Detection of BRAF mutation on fine needle aspiration biopsy specimens: Diagnostic and clinical implications for papillary thyroid cancer

Acta Cytologica

Volumn 54, Issue 3, 2010, Pages 291-295

  Guo, Feifei ^a   Hou, Peng ^a   Shi, Bingyin ^a  

^a MEDICAL SCHOOL OF XI AN JIAOTONG UNIVERSITY   (China)

Author keywords

Aspiration biopsy; BRAF mutation; Direct DNA sequencing; Fine needle; Thyroid cancer

Indexed keywords

B RAF KINASE; GENOMIC DNA;

ADULT; AGED; ARTICLE; ASPIRATION BIOPSY; CANCER DIAGNOSIS; CHINA; CLINICAL ARTICLE; CYTOLOGY; DIAGNOSTIC ACCURACY; DNA EXTRACTION; DNA SEQUENCE; FEASIBILITY STUDY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; PREOPERATIVE PERIOD; PRIORITY JOURNAL; PROGNOSIS; SAMPLE; THYROID PAPILLARY CARCINOMA;

EID: 77953186560     PISSN: 00015547     EISSN: 19382650     Source Type: Journal    
DOI: 10.1159/000325037     Document Type: Article

References (35)

1. Hundahl SA, Fleming ID, Fremgen AM, Menck H: A National Cancer Data Base report on 53,856 cases of thyroid carcinoma treated in the U.S., 1985-1995 [see comments]. Cancer 1998;83:2638-2648
2. Paterson IC, Greenlee R, Adams Jones D: Thyroid cancer in Wales 1985-1996: A cancer registry-based study. Clin Oncol 1999;11:245-251
3. Vander JB, Gaston EA, Dawber TR: The significance of nontoxic thyroid nodules: Final report of a 15-year study of the incidence of thyroid malignancy. Ann Intern Med 1968;69:537-540
4. Tunbridge WM, Evered DC, Hall R, Appleton D, Brewis M, Clark F, Evans JG, Young E, Bird T, Smith PA: The spectrum of thyroid disease in a community: The Whickham survey. Clin Endocrinol 1977;7:481-493 (Pubitemid 8235965)
5. Hegedüs L: Clinical practice: The thyroid nodule. N Engl J Med 2004;351:1764-1771
6. Gharib H, Goellner JR: Fine-needle aspiration biopsy of the thyroid: An appraisal. Ann Intern Med 1993;118:282-289 (Pubitemid 23046388)
7. Busseniers AE, Oertel YC: "Cellular adenomatoid nodules" of the thyroid: Review of 219 fine-needle aspirates. Diagn Cytopathol 1993;9:581-589
8. Cap J, Ryska A, Rehorkova P, Hovorkova E, Kerekes Z, Pohnetalova D: Sensitivity and specificity of the fine needle aspiration biopsy of the thyroid: Clinical point of view. Clin Endocrinol 1999;51:509-515
9. Haugen BR, Woodmansee WW, McDermott MT: Towards improving the utility of fine-needle aspiration biopsy for the diagnosis of thyroid tumours. Clin Endocrinol 2002;56:281-290
10. Oertel YC: A pathologist trying to help endocrinologists to interpret cytopathology reports from thyroid aspirates. J Clin Endocrinol Metab 2002;87:1459-1461
11. Oertel YC, Burman K, Boyle L, Ringel M, Wartofsky L, Shmookler B, Yeganeh F, Van Nostrand D: Integrating fine-needle aspiration into a daily practice involving thyroid disorders: The Washington Hospital Center approach. Diagn Cytopathol 2002;27:120-122
12. Sclabas GM, Staerkel GA, Shapiro SE, Fornage BD, Sherman SI, Vassillopoulou-Sellin R, Lee JE, Evans D: Fine-needle aspiration of the thyroid and correlation with histopathology in a contemporary series of 240 patients. Am J Surg 2003;186:702-709
13. Knauf JA, Ma X, Smith EP, Zhang L, Mitsutake N, Liao XH, Refetoff S, Nikiforov YE, Fagin JA: Targeted expression of BRAFV600E in thyroid cells of transgenic mice results in papillary thyroid cancers that undergo dedifferentiation. Cancer Res 2005;65:4238-4245
14. Xing M: BRAF mutation in papillary thyroid cancer: Pathogenic role, molecular bases, and clinical implications. Endocr Rev 2007;28:742-762
15. Wan PT, Garnett MJ, Roe SM, Lee S, Niculescu-Duvaz D, Good VM, Jones CM, Marshall CJ, Springer CJ, Barford D, Marais R, Cancer Genome Project: Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Cell 2004;116:855-867
16. Kimura ET, Nikiforova MN, Zhu Z, Knauf JA, Nikiforov YE, Fagin JA: 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 2003;63:1454-1457 (Pubitemid 36373628)
17. Fukushima T, Suzuki S, Mashiko M, Ohtake T, Endo Y, Takebayashi Y, Sekikawa K, Hagiwara K, Takenoshita S: BRAF mutations in papillary carcinomas of the thyroid. Oncogene 2003;22:6455-6457
18. Cohen Y, Xing M, Mambo E, Guo Z, Wu G, Trink B, Beller U, Westra WH, Ladenson PW, Sidransky D: BRAF mutation in papillary thyroid carcinoma. J Natl Cancer Inst 2003;95:625-627 (Pubitemid 36553510)
