BRAFV600E mutation in papillary thyroid carcinoma: Significant association with node metastases and extra thyroidal invasion

Endocrine Pathology

Volumn 23, Issue 2, 2012, Pages 83-93

  Chakraborty, Avik ^a   Narkar, Archana ^a   Mukhopadhyaya, Rita ^b   Kane, Shubhada ^a   D'Cruz, Anil ^a   Rajan, M G R ^a  

^a TATA MEMORIAL HOSPITAL   (India)

^b BHABHA ATOMIC RESEARCH CENTRE   (India)

Author keywords

BRAF mutation; Extra thyroidal invasion; Lymph node metastases; Thyroid carcinoma

Indexed keywords

B RAF KINASE; GLUTAMIC ACID; VALINE;

ADULT; ARTICLE; BRAF GENE; CANCER CELL CULTURE; CANCER INVASION; CANCER LOCALIZATION; CANCER PROGNOSIS; CANCER STAGING; CLINICAL FEATURE; DISEASE ASSOCIATION; DNA SEQUENCE; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC CORRELATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; LYMPH NODE METASTASIS; MALE; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; ONCOGENE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SOMATIC MUTATION; START CODON; THYROID CARCINOMA;

ADENOCARCINOMA, FOLLICULAR; ADENOCARCINOMA, PAPILLARY; ADENOMA; ADULT; CARCINOMA, MEDULLARY; CELL LINE, TUMOR; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FEMALE; HUMANS; HYPERPLASIA; LYMPH NODES; LYMPHATIC METASTASIS; MALE; MIDDLE AGED; MUTATION; NEOPLASM INVASIVENESS; NEOPLASM STAGING; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTO-ONCOGENE PROTEINS B-RAF; THYROID NEOPLASMS;

EID: 84864848268     PISSN: 10463976     EISSN: 15590097     Source Type: Journal    
DOI: 10.1007/s12022-011-9184-5     Document Type: Article

References (39)

