Assessment of molecular testing in fine-needle aspiration biopsy samples: An experience in a Chinese population

Experimental and Molecular Pathology

Volumn 97, Issue 2, 2014, Pages 292-297

  Liu, Shu ^a   Gao, Aibo ^a   Zhang, Bingfei ^a   Zhang, Zhaoxia ^a   Zhao, Yanru ^a   Chen, Pu ^a   Ji, Meiju ^a   Hou, Peng ^a   Shi, Bingyin ^a  

^a THE FIRST AFFILIATED HOSPITAL OF XI AN JIAOTONG UNIVERSITY   (China)

Author keywords

Chinese population; Fine needle aspiration biopsy; Genetic alterations; Thyroid nodules

Indexed keywords

B RAF KINASE; PROTEIN PATCHED; PROTEIN RET; RAS PROTEIN;

ARTICLE; BRAF GENE; CHINESE; CONTROLLED STUDY; CYTOLOGY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; FINE NEEDLE ASPIRATION BIOPSY; GENE; GENE MUTATION; GENE REARRANGEMENT; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; POINT MUTATION; PREDICTIVE VALUE; PTC GENE; PYROSEQUENCING; REAL TIME POLYMERASE CHAIN REACTION; RET GENE; SENSITIVITY AND SPECIFICITY; THYROID CARCINOMA; THYROID NODULE;

CHINESE POPULATION; FINE-NEEDLE ASPIRATION BIOPSY; GENETIC ALTERATIONS; THYROID NODULES;

BIOPSY, FINE-NEEDLE; CARCINOMA; CHINA; GTP PHOSPHOHYDROLASES; HUMANS; MEMBRANE PROTEINS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; PATHOLOGY, MOLECULAR; PREDICTIVE VALUE OF TESTS; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; PROTO-ONCOGENE PROTEINS C-RET; RAS PROTEINS; SEQUENCE ANALYSIS, DNA; THYROID NEOPLASMS; THYROID NODULE;

EID: 84910114012     PISSN: 00144800     EISSN: 10960945     Source Type: Journal    
DOI: 10.1016/j.yexmp.2014.08.005     Document Type: Article

References (44)

