Cytologic and molecular diagnosis of thyroid cancers is it time for routine reflex testing?

Cancer Cytopathology

Volumn 120, Issue 1, 2012, Pages 7-17

  Hassell, Lewis A ^a   Gillies, Elizabeth M ^a   Dunn, S Terence ^a  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

Author keywords

BRAF; Cancer; FNA; Molecular diagnosis; Ras; RET; Thyroid

Indexed keywords

MOLECULAR MARKER;

ANAPLASTIC CARCINOMA; CANCER RISK; DIAGNOSTIC TEST; FINE NEEDLE ASPIRATION BIOPSY; GENE REARRANGEMENT; GENETIC ASSOCIATION; HUMAN; MEDULLARY CARCINOMA; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; PREDICTIVE VALUE; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; THYROID CANCER; THYROID CARCINOMA; THYROID FOLLICULAR CARCINOMA; CYTODIAGNOSIS; GENETICS; MUTATION; RISK; THYROID TUMOR;

CYTODIAGNOSIS; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; RISK; THYROID NEOPLASMS;

EID: 84859878021     PISSN: None     EISSN: 19346638     Source Type: Journal    
DOI: 10.1002/cncy.20186     Document Type: Review

References (60)

1. National Cancer Institute. A Snapshot of Head and Neck and Thyroid Cancers, http://www.cancer.gov/aboutnci/servingpeople/snapshots/head-neck.pdf. Accessed March 22, 2011.
2. Van Nostrand D. Radionuclide imaging of thyroid nodules. In: Wartofsky L, Van Nostrand D, editors. Thyroid Cancer. Totowa, NJ: Humana Press; 2006:223-228.
3. Miller JM, Hamburger JI, Kini S. Diagnosis of thyroid nodules. Use of fine-needle aspiration and needle biopsy. JAMA. 1979;241:481-484.
4. Prinz RA, O'Morchoe PJ, Barbato AL et al. Fine needle aspiration biopsy of thyroid nodules. Ann Surg. 1983;198: 70-73.
5. Gharib H, Goellner Jr. Fine-needle aspiration biopsy of the thyroid: an appraisal. Ann Intern Med. 1993;118: 282-289.
6. Baloch ZW, Cibas ES, Clark DP, et al. The National Cancer Institute thyroid fine needle aspiration state of the science conference: a summation. Cytojournal. 2008;5:6.
7. Theoharis CG, Schofield KM, Hammers L, Udelsman R, Chhieng DC. The Bethesda thyroid fine-needle aspiration classification system: year 1 at an academic institution. Thyroid. 2009;19:1215-1223.
8. Nayar R, Ivanovic M. The indeterminate thyroid fine-needle aspiration: experience from an academic center using terminology similar to that proposed in the 2007 National Cancer Institute Thyroid Fine Needle Aspiration State of the Science Conference. Cancer Cytopathol. 2009;117:195-202.
9. Nikiforov Y, Ohori P. Papillary carcinoma. In: Nikiforov YE, Biddinger PW, Thompson LDR, editors. Diagnostic Pathology and Molecular Genetics of the Thyroid. Baltimore, MD: Wolters-Kluwer, LWW; 2009:160-162.
10. Plail RO, Bussey HJ, Glazer G, et al. Adenomatous polyposis: an association with carcinoma of the thyroid. Br J Surg. 1987;74:377-380.
11. Tran T, Gianoukakis AG, Familial thyroid neoplasia: impact of technological advances on detection and monitoring. Curr Opin Endocrinol Diabetes Obes. 2010;17: 425-431.
12. 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;23:7436-7440.
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;63:1454-1457.
14. Nikiforova MN, Kumura 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;88:5399-5404.
15. Nikiforov Y, Ohori P. Papillary carcinoma. In: Nikiforov YE, Biddinger PW, Thompson LDR, editors. Diagnostic Pathology and Molecular Genetics of the Thyroid. Baltimore, MD: Wolters-Kluwer, LWW; 2009:164.
16. Nikiforov Y, Rowland JM, Bove KE, et al. Distinct pattern of ret oncogene rearrangements in morphological variants of radiation-induced and sporadic thyroid papillary carcinomas in children. Cancer Res. 1997;57:1690-1694.
17. Zhu Z, Gandhi M, Nikiforovna MN, 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.
