Detection of BRAF V600E activating mutation in papillary thyroid carcinoma using PCR with allele-specific fluorescent probe melting curve analysis

Journal of Clinical Pathology

Volumn 60, Issue 11, 2007, Pages 1211-1215

  Rowe, Leslie R ^b   Bentz, Brandon G ^a   Bentz, Joel S ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; GENOMIC DNA;

ALLELE; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FLUORESCENCE; GENE AMPLIFICATION; GENE MUTATION; HISTOLOGY; HUMAN; HUMAN TISSUE; NUCLEOTIDE SEQUENCE; PAPILLARY CARCINOMA; POINT MUTATION; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; THYROID CARCINOMA;

ALLELES; BASE SEQUENCE; CARCINOMA, PAPILLARY; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FLUORESCENT DYES; HUMANS; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS B-RAF; RETROSPECTIVE STUDIES; THYROID NEOPLASMS;

EID: 36049026566     PISSN: 00219746     EISSN: None     Source Type: Journal    
DOI: 10.1136/jcp.2006.040105     Document Type: Article

References (38)

1. Sherman SI. Thyroid carcinoma. Lancet 2003;361:501- 11.
2. Davies L, Welch HG. Increasing incidence of thyroid cancer in the United States, 1973-2002. JAMA 2006;295:2164-7.
3. Gilliland FD, Hunt WC, Morris DM, et al. Prognostic factors for thyroid carcinoma. A population-based study of 15,698 cases from the Surveillance, Epidemiology and End Results (SEER) program 1973-1991. Cancer 1997;79:564-73.
4. Franceschi S, Boyle P, Maisonneuve P, et al. The epidemiology of thyroid carcinoma. Crit Rev Oncog 1993;4:25-52.
5. Trovisco V, Vieira de Castro I, Soares P, et al. BRAF mutations are associated with some histological types of papillary thyroid carcinoma. J Pathol 2004;202:247-51.
6. Kim KH, Kang DW, Kim SH, et al. Mutations of the BRAF gene in papillary thyroid carcinoma in a Korean population. Yonsei Med J 2004;45:818-21.
7. Nikiforova MN, Kimura ET, Gandhi M, et al. 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;88:5399-404.
8. Fukushima T, Suzuki S, Mashiko M, et al. BRAF mutations in papillary carcinomas of the thyroid. Oncogene 2003;22:6455-7.
9. Namba H, Nakashima M, Hayashi T, et al. Clinical implication of hot spot BRAF mutation, V599E, in papillary thyroid cancers. J Clin Endocrinol Metab 2003;88:4393-7.
10. Xu X, Quiros RM, Gattuso P, et al. High prevalence of BRAF gene mutation in papillary thyroid carcinomas and thyroid tumor cell lines. Cancer Res 2003;63:4561-7.
11. Soares P, Trovisco V, Rocha AS, et al. BRAF mutations and RET/PTC rearrangements are alternative events in the etiopathogenesis of PTC. Oncogene 2003;22:4578-80.
12. Cohen Y, Xing M, Mambo E, et al. BRAF mutation in papillary thyroid carcinoma. J Natl Cancer Inst 2003;95:625-7.
13. Kimura ET, Nikiforova MN, Zhu Z, 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 2003;63:1454-7.
14. Xing M, Vasko V, Tallini G, et al. BRAF T1796A transversion mutation in various thyroid neoplasms. J Clin Endocrinol Metab 2004;89:1365-8.
15. Xing M, Usadel H, Cohen Y, et al. Methylation of the thyroid-stimulating hormone receptor gene in epithelial thyroid tumors: a marker of malignancy and a cause of gene silencing. Cancer Res 2003;63:2316-21.
16. Frattini M, Ferrario C, Bressan P, et al. Alternative mutations of BRAF, RET and NTRK1 are associated with similar but distinct gene expression patterns in papillary thyroid cancer. Oncogene 2004;23:7436-40.
17. Fugazzola L, Mannavola D, Cirello V, et al. BRAF mutations in an Italian cohort of thyroid cancers. Clin Endocrinol (Oxf) 2004;61:239-43.
18. Puxeddu E, Moretti S, Elisei R, et al. BRAF(V599E) mutation is the leading genetic event in adult sporadic papillary thyroid carcinomas. J Clin Endocrinol Metab 2004;89:2414-20.