1. Bernet V., et al. AACE/ACE disease state commentary: molecular diagnostic testing of thyroid nodules with indeterminate cytopathology. Endocr. Pract. 2014, 20:360-363.
2. Bhaijee F., Nikiforov Y.E. Molecular analysis of thyroid tumors. Endocr. Pathol. 2011, 22:126-133.
3. Bongiovanni M., et al. The Bethesda System for Reporting Thyroid Cytopathology: a meta-analysis. Acta Cytol. 2012, 56:333-339.
4. Caria P., et al. Assessing RET/PTC in thyroid nodule fine-needle aspirates: the FISH point of view. Endocr. Relat. Cancer 2013, 20:527-536.
5. Cheung C.C., et al. Analysis of RET/PTC gene rearrangements refines the fine needle aspiration diagnosis of thyroid cancer. J. Clin. Endocrinol. Metab. 2001, 86:2187-2190.
6. Dal Maso L., et al. Incidence of thyroid cancer in Italy, 1991-2005: time trends and age-period-cohort effects. Ann. Oncol. 2011, 22:957-963.
7. Davies L., Welch H.G. Current thyroid cancer trends in the United States. JAMA Otolaryngol. Head Neck Surg. 2014, 140:317-322.
8. Esapa C.T., et al. Prevalence of Ras mutations in thyroid neoplasia. Clin. Endocrinol. (Oxf) 1999, 50:529-535.
9. Fenton C.L., et al. The RET/PTC mutations are common in sporadic papillary thyroid carcinoma of children and young adults. J. Clin. Endocrinol. Metab. 2000, 85:1170-1175.
10. Fukushima T., Takenoshita S. Roles of RAS and BRAF mutations in thyroid carcinogenesis. Fukushima J. Med. Sci. 2005, 51:67-75.
11. Gomez Saez J.M. Diagnostic usefulness of tumor markers in the thyroid cytological samples extracted by fine-needle aspiration biopsy. Endocr. Metab. Immune Disord. Drug Targets 2010, 10:47-56.
12. Guerra A., et al. The primary occurrence of BRAF(V600E) is a rare clonal event in papillary thyroid carcinoma. J. Clin. Endocrinol. Metab. 2012, 97:517-524.
13. Gupta N., et al. RAS mutations in thyroid FNA specimens are highly predictive of predominantly low-risk follicular-pattern cancers. J. Clin. Endocrinol. Metab. 2013, 98:E914-E922.
14. Howell G.M., et al. RAS mutations in thyroid cancer. Oncologist 2013, 18:926-932.
15. Jang E.K., et al. NRAS codon 61 mutation is associated with a distant metastasis in patients with follicular thyroid carcinoma. Thyroid 2014, 24:1275-1281.
16. Jhiang S.M. The RET proto-oncogene in human cancers. Oncogene 2000, 19:5590-5597.
17. Jhiang S.M., et al. Targeted expression of the RET/PTC1 oncogene induces papillary thyroid carcinomas. Endocrinology 1996, 137:375-378.
18. Jung C.K., et al. The increase in thyroid cancer incidence during the last four decades is accompanied by a high frequency of BRAF mutations and a sharp increase in RAS mutations. J. Clin. Endocrinol. Metab. 2014, 99:E276-E285.
19. Kimura E.T., 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, 63:1454-1457.
20. Lassalle S., et al. Clinical impact of the detection of BRAF mutations in thyroid pathology: potential usefulness as diagnostic, prognostic and theragnostic applications. Curr. Med. Chem. 2010, 17:1839-1850.
21. Lee S.R., et al. Molecular genotyping of follicular variant of papillary thyroid carcinoma correlates with diagnostic category of fine-needle aspiration cytology: values of RAS mutation testing. Thyroid 2013, 23:1416-1422.
22. Nikiforov Y.E. RET/PTC rearrangement in thyroid tumors. Endocr. Pathol. 2002, 13:3-16.
23. Nikiforov Y.E. RET/PTC rearrangement - a link between Hashimoto's thyroiditis and thyroid cancer... or not. J. Clin. Endocrinol. Metab. 2006, 91:2040-2042.
24. Nikiforov Y.E., Nikiforova M.N. Molecular genetics and diagnosis of thyroid cancer. Nat. Rev. Endocrinol. 2011, 7:569-580.
25. Nikiforov Y.E., et al. Molecular testing for mutations in improving the fine-needle aspiration diagnosis of thyroid nodules. J. Clin. Endocrinol. Metab. 2009, 94:2092-2098.
26. Nikiforova M.N., Nikiforov Y.E. Molecular diagnostics and predictors in thyroid cancer. Thyroid 2009, 19:1351-1361.
27. Nikiforova M.N., 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, 88:5399-5404.
28. Nikiforova M.N., et al. RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma. J. Clin. Endocrinol. Metab. 2003, 88:2318-2326.
29. Oyama T., et al. N-ras mutation of thyroid tumor with special reference to the follicular type. Pathol. Int. 1995, 45:45-50.
30. Pacini F., et al. RET proto-oncogene mutations in thyroid carcinomas: clinical relevance. J. Endocrinol. Invest. 2000, 23:328-338.
31. Park J.Y., et al. BRAF and RAS mutations in follicular variants of papillary thyroid carcinoma. Endocr. Pathol. 2013, 24:69-76.
32. Park S.J., et al. Application of BRAF, NRAS, KRAS mutations as markers for the detection of papillary thyroid cancer from FNAB specimens by pyrosequencing analysis. Clin. Chem. Lab. Med. 2013, 51:1673-1680.
33. Pierotti M.A., et al. Characterization of an inversion on the long arm of chromosome 10 juxtaposing D10S170 and RET and creating the oncogenic sequence RET/PTC. Proc. Natl. Acad. Sci. U. S. A. 1992, 89:1616-1620.
34. Popoveniuc G., Jonklaas J. Thyroid nodules. Med. Clin. North Am. 2012, 96:329-349.
35. Prior I.A., et al. A comprehensive survey of Ras mutations in cancer. Cancer Res. 2012, 72:2457-2467.
36. Salvatore G., 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, 89:5175-5180.
37. Santoro M., et al. Molecular characterization of RET/PTC3; a novel rearranged version of the RETproto-oncogene in a human thyroid papillary carcinoma. Oncogene 1994, 9:509-516.
38. Santoro M., et al. Development of thyroid papillary carcinomas secondary to tissue-specific expression of the RET/PTC1 oncogene in transgenic mice. Oncogene 1996, 12:1821-1826.
39. Vasko V., et al. Specific pattern of RAS oncogene mutations in follicular thyroid tumors. J. Clin. Endocrinol. Metab. 2003, 88:2745-2752.
40. Vasko V.V., et al. Thyroid follicular adenomas may display features of follicular carcinoma and follicular variant of papillary carcinoma. Eur. J. Endocrinol. 2004, 151:779-786.
41. Xing M. BRAF V600E mutation and papillary thyroid cancer - in reply. JAMA 2013, 310:534-535.
42. Xing M., 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, 89:2867-2872.
43. Yassa L., et al. Long-term assessment of a multidisciplinary approach to thyroid nodule diagnostic evaluation. Cancer 2007, 111:508-516.
44. Zhu Z., et al. Molecular profile and clinical-pathologic features of the follicular variant of papillary thyroid carcinoma. An unusually high prevalence of ras mutations. Am. J. Clin. Pathol. 2003, 120:71-77.