18. Rivera M, Ricarte-Filho J, Knauf J, et al. Molecular genotyping of papillary thyroid carcinoma follicular variant according to its histological subtypes (encapsulated vs infiltrative) reveals distinct BRAF and RAS mutation patterns. Modern Pathol. 2010;23:1191-1200.
19. Hara H, Fulton N, Yashiro T, et al. N-ras mutation: an independent prognostic factor for aggressiveness of papillary thyroid carcinoma. Surgery. 1994;116:1010-1016.
20. Pierotti MA, Bongarzone I, Borello MG, et al. Cytogenetics and molecular genetics of carcinomas arising from thyroid epithelial follicular cells. Genes Chromosomes Cancer. 1996;16:1-14.
21. Russell JP, Powell DJ, Cunnane M, et al. The TRK-T1 fusion protein induces neoplastic transformation of thyroid epithelium. Oncogene. 2000;19:5729-5735.
22. Giordano TJ, Kuick R, Thomas DG, et al. Molecular classification of papillary carcinoma: distinct BRAF, RAS and RET/PTC mutation-specific gene expression profiles discovered by DNA microarray analysis. Oncogene. 2005;24:6646-6656.
23. Chevillard S, Ugolin N, Vielh P, et al. Gene expression profiling of differentiated thyroid neoplasms: diagnostic and clinical implications. Clin Cancer Res. 2004;10: 6586-6597.
24. Chen YT, Kitabayashi N, Zhou XT, et al. MicroRNA analysis as a potential diagnostic tool for papillary thyroid carcinoma. Mod Pathol. 2008;21:1139-1146.
25. Nikiforova MN, Tseng GC, Steward D, et al. MicroRNA expression profiling of thyroid tumors: biological significance and diagnostic utility. J Clin Endocrinol Metab. 2008;93:1600-1608.
26. Nikiforov YE, Ohori NP. Follicular carcinoma. In: Nikiforov YE, Biddinger PW, Thompson LDR, editors. Diagnostic Pathology and Molecular Genetics of the Thyroid. Baltimore, MD: Wolters-Kluwer, LWW; 2009:132-133.
27. Harach HR, Soubeyran I, Brown A, et al. Thyroid pathologic findings in patients with Cowden disease. Ann Diagn Pathol. 1999;3:331-340.
28. Ishikawa Y, Sugan H, Matsumoto T, et al. Unusual feature of thyroid carcinomas in Japanese patients with Werner syndrome and possible genotype-phenotype relations to cell type and race. Cancer. 1999;85:1345-1352.
29. Eberhard NL, Grebe SKG, McIver B, et al. The role of the PAX8/PPARc fusion oncogene in the pathogenesis of follicular thyroid cancer. Mol Cell Endocrinol. 2010;32:50-56.
30. French CA, Alexander EK, Cibas ES, et al. Genetic and biological subgroups of low-stage follicular thyroid cancer. Am J Pathol. 2003;162:1053-1060.
31. Nikiforov MN, Lynch RA, Biddinger PW, et al. RAS point mutations and PAX8/PPARR?gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma. J Clin Endocrinol Metab. 2003;88:2318-2326.
32. Shinohara M, Chung YJ, SajiM, et al. AKT in thyroid tumorigenesis and progression. Endocrinology. 2007;148:942-947.
33. Wang Y, Hou P, Yu H, et al. High prevalence and mutual exclusivity of genetic alterations in the phosphatidylinositol-3-kinase/akt pathway in thyroid tumors. J Clin Endocrinol Metab. 2007;92:2387-3290.
34. Wu G, Mambo E, Guo Z, et al. Uncommon mutation, but common amplifications of the PIK3CA gene in thyroid tumors. J Clin Endocrinol Metab. 2005;90:4688-4693.
35. Halachmi N, Halachmi S, Evron E, et al. Somatic mutations of the PTEN tumor suppressor gene in sporadic follicular thyroid tumors. Genes Chromosomes Cancer. 1998; 23:239-243.
36. Maximo V, Botelho T, Capela J, et al. Somatic and germline mutation in GRIM-19, a dual function gene involved in mitrochondrial metabolism and cell death is linked to mitochondrion-rich (Hurthle cell) tumours of the thyroid. Br J Cancer. 2005;92:1892-1898.
37. Rosai J, Carcangiu ML, DeLellis RA. Tumors of the Thyroid Gland. Washington, DC: Armed Forces Institute of Pathology; 1992.
38. Dobashi Y, Sugimura H, Sakamoto A, et al. Stepwise participation of p53 gene mutation during dedifferentiation of human thyroid carcinomas. Diagn Mol Pathol. 1994; 3:9-14.
