Asian Pacific Journal of Cancer Prevention

Asian Pacific Journal of Cancer Prevention (아시아태평양암예방학회)
권호 표지
DOI QR코드

DOI QR Code

Surgical Perspective of T1799A BRAF Mutation Diagnostic Value in Papillary Thyroid Carcinoma

  • Brahma, Bayu (Department of Surgical Oncology, Dharmais National Cancer Center, Universitas Indonesia) ;
  • Yulian, Erwin Danil (Department of Surgical Oncology, Universitas Indonesia) ;
  • Ramli, Muchlis (Department of Surgical Oncology, Universitas Indonesia) ;
  • Setianingsih, Iswari (Eijkman Institute for Molecular Biology, Universitas Indonesia) ;
  • Gautama, Walta (Department of Surgical Oncology, Dharmais National Cancer Center, Universitas Indonesia) ;
  • Brahma, Putri (Center for Clinical Epidemiology and Evidence-Based Medicine, Universitas Indonesia) ;
  • Sastroasmoro, Sudigdo (Center for Clinical Epidemiology and Evidence-Based Medicine, Universitas Indonesia) ;
  • Harimurti, Kuntjoro (Center for Clinical Epidemiology and Evidence-Based Medicine, Universitas Indonesia)
  • Published : 2013.01.31
Download PDF
⟨ Previous Next ⟩

Abstract

Background: Throughout Indonesia, thyroid cancer is one of the ten commonest malignancies, with papillary thyroid carcinoma (PTC) in our hospital accounting for about 60% of all thyroid nodules. Although fine needle aspiration biopsy (FNAB) is the most reliable diagnostic tool, some nodules are diagnosed as indeterminate and second surgery is common for PTC. The aim of this study was to establish the diagnostic value and feasibility of testing the BRAF T1799A mutation on FNA specimens for improving PTC diagnosis. Materials and Methods: This prospective study enrolled 95 patients with thyroid nodules and future surgery planned. Results of mutational status were compared with surgical pathology diagnosis. Results: Of the 70 cases included in the final analysis, 62.8% were PTC and the prevalence of BRAF mutation was 38.6%. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for BRAF mutation analysis were 36%, 100%, 100% and 48%, respectively. With other data findings, nodules with "onset less than 5 year" and "hard consistency" were proven as diagnostic determinants for BRAF mutation with a probability of 62.5%. This mutation was also a significant risk factor for extra-capsular extension. Conclusions: Molecular analysis of the BRAF T1799A mutation in FNAB specimens has high specificity and positive predictive value for PTC. It could be used in the selective patients with clinical characteristics to facilitate PTC diagnosis and for guidance regarding extent of thyroidectomy.

