA gene in anaplastic thyroid cancer // Cancer Res. - 2005. - Vol. 65. - P. 10199-10207.
Guibert N., Pradines A., Casanova A. et al. Detection and Monitoring of the BRAF Mutation in Circulating Tumor Cells and Circulating Tumor DNA in BRAF-Mu-tated Lung Adenocarcinoma // J. Thorac. Oncol. - 2016. - Vol. 11(9). - P. e109-12. - 10.1016/j. jtho.2016.05.001 DOI: 10.1016/j.jtho.2016.05.001
Haugen B.R., Alexander E.K., Bible K.C. et al. 2015AmericanThyroid Association Management Guidelines for Adult Patients with Thyroid Nodules and Differentiated Thyroid Cancer: The American ThyroidAssociation Guidelines Task Force on Thyroid Nodules and Differentiated Thyroid Cancer. Thyroid: official journal of the American Thyroid Association // Thyroid. - 2016. - Vol. 26(1). - P. 1133. - DOI: 10.1089/thy.2015.0020
Hainaut P., Vaught J., Zatloukal K., Pasterk M. Banking of Human Biospecimens. Switzerland: Springer, 2017. - 239 p.
Holderfield M., Deuker M.M., McCormick F. et al. Targeting RAF kinases for cancer therapy: BRAF-mutated melanoma and beyond // Nature Reviews Cancer. - 2014. - Vol. 14. - P. 455-467.
Hou P., Liu D., Shan Y. et al. Genetic alterations and their relationship in the phosphatidylinositol 3-kinase/Akt pathway in thyroid cancer // Clin. Cancer Res. - 2007. - Vol. 13. - P. 1161-1170.
Knauf J.A., Ma X., Smith E.P. et al. Targeted expression of BRAFV600E in thyroid cells of transgenic mice results in papillary thyroid cancers that undergo dedifferentiation // Cancer Res. - 2005. - Vol. 65. - P. 4238.
Kowalik A., Kowalska A., Walczyk A. et al. Evaluation of molecular diagnostic approaches for the detection of BRAF p.V600E mutations in papillary thyroid cancer: Clinical implications // PLOS ONE. - 2017. - https://doi. org/. DOI: 10.1371/journal.pone.0179691
Landa I., Ibrahimpasic T., Boucai L. et al. Genomic and transcriptomic hallmarks of poorly differentiated and anaplastic thyroid cancers // J. Clin. Invest. - 2016. - Vol. 126. - P. 1052-1066.
Lim J. S. J., Janku F., Yap T.A. Circulating tumor DNA- From bench to bedside // Current Problems in Cancer. - 2017. - Vol. 41 (3). - P. 212-221.
Li J., Liang J. Noninferior response in BRAFV600E mutant nonmetastatic papillary thyroid carcinoma to radioiodine therapy // Eur. J. Nucl. Med. Mol. Imaging. - 2016. - Vol. 43(6). - P. 1034-9. - DOI: 10.1007/s00259-015-3305-1
Liu R.T., Chen Y.J., Chou F.F. et al. No correlation between BRAFV600E mutation and clinicopathological features of papillary thyroid carcinomas in Taiwan // Clin. Endocrinol. (Oxf). - 2005. - Vol. 63(4). - P. 461-466.
Liu X., Qu S., Liu R. et al. TERT promoter mutations and their association with BRAF V600E mutation and aggressive clinicopathological characteristics of thyroid cancer // J. Clin. Endocrinol. Metab. - 2014. - Vol. 99. - P. E1130-E1136.
NCCN 2018 Thyroid cancer.
Rao S.N., Zafereo M., Dadu R. et al. Patterns of treatment failure in anaplastic Thyroid carcinoma // Thyroid. - 2017. - Vol. 27. - P. 672-681.
Ripoli F., Mohr A., Hammer S. et al. A Comparison of Fresh Frozen vs. Formalin-Fixed, Paraffin-Embedded Specimens of Canine Mammary Tumors via Branched-DNA Assay // Int. J. Mol. Sci. - 2016. - Vol. 17(5). - P. E724.
Trametinib. Summary of Product Characteristics, 2015.
Vemurafenib. Summary of Product Characteristics, 2014.
Santhanam P., Khthir R., Solnes L.B. et al. The relationship of BRAFV600E mutation status to FDG PET/CT avidity in thyroid cancer: a review and meta-analysis // Endocr. Pract. - 2018. - Vol. 24(1). - P. 21-26. - DOI: 10.4158/EP-2017-0080
Scott E., Learoyd D., Clifton-Bligh R.J. Therapeutic options in papillary thyroid carcinoma: current guidelines and future perspectives // Future Oncol. - 2016. - Vol. 12. - P. 2603-2613.
Subbiah V., Kreitman R.J., Wainberg Z.A. et al. Dabrafenib and Trametinib Treatment in Patients With Locally Advanced or Metastatic BRAF V600-Mutant Anaplastic Thyroid Cancer // J. Clin. Oncol. - 2018. - Vol. 36(1). - P. 7-13. - DOI: 10.1200/JC0.2017.73.6785
Xing M. BRAF mutation in papillary thyroid cancer: pathogenic role, molecular bases, and clinical implications // Endocrine Rev. - 2007. - Vol. 28. - P. 742-762.
Xing M., Alzahrani A.S., Carson K.A. et al. Association between BRAF V600E mutation and mortality in patients with papillary thyroid cancer // JAMA. - 2013. - Vol. 309. - P. 1493-1501.
Xing M., Liu R., Liu X. et al. BRAF V600E and TERT promoter mutations cooperatively identify the most aggressive papillary thyroid cancer with highest recurrence // J. Clin. Oncol. - 2014. - Vol. 32. - P.2718-2726.
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
© АННМО «Вопросы онкологии», Copyright (c) 2019