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International Journal of Endocrinology
Volume 2015, Article ID 138734, 7 pages
http://dx.doi.org/10.1155/2015/138734
Research Article

BRAF Mutations in an Italian Regional Population: Implications for the Therapy of Thyroid Cancer

1Department of Internal Medicine, Endocrinology Unit, IRCCS IST Azienda Ospedaliera Universitaria “San Martino”, Largo R. Benzi, No. 10, 16132 Genoa, Italy
2Department of Pathology, Molecular Diagnostic Unit, IRCCS IST Azienda Ospedaliera Universitaria “San Martino”, Largo R. Benzi, No. 10, 16132 Genoa, Italy
3Department of Surgery, Endocrinology Surgery Unit, IRCCS IST Azienda Ospedaliera Universitaria “San Martino”, Largo R. Benzi, No. 10, 16132 Genoa, Italy

Received 27 August 2015; Revised 27 October 2015; Accepted 28 October 2015

Academic Editor: Alexander Schreiber

Copyright © 2015 Eleonora Monti et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. L. Davies and H. G. Welch, “Increasing incidence of thyroid cancer in the United States, 1973–2002,” The Journal of the American Medical Association, vol. 295, no. 18, pp. 2164–2167, 2006. View at Publisher · View at Google Scholar · View at Scopus
  2. J. Albores-Saavedra, D. E. Henson, E. Glazer, and A. M. Schwartz, “Changing patterns in the incidence and survival of thyroid cancer with follicular phenotype—papillary, follicular, and anaplastic: a morphological and epidemiological study,” Endocrine Pathology, vol. 18, no. 1, pp. 1–7, 2007. View at Publisher · View at Google Scholar · View at Scopus
  3. J. R. Burgess and P. Tucker, “Incidence trends for papillary thyroid carcinoma and their correlation with thyroid surgery and thyroid fine-needle aspirate cytology,” Thyroid, vol. 16, no. 1, pp. 47–53, 2006. View at Publisher · View at Google Scholar · View at Scopus
  4. M. Colonna, A. V. Guizard, C. Schvartz et al., “A time trend analysis of papillary and follicular cancers as a function of tumour size: a study of data from six cancer registries in France (1983–2000),” European Journal of Cancer, vol. 43, no. 5, pp. 891–900, 2007. View at Publisher · View at Google Scholar · View at Scopus
  5. M. C. Frates, C. B. Benson, P. M. Doubilet et al., “Prevalence and distribution of carcinoma in patients with solitary and multiple thyroid nodules on sonography,” Journal of Clinical Endocrinology and Metabolism, vol. 91, no. 9, pp. 3411–3417, 2006. View at Publisher · View at Google Scholar · View at Scopus
  6. E. Papini, R. Guglielmi, A. Bianchini et al., “Risk of malignancy in nonpalpable thyroid nodules: predictive value of ultrasound and color-doppler features,” The Journal of Clinical Endocrinology & Metabolism, vol. 87, no. 5, pp. 1941–1946, 2002. View at Publisher · View at Google Scholar · View at Scopus
  7. T. S. Greaves, M. Olvera, B. D. Florentine et al., “Follicular lesions of thyroid: a 5-year fine-needle aspiration experience,” Cancer, vol. 90, no. 6, pp. 335–341, 2000. View at Google Scholar · View at Scopus
  8. G. M. Sclabas, G. A. Staerkel, S. E. Shapiro et al., “Fine-needle aspiration of the thyroid and correlation with histopathology in a contemporary series of 240 patients,” The American Journal of Surgery, vol. 186, no. 6, pp. 702–710, 2003. View at Publisher · View at Google Scholar · View at Scopus
  9. L. Yassa, E. S. Cibas, C. B. Benson et al., “Long-term assessment of a multidisciplinary approach to thyroid nodule diagnostic evaluation,” Cancer, vol. 111, no. 6, pp. 508–516, 2007. View at Publisher · View at Google Scholar · View at Scopus
  10. Y. E. Nikiforov, D. L. Steward, T. M. Robinson-Smith et al., “Molecular testing for mutations in improving the fine-needle aspiration diagnosis of thyroid nodules,” The Journal of Clinical Endocrinology & Metabolism, vol. 94, no. 6, pp. 2092–2098, 2009. View at Publisher · View at Google Scholar · View at Scopus
  11. N. P. Ohori, M. N. Nikiforova, K. E. Schoedel et al., “Contribution of molecular testing to thyroid fine-needle aspiration cytology of ‘follicular lesion of undetermined significance/atypia of undetermined significance’,” Cancer Cytopathology, vol. 118, no. 1, pp. 17–23, 2010. View at Publisher · View at Google Scholar · View at Scopus
  12. M. Liu, M. Ruan, and L. Chen, “Update on the molecular diagnosis and targeted therapy of thyroid cancer,” Medical Oncology, vol. 31, article 973, 2014. View at Publisher · View at Google Scholar · View at Scopus