19. Penko K, Livezey J, Fenton C, et al. BRAF mutations are uncommon in papillary thyroid cancer of young patients. Thyroid 2005;15:320-5.
20. Salvatore G, Giannini R, Faviana P, et al. Analysis of BRAF point mutation and RET/PTC rearrangement refines the fine-needle aspiration diagnosis of papillary thyroid carcinoma. J Clin Endocrinol Metab 2004;89:5175-80.
21. Sedliarou I, Saenko V, Lantsov D, et al. The BRAFT1796A transversion is a prevalent mutational event in human thyroid microcarcinoma. Int J Oncol 2004;25:1729-35.
22. Vasil'ev EV, Rumiantsev PO, Saenko VA, et al. [Molecular analysis of structural abnormalities in papillary thyroid carcinoma gene]. Mol Biol (Mosk) 2004;38:642-53.
23. Perren A, Schmid S, Locher T, et al. BRAF and endocrine tumors: mutations are frequent in papillary thyroid carcinomas, rare in endocrine tumors of the gastrointestinal tract and not detected in other endocrine tumors. Endocr Relat Cancer 2004;11:855-60.
24. Hayashida N, Namba H, Kumagai A, et al. A rapid and simple detection method for the BRAF(T1796A) mutation in fine-needle aspirated thyroid carcinoma cells. Thyroid 2004;14:910-15.
25. Kumar R, Angelini S, Czene K, et al. BRAF mutations in metastatic melanoma: a possible association with clinical outcome. Clin Cancer Res 2003;9:3362-8.
26. Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature 2002;417:949-54.
27. Xing M, Tufano RP, Tufaro AP, et al. Detection of BRAF mutation on fine needle aspiration biopsy specimens: a new diagnostic tool for papillary thyroid cancer. J Clin Endocrinol Metab 2004;89:2867-72.
28. Trovisco V, Soares P, Preto A, et al. Type and prevalence of BRAF mutations are closely associated with papillary thyroid carcinoma histotype and patients' age but not with tumour aggressiveness. Virchows Arch 2005;446:589-95.
29. Liu RT, Chen YJ, Chou FF, et al. No correlation between BRAFV600E mutation and clinicopathological features of papillary thyroid carcinomas in Taiwan. Clin Endocrinol (Oxf) 2005;63:461-6.
30. Kim TY, Kim WB, Song JY, et al. The BRAF mutation is not associated with poor prognostic factors in Korean patients with conventional papillary thyroid microcarcinoma. Clin Endocrinol (Oxf) 2005;63:588-93.
31. Rowe LR, Bentz BG, Bentz JS. Utility of BRAF V600E mutation detection in cytologically indeterminate thyroid nodules. Cytojournal 2006;3(1):10.
32. Segev DL, Clark DP, Zeiger MA, et al. Beyond the suspicious thyroid fine needle aspirate. A review. Acta Cytol 2003;47:709- 22.
33. Sapio MR, Posca D, Troncone G, et al. Detection of BRAF mutation in thyroid papillary carcinomas by mutant allele-specific PCR amplification (MASA). Eur J Endocrinol 2006;154:341-8.
34. Lloyd RV, Erickson LA, Casey MB, et al. Observer variation in the diagnosis of follicular variant of papillary thyroid carcinoma. Am J Surg Pathol 2004;28:1336-40.
35. Strumberg D, Richly H, Hilger RA, et al. Phase I clinical and pharmacokinetic study of the Novel Raf kinase and vascular endothelial growth factor receptor inhibitor BAY 43-9006 in patients with advanced refractory solid tumors. J Clin Oncol 2005;23:965-72.
36. Karasarides M, Chiloeches A, Hayward R, et al. B-RAF is a therapeutic target in melanoma. Oncogene 2004;23:6292-8.
37. Ahmad T, Eisen T. Kinase inhibition with BAY 43-9006 in renal cell carcinoma. Clin Cancer Res 2004;10(18 Pt 2):6388S-92S.
38. NCI. Phase II study of sorafenib (BAY 43-9006) in patients with locally advanced, metastatic or locally recurrent differentiated thyroid cancer; CDR0000393968; OSU-0441; OSU-2004C0068; NCI-6608; NCT00095693, National Cancer Institute, 2005.