39. Seethala RR, Nikiforov YE. Anaplastic (undifferentiated) carcinoma. In: Nikiforov YE, Biddinger PW, Thompson LDR, editors. Diagnostic Pathology and Molecular Genetics of the Thyroid. Baltimore, MD: Wolters-Kluwer, LWW; 2009:228.
40. Donghi R, Longoni A, Pilotti S, et al. Gene p52 mutations are restricted to poorly differentiated and undifferentiated carcinomas of the thyroid gland. J Clin Invest. 1993; 91:179-184.
41. Garcia-Rostao G, Tallini G, Herraro A, et al. Frequent mutation and nuclear localization of beta-catenin in anaplastic thyroid carcinoma. Cancer Res. 1999;59: 1811-1815.
42. Mulligan LM, Kwok JB, Healey CS, et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature. 1993;363:458-460.
43. Donis-Keller H, Dou S, Chi D, et al. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet. 1993;2:851-856.
44. Eng C, Smith DP, Mulligan LM, et al. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum Mol Genet. 1994;3:237-241.
45. deGroot JW, Links TP, Plukker JT, et al. RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors. Endocr Rev. 2006;27:535-560.
46. Biddinger PW. Medullary Carcinoma. In: Nikiforov YE, Biddinger PW, Thompson LDR, editors. Diagnostic Pathology and Molecular Genetics of the Thyroid. Baltimore, MD: Wolters-Kluwer, LWW; 2009:251-254.
47. DeLellis RA, Lloyd RV, Heitz PU, et al. Pathology and Genetics of Tumours of Endocrine Organs. Lyons: IARC Press; 2004.
48. Orru G, Coghe F, Gavina F, et al. Rapid multiplex realtime PCR by molecular beacons for different BRAF allele detection in papillary thyroid carcinoma. Diag Mol Pathol, 2010;19:1-8.
49. Feilchenfeldt J, Totsch M, Sheu SY, et al. Expression of galectin-3 in normal and malignant thyroid tissue by quantitative PCR and immunohistochemistry. Mod Pathol. 2003;16:1117-1123.
50. Savagner F, Rodien P, Reynier P, et al. Analysis of Tg transcripts by real-time TR-PCT in the blood of thyroid cancer patients. J Clin Endocrinol Metab. 2002;87: 635-639.
51. 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;89:5175-5180.
52. Cohen Y, Rosenbaum E, Clark DP, et al. Mutational analysis of BRAF in fine needle aspiration biopsies of the thyroid: a potential application for the preoperative assessment of thyroid nodules. Clin Cancer Res. 2004; 10:2761-2765.
53. Riesco-Eizaguirre G, Gutierrez-Martinez P, Garcia-Cabesas MA, et al. The oncogene BRAF V600E is associated with a high risk of recurrence and less differentiated papillary thyroid carcinoma due to the impairment of Na/I-targeting to the membrane. Endocr Relat Cancer. 2006; 13:257-269.
54. Sherman SI. Targeted therapy of thyroid cancer. Biochem Pharmacol. 2010;80:592-601.
55. Nikiforov YE, Steward DL, Robinson-Smith TM, et al. Molecular testing for mutations in improving the fine-needle aspiration diagnosis of thyroid nodules. J Clin Endocrinol Metab. 1009;94:2092-2098.
56. Ohori NP, Nikiforov MN, Schoedel KE, et al. Contribution of molecular testing to thyroid fine-needle aspiration cytology of ''follicular lesion of undetermined significance/atypia of undetermined significance.'' Cancer Cytopathol. 2010;118:17-23.
57. Chudova D, Wilde JI, Wang ET, et al. Molecular classification of thyroid nodules using high-dimensionality genomic data. J Clin Endocrinol Metab. 2010;95:5296-5304.
58. Haugen BR. Development of a novel molecular classifier to accurately identify benign thyroid nodules in patients with indeterminate FNA cytology (abstract). Paris: 14th International Thyroid Congress; September 15, 2010.
59. Grogan RH, Mitmaker EJ, Clark OH. The evolution of biomarkers in thyroid cancer -from mass screening to a personalized biosignature. Cancers. 2010;2:885-912.
60. Nikiforova MN, Nikiforov YE. Molecular diagnostics and predictors in thyroid cancer. Thyroid. 2009;19: 1351-1361.