  13. L. Yip, L. I. Wharry, M. J. Armstrong et al., “A clinical algorithm for fine-needle aspiration molecular testing effectively guides the appropriate extent of initial thyroidectomy,” Annals of Surgery, vol. 260, no. 1, pp. 163–168, 2014. View at Publisher · View at Google Scholar · View at Scopus
  14. J. Zagzag, A. Pollack, L. Dultz et al., “Clinical utility of immunohistochemistry for the detection of the BRAF v600e mutation in papillary thyroid carcinoma,” Surgery, vol. 154, no. 6, pp. 1199–1205, 2013. View at Publisher · View at Google Scholar · View at Scopus
  15. A. Guerra, M. R. Sapio, V. Marotta et al., “The primary occurrence of BRAFV600E is a rare clonal event in papillary thyroid carcinoma,” The Journal of Clinical Endocrinology & Metabolism, vol. 97, no. 2, pp. 517–524, 2012. View at Publisher · View at Google Scholar · View at Scopus
  16. V. Trovisco, P. Soares, R. Soares, J. Magalhães, P. Sá-Couto, and M. Sobrinho-Simões, “A new BRAF gene mutation detected in a case of a solid variant of papillary thyroid carcinoma,” Human Pathology, vol. 36, no. 6, pp. 694–697, 2005. View at Publisher · View at Google Scholar · View at Scopus
  17. P. T. C. Wan, M. J. Garnett, S. M. Roe et al., “Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF,” Cell, vol. 116, no. 6, pp. 855–867, 2004. View at Publisher · View at Google Scholar · View at Scopus
  18. H. Guan, M. Ji, R. Bao et al., “Association of high iodine intake with the T1799A BRAF mutation in papillary thyroid cancer,” Journal of Clinical Endocrinology and Metabolism, vol. 94, no. 5, pp. 1612–1617, 2009. View at Publisher · View at Google Scholar · View at Scopus
  19. K.-W. Chung, S. K. Yang, G. K. Lee et al., “Detection of BRAFV600E mutation on fine needle aspiration specimens of thyroid nodule refines cyto-pathology diagnosis, especially in BRAFV600E mutation-prevalent area,” Clinical Endocrinology, vol. 65, no. 5, pp. 660–666, 2006. View at Publisher · View at Google Scholar · View at Scopus
  20. G. M. Howell, S. E. Carty, M. J. Armstrong et al., “Both BRAF V600E mutation and older age (65 years) are associated with recurrent papillary thyroid cancer,” Annals of Surgical Oncology, vol. 18, no. 13, pp. 3566–3571, 2011. View at Publisher · View at Google Scholar · View at Scopus
  21. A. Guerra, L. Fugazzola, V. Marotta et al., “A high percentage of BRAFV600E alleles in papillary thyroid carcinoma predicts a poorer outcome,” The Journal of Clinical Endocrinology & Metabolism, vol. 97, no. 7, pp. 2333–2340, 2012. View at Publisher · View at Google Scholar · View at Scopus
  22. C. Nucera and A. Pontecorvi, “Clinical outcome, role of BRAF(V600E), and molecular pathways in papillary thyroid microcarcinoma: is it an indolent cancer or an early stage of papillary thyroid cancer?” Frontiers in Endocrinology, vol. 3, article 33, 2012. View at Publisher · View at Google Scholar · View at Scopus
  23. X. Wei, Y. Li, S. Zhang, and M. Gao, “Prediction of thyroid extracapsular extension with cervical lymph node metastases (ECE-LN) by CEUS and BRAF expression in papillary thyroid carcinoma,” Tumor Biology, vol. 35, no. 9, pp. 8559–8564, 2014. View at Publisher · View at Google Scholar · View at Scopus
  24. M. N. Nikiforova, A. I. Wald, S. Roy, M. B. Durso, and Y. E. Nikiforov, “Targeted next-generation sequencing panel (ThyroSeq) for detection of mutations in thyroid cancer,” Journal of Clinical Endocrinology and Metabolism, vol. 98, no. 11, pp. E1852–E1860, 2013. View at Publisher · View at Google Scholar · View at Scopus
  25. Y. E. Nikiforov, N. P. Ohori, S. P. Hodak et al., “Impact of mutational testing on the diagnosis and management of patients with cytologically indeterminate thyroid nodules: a prospective analysis of 1056 FNA samples,” Journal of Clinical Endocrinology and Metabolism, vol. 96, no. 11, pp. 3390–3397, 2011. View at Publisher · View at Google Scholar · View at Scopus
  26. H. Gharib and E. Papini, “Thyroid nodules: clinical importance, assessment, and treatment,” Endocrinology and Metabolism Clinics of North America, vol. 36, no. 3, pp. 707–735, 2007. View at Publisher · View at Google Scholar
  27. British Thyroid Association and Royal Collage of Phisicians, Guidelines for the Management of Thyroid Cancer, Royal College of Physicians, 2001.