19. Namba H, Nakashima M, Hayashi T, Hayashida N, Maeda S, Rogounovitch TI, Ohtsuru A, Saenko VA, Kanematsu T, Yamashita S: Clinical implication of hot spot BRAF mutation, V599E, in papillary thyroid cancers. J Clin Endocrinol Metab 2003;88:4393-4397
20. Nikiforova MN, Kimura ET, Gandhi M, Biddinger PW, Knauf JA, Basolo F, Zhu Z, Giannini R, Salvatore G, Fusco A, Santoro M, Fagin JA, Nikiforov YE: BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas. J Clin Endocrinol Metab 2003;88:5399-5404
21. Soares P, Trovisco V, Rocha AS, Lima J, Castro P, Preto A, Máximo V, Botelho T, Seruca R, Sobrinho-Simões M: BRAF mutations and RET/PTC rearrangements are alternative events in the etiopathogenesis of PTC. Oncogene 2003;22:4578-4580
22. Xu X, Quiros RM, Gattuso P, Ain KB, Prinz RA: High prevalence of BRAF gene mutation in papillary thyroid carcinomas and thyroid tumor cell lines. Cancer Res 2003;63:4561-4567 (Pubitemid 36951030)
23. Xing M, Vasko V, Tallini G, Larin A, Wu G, Udelsman R, Ringel MD, Ladenson PW, Sidransky D: BRAF T1796A transversion mutation in various thyroid neoplasms. J Clin Endocrinol Metab 2004;89:1365-1368
24. Xing M, Tufano RP, Tufaro AP, Basaria S, Ewertz M, Rosenbaum E, Byrne PJ, Wang J, Sidransky D, Ladenson PW: Detection of BRAF mutation on fine needle aspiration biopsy specimens: A new diagnostic tool for papillary thyroid cancer. J Clin Endocrinol Metab 2004;89:2867-2872
25. Salvatore G, Giannini R, Faviana P, Caleo A, Migliaccio I, Fagin JA, Nikiforov YE, Troncone G, Palombini L, Basolo F, Santoro M: Analysis of BRAF point mutation and RET/PTC rearrangement refines the fine-needle aspiration diagnosis of papillary thyroid carcinoma. J Clin Endocrinol Metab 2004;89:5175-5180
26. Hayashida N, Namba H, Kumagai A, Hayashi T, Ohtsuru A, Ito M, Saenko VA, Maeda S, Kanematsu T, Yamashita S: A rapid and simple detection method for the BRAF(T1796A) mutation in fine-needle aspirated thyroid carcinoma cells. Thyroid 2004;14:910-915 (Pubitemid 39612909)
27. Jin L, Sebo TJ, Nakamura N, Qian X, Oliveira A, Majerus JA, Johnson MR, Lloyd B: BRAF mutation analysis in fine needle aspiration (FNA) cytology of the thyroid. Diagn Mol Pathol 2006;15:136-143
28. Kumagai A, Namba H, Akanov Z, Saenko VA, Meirmanov S, Ohtsuru A, Yano H, Maeda S, Anami M, Hayashi T, Ito M, Sagandikova S, Eleubaeva Z, Mussinov D, Espenbetova M, Yamashita S: Clinical implications of pre-operative rapid BRAF analysis for papillary thyroid cancer. Endocrine J 2007;54:399-405
29. Sapio MR, Posca D, Raggioli A, Guerra A, Marotta V, Deandrea M, Motta M, Limone PP, Troncone G, Caleo A, Rossi G, Fenzi G, Vitale M: Detection of RET/PTC, TRK and BRAF mutations in preoperative diagnosis of thyroid nodules with indeterminate cytological findings. Clin Endocrinol 2007;66:678-683
30. Jo YS, Huang S, Kim YJ, Lee IS, Kim SS, Kim JR, Oh T, Moon Y, An S, Ro HK, Kim JM, Shong M: Diagnostic value of pyrosequencing for the BRAF V600E mutation in ultrasound-guided fine-needle aspiration biopsy samples of thyroid incidentalomas. Clin Endocrinol (Oxf) 2009;70:139-144
31. Schmitt FC: Thyroid cytology: FNA is still the best diagnostic approach. Cytopathology 2006;17:211-212
32. Ringel MD: Molecular diagnostic tests in the diagnosis and management of thyroid carcinoma. Rev Endocr Metab Disord 2000;1:173-181
33. Moretti F, Nanni S, Pontecorvi A: Molecular pathogenesis of thyroid nodules and cancer. Baillieres Best Pract Res Clin Endocrinol Metab 2000;14:517-539
34. Elisei R, Romei C, Vorontsova T, Cosci B, Veremeychik V, Kuchinskaya E, Basolo F, Demidchik EP, Miccoli P, Pinchera A, Pacini F: RET/PTC rearrangements in thyroid nodules: Studies in irradiated and not irradiated, malignant and benign thyroid lesions in children and adults. J Clin Endocrinol Metab 2001;86:3211-3216
35. Cheung L, Messina M, Gill A, Clarkson A, Learoyd D, Delbridge L, Wentworth J, Philips J, Clifton-Bligh R, Robinson BG: Detection of the PAX8-PPAR gamma fusion oncogene in both follicular thyroid carcinomas and adenomas. J Clin Endocrinol Metab 2003;88:354-357