Keywords

References

  1. Cancer Statistics Review 1975-2007: Introduction. US: Surveillance Epidemiology and End Results (2010). [cited 2010 June 20]. Available from: http://seer.cancer.gov/csr/1975_2007/results_figure/sect_01_intro1_7pgs.pdf
  2. Cibas ES (2010). Fine-needle aspiration in the work-up of thyroid nodules. Otolaryngol Clin N Am, 43, 257-71. https://doi.org/10.1016/j.otc.2010.01.003
  3. Enewold L, Zhu K, Ron E, et al (2009). Rising thyroid cancer incidence in the United States by demographic and tumor characteristics, 1980-2005. Cancer Epidemiol Biomarkers Prev, 18, 784-91. https://doi.org/10.1158/1055-9965.EPI-08-0960
  4. Eszlinger M, Paschke R (2010). Molecular fine-needle aspiration biopsy diagnosis of thyroid nodules by tumor specific mutations and gene expression patterns. Molecular and Cellular Endocrinology, 1, 1-9.
  5. Guan H, Ji M, Bao R, et al (2009). Association of high iodine intake with the T1799A BRAF mutation in papillary thyroid cancer. J Clin Endocrinol Metab, 94, 1612-7. https://doi.org/10.1210/jc.2008-2390
  6. Handkiewicz-Junak D, Czarniecka A, Jarzab B (2010). Molecular prognostic markers in papillary and follicular thyroid cancer: current status and future directions. Mol Cell Endocrinol, 1, 1-21.
  7. Hayashida N, Namba H, Kumagai A, et al (2004). A rapid and simple detection method for the BRAFT1799A mutation in fine-needle aspirated thyroid carcinoma cells. Thyroid, 14, 910-5. https://doi.org/10.1089/thy.2004.14.910
  8. Howell GM, Nikiforova MN, Carty SE, et al (2012). BRAF V600E mutation independently predicts central compartment lymph node metastasis in patients with papillary thyroid cancer. Ann Surg Oncol, 10, 2611.
  9. Kato MA, Fahey TJ (2009). Molecular markers in thyroid cancer diagnostics. Surg Clin N Am, 89, 1139-55. https://doi.org/10.1016/j.suc.2009.06.012
  10. Kebebew E, Weng J, Bauer J, et al (2007). The prevalence and prognostic value of BRAF mutation in thyroid cancer. Ann Surg, 246, 466-71. https://doi.org/10.1097/SLA.0b013e318148563d
  11. Kim SW, Lee JI, Kim JW, et al (2010). BRAFV600E mutation analysis in fine-needle apiration cytology specimens for evaluation of thyroid nodule: a large series in a BRAFV600E-prevalent population. J Clin Endocrinol Metab, 95, 3793-800.
  12. Knauf JA, Ma X, Smith EP (2005). Targeted expression of BRAFV600E in thyroid cells of transgenic mice results in papillary thyroid cancers that undergo dedifferentiation. Cancer Res, 65, 4238-45. https://doi.org/10.1158/0008-5472.CAN-05-0047
  13. Li C, Lee KC, Schneider EB, et al (2012). BRAF V600E mutation and its association with clinicopathological features of papillary thyroid cancer: a meta-analysis. J Clin Endocrinol Metab, 97.
  14. Nikiforov YE (2008). Thyroid carcinoma: molecular pathways and therapeutic targets. Modern Pathol, 21, 38-43.
  15. Nikiforov YE, Steward DL, Robinson-Smith TM, et al (2009). Molecular testing for mutations in improving the fine-needle aspiration diagnosis of thyroid nodules. J Clin Endocrinol Metab, 94, 2092-8. https://doi.org/10.1210/jc.2009-0247
  16. Nikiforova MN, Nikiforov YE (2009). Molecular diagnostics and predictors in thyroid cancer. Thyroid, 19, 1361-61.
  17. Sapio MR, Guerra A, Posca D, et al (2007). Combined analysis of galectin-3 and BRAFV600E improves the accuracy of fineneedle aspiration biopsy with cytological findings suspicious for papillary thyroid carcinoma. Endocrine-Related Cancer, 14, 1089-97. https://doi.org/10.1677/ERC-07-0147
  18. So KY, Son Y, Park JY, et al (2011). Preoperative BRAF mutation has different predictive values for lymph node metastasis according to tumor size. Otolaryngol Head Neck Surg, 145, 422-27. https://doi.org/10.1177/0194599811404649
  19. Tee YY, Lowe AJ, Brand CA, Judson RT (2007). Fine-needle aspiration may miss a third of all malignancy in palpable thyroid nodules. Ann Surg, 246, 714-20. https://doi.org/10.1097/SLA.0b013e3180f61adc
  20. Tjindarbumi D, Mangunkusumo R (2002). Cancer in Indonesia, present and future. Jpn J Clin Oncol, 33, 17-21.
  21. Wartofsky L (2010). Increasing world incidence of thyroid cancer: increased detection or higher radiation exposure? Hormones, 9, 103-8. https://doi.org/10.14310/horm.2002.1260
  22. Xing M (2007). BRAF mutation in papillary thyroid cancer: pathogenic role, molecular bases, and clinical implications. Endocrine Reviews, 29, 742-62.
  23. Xing M (2009). Prognostic utility of BRAF mutation in papillary thyroid cancer. Mol Cell Endrocinol, 10, 1-8.
  24. Xing M, Tufano RP, Tufaro AP, et al (2004). Detection of BRAF mutation on fine needle aspiration biopsy specimens: a new diagnostic tool for papillary thyroid cancer. J Clin Endocrinol Metab, 89, 2867-72. https://doi.org/10.1210/jc.2003-032050
  25. Xing M, Westra WH, Tufano RP et al (2005). BRAF mutation predicts a poorer clinical prognosis for papillary thyroid cancer. J Clin Endocrinol Metab, 90, 6383-9.
  26. Xing M, Clark D, Guan H, et al (2009). BRAF mutation testing of thyroid fine-needle aspiration biopsy specimens for preoperative risk stratification in papillary thyroid cancer. J Clin Oncol, 28, 3077-82.
  27. Yip L, Nikiforova MN, Carty SE, et al (2009). Optimizing surgical treatment of papillary thyroid carcinoma associated with BRAF mutation. Surgery, 146, 1215-23. https://doi.org/10.1016/j.surg.2009.09.011
  28. Zatelli MC, Trasforini G, Leoni S, et al (2009). BRAF V600E mutation analysis increases diagnostic accuracy for papillary thyroid carcinoma in fine-needle aspiration biopsies. Eur J Endocrinology, 161, 467-73. https://doi.org/10.1530/EJE-09-0353

Cited by

  1. Elevated Expression of Nuclear Protein Kinase CK2α as a Poor Prognosis Indicator in Lymph Node Cancerous Metastases of Human Thyroid Cancers vol.15, pp.17, 2014, https://doi.org/10.7314/APJCP.2014.15.17.7425
  2. Associations of the BRAF (V600E) mutation and p53 protein expression with clinicopathological features of papillary thyroid carcinomas patients pp.1792-1082, 2015, https://doi.org/10.3892/ol.2015.3401
  3. Clinical impact of BRAF mutation on the diagnosis and prognosis of papillary thyroid carcinoma: a systematic review and meta-analysis vol.46, pp.2, 2016, https://doi.org/10.1111/eci.12577