  28. A. Guerra, V. Di Crescenzo, A. Garzi et al., “Diagnostic utility of BRAFV600E mutation testing in thyroid nodules in elderly patients,” BMC Surgery, vol. 13, supplement 2, article S37, 2013. View at Publisher · View at Google Scholar · View at Scopus
  29. M. Dono, C. Massucco, S. Chiara et al., “Low percentage of KRAS mutations revealed by locked nucleic acid polymerase chain reaction: implications for treatment of metastatic colorectal cancer,” Molecular Medicine, vol. 18, no. 12, pp. 1519–1526, 2012. View at Publisher · View at Google Scholar · View at Scopus
  30. M. R. Pelizzo, C. Dobrinja, E. C. Ide et al., “The role of BRAF(V600E) mutation as poor prognostic factor for the outcome of patients with intrathyroid papillary thyroid carcinoma,” Biomedicine & Pharmacotherapy, vol. 68, no. 4, pp. 413–417, 2014. View at Publisher · View at Google Scholar · View at Scopus
  31. E. D. Rossi, T. Bizzarro, M. Martini et al., “Morphological parameters able to predict BRAF(V600E)-mutated malignancies on thyroid fine-needle aspiration cytology: our institutional experience,” Cancer Cytopathology, vol. 122, no. 12, pp. 883–891, 2014. View at Google Scholar
  32. M. Rossi, M. Buratto, F. Tagliati et al., “Relevance of BRAFV600E mutation testing versus RAS point mutations and RET/PTC rearrangements. Evaluation in the diagnosis of thyroid cancer,” Thyroid, vol. 25, no. 2, pp. 221–228, 2015. View at Publisher · View at Google Scholar · View at Scopus
  33. K. W. Chung, S. K. Yang, G. K. Lee et al., “Detection of BRAFV600E mutation on fine needle aspiration specimens of thyroid nodule refines cyto-pathology diagnosis, especially in BRAFV600E mutation-prevalent area,” Clinical Endocrinology, vol. 65, no. 5, pp. 660–666, 2006. View at Publisher · View at Google Scholar
  34. H. Guan, M. Ji, R. Bao et al., “Association of high iodine intake with the T1799A BRAF mutation in papillary thyroid cancer,” The Journal of Clinical Endocrinology & Metabolism, vol. 94, no. 5, pp. 1612–1617, 2009. View at Publisher · View at Google Scholar · View at Scopus
  35. M. Giusti, C. Campomenosi, S. Gay et al., “The use of semi-quantitative ultrasound elastosonography in combination with conventional ultrasonography and contrast-enhanced ultrasonography in the assessment of malignancy risk of thyroid nodules with indeterminate cytology,” Thyroid Research, vol. 7, no. 1, article 9, 2014. View at Publisher · View at Google Scholar
  36. M. Xing, W. H. Westra, R. P. Tufano et al., “BRAF mutation predicts a poorer clinical prognosis for papillary thyroid cancer,” The Journal of Clinical Endocrinology & Metabolism, vol. 90, no. 12, pp. 6373–6379, 2005. View at Publisher · View at Google Scholar · View at Scopus
  37. M. Xing, “Prognostic utility of BRAF mutation in papillary thyroid cancer,” Molecular and Cellular Endocrinology, vol. 321, no. 1, pp. 86–93, 2010. View at Publisher · View at Google Scholar · View at Scopus
  38. G. Riesco-Eizaguirre, P. Gutiérrez-Martínez, M. A. García-Cabezas, M. Nistal, and P. Santisteban, “The oncogene BRAFV600E is associated with a high risk of recurrence and less differentiated papillary thyroid carcinoma due to the impairment of Na+/I targeting to the membrane,” Endocrine-Related Cancer, vol. 13, no. 1, pp. 257–269, 2006. View at Publisher · View at Google Scholar · View at Scopus