1. Gimm O, Thyroid Cancer. Cancer Letter 163:143-156, 2001
2. Hundahl SA, Fleming ID, Fremgen AM, Menck HR. A National Cancer Data Base report on 53, 856 cases of thyroid carcinoma treated in the USA, 1985-1995. Cancer 83:2638-2648, 1998
3. Paterson IC, Greenlee R, Adams Jones D. Thyroid cancer in Wales, 1985-1996: a cancer registry-based study. Clin Oncol (R Coll Radiol) 11:245-251, 1999
4. Nikiforov YE. RET/PTC rearrangement in thyroid tumors. Endocrine Pathology 13:3-16, 2002
5. Santoro M, Melillo RM, Carlomagno F, Fusco A & Vecchio G. Molecular mechanisms of RET activation in human cancer. Annals of the New York Academy of Sciences 963: 116-121, 2002
6. Giordano TJ, Kuick R, Thomas DG, Misek DE, Vinco M, Sanders D, Zhu Z, Ciampi R, Roh M, Shedden K et al. Molecular classification of papillary thyroid carcinoma: distinct BRAF, RAS, and RET/PTC mutation specific gene expression profiles discovered by DNA microarray analysis. Oncogene 24: 6646-6656, 2005
7. Xing M, BRAF Mutation in Thyroid Cancer. Endocr Rela Cancer 12:245-262, 2005
8. Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W et al. Mutations of the BRAF gene in human cancer. Nature (Lond) 417: 949-954, 2002
9. Kim KH, Kang DW, Kim SH, Seong I O & Kang DY. Mutations of the BRAF gene in papillary thyroid carcinoma in a Korean population. Yonsei Medical Journal 45:818-821, 2004
10. 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 Endo and Metab 88:4393-4397, 2003
11. 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 Endo and Metab 489:2867-2872, 2004
12. Jin L, Sebo TJ, Nakamura N, Qian X, Oliveira A, Majerus JA, Johnson MR, Lloyd RV. BRAF mutation analysis in fine needle aspiration (FNA) cytology of the thyroid. Diagn Mol Pathol 15:136-143, 2006
13. Chung KW, Yang SK, Lee GK, Kim EY, Kwon S, Lee SH, Park do J, Lee HS, Cho BY, Lee ES, Kim SW. Detection of BRAFV600E mutation on fine needle aspiration specimens of thyroid nodule refines cyto-pathology diagnosis, especially in BRAF600E mutation-prevalent area. Clin Endocrinol (Oxf) 65:660-666, 2006
14. Kebebew E, Weng J, Bauer J, Ranvier G, Clark OH, Duh QY, Shibru D, Bastian B, Griffin A. The prevalence and prognostic value of BRAF mutation in thyroid cancer. Ann Surg 246:466-471, 2007
15. Kim TY, Kim WB, Rhee YS, Song JY, Kim JM, Gong G, Lee S, Kim SY, Kim SC, Hong SJ, ShongYK. The BRAF mutation is useful for prediction of clinical recurrence in low-risk patients with conventional papillary thyroid carcinoma. Clin Endocrinol (Oxf) 65:364-368, 2006
16. Xing M, Westra WH, Tufano RP, Cohen Y, Rosenbaum E, Rhoden KJ et al. BRAF mutation predicts a poorer clinical prognosis for papillary thyroid cancer. J Clin Endocrinol Metab 90:6373-6379, 2005
17. Lee JH, Lee ES & Kim YS. Clinicopathologic significance of BRAF V600E mutation in papillary carcinomas of the thyroid: a meta-analysis. Cancer 110:38-46, 2007
18. Xing M. BRAF mutation in papillary thyroid cancer: pathogenic role, molecular bases, and clinical implications. Endocrine Reviews 28 742-762, 2007
19. Frasca F, Nucera C, Pellegriti G et al. BRAF (V600E) mutation and the biology of papillary thyroid cancer. Endo Rel Can 15:191-205, 2008
20. Yeole BB. Descriptive epidemiology of thyroid cancer in greater Bombay. Indian J Cancer 35(2):57-64, 1998
21. 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. Can Res 63:1454-1457, 2003
22. 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 of Endocrinol 154:341-348, 2006
23. Saldanha G, Purnell D, Fletcher A et al. High BRAF mutation frequency does not characterize all melanocytic tumor types. Int J Cancer 111:705-710, 2004
24. Cohen NG, Cohen Y, Rosenbaum E, et al. T1799A BRAF Mutations in Conjunctival Melanocytic Lesions. Investigative Ophthalmology & Visual Science 46: 3027-3032, 2005
25. Cheng S, Serra S, Mercado M, Ezzat S, Asa SL. A high-throughput proteomic approach provides distinct signatures for thyroid cancer behavior. Clin Cancer Res 17(8):2385-94, 2011
26. Mathur A, Moses W, Rahbari R, Khanafshar E, Duh QY, Clark O, Kebebew E. Higher rate of BRAF mutation in papillary thyroid cancer over time: A single-institution study. Cancer 117 (19):4390-5, 2011
27. Garnett MJ, Marais R. Guilty as charged: B-RAF is a human oncogene. Cancer Cell 6:313-319, 2004
28. Kondo T, Ezzat S and Asa SL. Pathogenetic mechanisms in thyroid follicular-cell neoplasia, Nature Reviews 6:292-306, 2006
29. Vaillancourt RR, Gardner AM AND Johnson GL. B-Raf-Dependent Regulation of the MEK-1/Mitogen-Activated Protein Kinase Pathway in PC12 Cells and Regulation by Cyclic AMP. Mol and Cell Bio 14: 6522-6530, 1994
30. Fugazzola L, Puxeddu E, Avenia N et al. Correlation between B-RAF V600E mutation and clinico-pathologic parameters in papillary thyroid carcinoma: data from a multicentric Italian study and review of the literature. Endo Rel Can 13:455-464, 2006
31. Frattini M, Ferrario C, Bressan P, Balestra D, De Cecco L, Mondellini P, Bongarzone I, Collini P, Gariboldi M, Pilotti S et al. Alternative mutations of BRAF, RET and NTRK1 are associated with similar but distinct gene expression patterns in papillary thyroid cancer. Oncogene 23:7436-7740, 2004
32. 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 Endo & Metab 88 (11): 5399-5404, 2003
33. Soares P, Trovisco V, Rocha AS, Feijao T, Rebocho AP et al. BRAF mutations typical of papillary thyroid carcinoma are more frequently detected in undifferentiated than in insular and insular-like poorly differentiated carcinomas. Vi rc h o w s A rc h i v 444 572-576, 2004
34. Puxeddu E, Moretti S, Elisei R, et al. BRAFV599E mutation is the leading genetic event in adult sporadic papillary thyroid carcinomas. J Clin Endo & Metab 89(5):2414-2420, 2004
35. Soares P, Trovisco V, Rocha AS, Lima J, Castro P et al. BRAF mutations and RET/PTC rearrangements are alternative events in the etiopathogenesis of PTC. Oncogene 22:4578-4580, 2003
36. Nikiforova MN, Ciampi R, Salvatore G, Santoro M, Gandhi M, et al. Low prevalence of BRAF mutations in radiation-induced thyroid tumors in contrast to sporadic papillary carcinomas. Cancer Letters 209:1-6, 2004
37. Michels JJ, Jacques M, Amar MH, Bardet S. Prevalence and prognostic significance of tall cell variant of papillary thyroid carcinoma. Human Pathology 38, 212-219, 2007
38. Knauf JA, Ma X, Smith EP, Zhang L, Mitsutake N et al. Targeted expression of BRAFV600E in thyroid cells of transgenic mice results in papillary thyroid cancers that undergo dedifferentiation. Cancer Res 65(10):4238-4245, 2005
39. King A J, Patrick D R, Batorsky R S et al. Demonstration of a genetic therapeutic index for tumors expressing oncogenic BRAF by the kinase inhibitor SB-590885. Cancer Res 66 (23):11100-11105, 2006