  39. S. Barollo, G. Pennelli, F. Vianello et al., “BRAF in primary and recurrent papillary thyroid cancers: the relationship with 131I and 2-[18F]fluoro-2-deoxy-D-glucose uptake ability,” European Journal of Endocrinology, vol. 163, no. 4, pp. 659–663, 2010. View at Publisher · View at Google Scholar · View at Scopus
  40. C. Xi, X.-Q. Xu, T. Hong, B.-L. Li, and W. Liu, “Extrathyroidal implantation of thyroid hyperplastic/neoplastic cells after endoscopic thyroid surgery,” Chinese Medical Sciences Journal, vol. 29, no. 3, pp. 180–184, 2014. View at Publisher · View at Google Scholar · View at Scopus
  41. C. Mian, S. Barollo, G. Pennelli et al., “Molecular characteristics in papillary thyroid cancers (PTCs) with no 131I uptake,” Clinical Endocrinology, vol. 68, no. 1, pp. 108–116, 2008. View at Publisher · View at Google Scholar · View at Scopus
  42. M. N. Nikiforova and Y. E. Nikiforov, “Molecular diagnostics and predictors in thyroid cancer,” Thyroid, vol. 19, no. 12, pp. 1351–1361, 2009. View at Publisher · View at Google Scholar · View at Scopus
  43. L. Yip, L. I. Wharry, M. J. Armstrong et al., “A clinical algorithm for fine-needle aspiration molecular testing effectively guides the appropriate extent of initial thyroidectomy,” Annals of Surgery, vol. 260, no. 1, pp. 163–168, 2014. View at Publisher · View at Google Scholar · View at Scopus
  44. M. Xing, “BRAF V600E mutation and papillary thyroid cancer,” The Journal of the American Medical Association, vol. 310, no. 5, p. 535, 2013. View at Publisher · View at Google Scholar · View at Scopus
  45. S. Liu, B. Zhang, Y. Zhao et al., “Association of BRAFV600E mutation with clinicopathological features of papillary thyroid carcinoma: a study on a Chinese population,” International Journal of Clinical and Experimental Pathology, vol. 7, no. 10, pp. 6922–6928, 2014. View at Google Scholar · View at Scopus
  46. M. Eszlinger, A. Krogdahl, S. Münz et al., “Impact of molecular screening for point mutations and rearrangements in routine air-dried fine-needle aspiration samples of thyroid nodules,” Thyroid, vol. 24, no. 2, pp. 305–313, 2014. View at Publisher · View at Google Scholar · View at Scopus
  47. D. S. Cooper, G. M. Doherty, B. R. Haugen et al., “Revised American Thyroid Association management guidelines for patients with thyroid nodules and differentiated thyroid cancer,” Thyroid, vol. 19, no. 11, pp. 1167–1214, 2009. View at Publisher · View at Google Scholar
  48. K.-L. Lin, O.-C. Wang, X.-H. Zhang, X.-X. Dai, X.-Q. Hu, and J.-M. Qu, “The BRAF mutation is predictive of aggressive clinicopathological characteristics in papillary thyroid microcarcinoma,” Annals of Surgical Oncology, vol. 17, no. 12, pp. 3294–3300, 2010. View at Publisher · View at Google Scholar · View at Scopus
  49. J. Y. Kwak, E.-K. Kim, W. Y. Chung, H. J. Moon, M. J. Kim, and J. R. Choi, “Association of BRAFV600E mutation with poor clinical prognostic factors and US features in Korean patients with papillary thyroid microcarcinoma,” Radiology, vol. 253, no. 3, pp. 854–860, 2009. View at Publisher · View at Google Scholar · View at Scopus
  50. R. Elisei, D. Viola, L. Torregrossa et al., “The BRAFV600E 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,” Journal of Clinical Endocrinology and Metabolism, vol. 97, no. 12, pp. 4390–4398, 2012. View at Publisher · View at Google Scholar · View at Scopus
  51. G. M. Howell, S. P. Hodak, and L. Yip, “RAS mutations in thyroid cancer,” Oncologist, vol. 18, no. 8, pp. 926–932, 2013. View at Publisher · View at Google Scholar · View at Scopus