Preoperative Assessment of TERT Promoter Mutation on Thyroid Core Needle Biopsies Supports Diagnosis of Malignancy and Addresses Surgical Strategy

Hormone and Metabolic Research

Volumn 48, Issue 3, 2016, Pages 157-162

  Crescenzi, A ^a   Trimboli, P ^b   Modica, D C ^b   Taffon, C ^a   Guidobaldi, L ^b   Taccogna, S ^c   Rainer, A ^a   Trombetta, M ^a   Papini, E ^c   Zelano, G ^d  

^a UNIVERSITY CAMPUS BIO MEDICO   (Italy)

^b Piazza San Bartolomeo All'Isola 21   (Italy)

^c REGINA APOSTOLORUM HOSPITAL   (Italy)

^d FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

Author keywords

cancer; core needle biopsy (CNB); TERT; thyroid

Indexed keywords

B RAF KINASE; DNA; PARAFFIN; TELOMERASE REVERSE TRANSCRIPTASE; TELOMERASE; TERT PROTEIN, HUMAN;

ADVANCED CANCER; ARTICLE; CANCER PATIENT; CANCER STAGING; CANCER SURGERY; CLINICAL ARTICLE; CONTROLLED STUDY; CORE NEEDLE BIOPSY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DNA ISOLATION; FALSE NEGATIVE RESULT; FINE NEEDLE ASPIRATION BIOPSY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MUTATIONAL ANALYSIS; NEEDLE BIOPSY; NODULAR HYPERPLASIA; PREOPERATIVE EVALUATION; PRIORITY JOURNAL; PROMOTER REGION; RETROSPECTIVE STUDY; RISK REDUCTION; SENSITIVITY AND SPECIFICITY; STRATEGIC PLANNING; THYROID ADENOMA; THYROID CANCER; THYROID FOLLICULAR CARCINOMA; THYROID NODULE; THYROID PAPILLARY CARCINOMA; TREATMENT PLANNING; TUMOR BIOPSY; TUMOR DIFFERENTIATION; GENETICS; LARGE CORE NEEDLE BIOPSY; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PREOPERATIVE CARE; THYROID GLAND; THYROID NEOPLASMS;

BASE SEQUENCE; BIOPSY, LARGE-CORE NEEDLE; HUMANS; MUTATION; NEOPLASM STAGING; PREOPERATIVE CARE; PROMOTER REGIONS, GENETIC; PROTO-ONCOGENE PROTEINS B-RAF; TELOMERASE; THYROID GLAND; THYROID NEOPLASMS;

EID: 84961062566     PISSN: 00185043     EISSN: 14394286     Source Type: Journal    
DOI: 10.1055/s-0035-1548873     Document Type: Article

References (41)

1. Vinagre J., Almeida A., Pópulo H., Batista R., Lyra J., Pinto V., Coelho R., Celestino R., Prazeres H., Lima L., Melo M., da Rocha A. G., Preto A., Castro P., Castro L., Pardal F., Lopes J. M., Santos L. L., Reis R. M., Cameselle-Teijeiro J., Sobrinho-Simóes M., Lima J., Máximo V., Soares P. Frequency of TERT promoter mutations in human cancers. Nat Commun: 2013; 4 2185
2. Horn S., Figl A., Rachakonda P. S., Fischer C., Sucker A., Gast A., Kadel S., Moll I., Nagore E., Hemminki K., Schadendorf D., Kumar R. TERT promoter mutations in familial and sporadic melanoma. Science: 2013; 339 959 961
3. Huang F. W., Hodis E., Xu M. J., Kryukov G. V., Chin L., Garraway L. A. Highly recurrent TERT promoter mutations in human melanoma. Science: 2013; 339 957 959
4. Killela P. J., Reitman Z. J., Jiao Y., Bettegowda C., Agrawal N., Diaz L. A., Friedman A. H., Friedman H., Gallia G. L., Giovanella B. C., Grollman A. P., He T. C., He Y., Hruban R. H., Jallo G. I., Mandahl N., Meeker A. K., Mertens F., Netto G. J., Rasheed B. A., Riggins G. J., Rosenquist T. A., Schiffman M., Shih I. M., Theodorescu D., Torbenson M. S., Velculescu V. E., Wang T. L., Wentzensen N., Wood L. D., Zhang M., McLendon R. E., Bigner D. D., Kinzler K. W., Vogelstein B., Papadopoulos N., Yan H. TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal. Proc Natl Acad Sci U S A: 2013; 110 6021 6026
5. Xing M., Liu R., Liu X., Murugan A. K., Zhu G., Zeiger M. A., Pai S., Bishop J. BRAF V600E and TERT Promoter Mutations Cooperatively Identify the Most Aggressive Papillary Thyroid Cancer With Highest Recurrence. J Clin Oncol: 2014; 32 2718 2726
6. Liu X., Qu S., Liu R., Sheng C., Shi X., Zhu G., Murugan A. K., Guan H., Yu H., Wang Y., Sun H., Shan Z., Teng W., Xing M. TERT promoter mutations and their association with BRAF V600E mutation and aggressive clinicopathological characteristics of thyroid cancer. J Clin Endocrinol Metab: 2014; 99 E1130 E1136
7. Liu X., Bishop J., Shan Y., Pai S., Liu D., Murugan A. K., Sun H., El-Naggar A. K., Xing M. Highly prevalent TERT promoter mutations in aggressive thyroid cancers. Endocr Relat Cancer: 2013; 20 603 610
8. Melo M., da Rocha A. G., Vinagre J., Batista R., Peixoto J., Tavares C., Celestino R., Almeida A., Salgado C., Eloy C., Castro P., Prazeres H., Lima J., Amaro T., Lobo C., Martins M. J., Moura M., Cavaco B., Leite V., Cameselle-Teijeiro J. M., Carrilho F., Carvalheiro M., Máximo V., Sobrinho-Simóes M., Soares P. TERT promoter mutations are a major indicator of poor outcome in differentiated thyroid carcinomas. J Clin Endocrinol Metab: 2014; 99 E754 E765
9. Wang N., Liu T., Sofiadis A., Juhlin C. C., Zedenius J., Höög A., Larsson C., Xu D. TERT promoter mutation as an early genetic event activating telomerase in follicular thyroid adenoma (FTA) and atypical FTA. Cancer: 2014; 120 2965 2979
10. Park K. T., Ahn S. H., Mo J. H., Park Y. J., Park dJ, Choi S. I., Park S. Y. Role of core needle biopsy and ultrasonographic finding in management of indeterminate thyroid nodules. Head Neck: 2011; 33 160 165
11. Sung J. Y., Na D. G., Kim K. S., Yoo H., Lee H., Kim J. H., Baek J. H. Diagnostic accuracy of fine-needle aspiration versus core-needle biopsy for the diagnosis of thyroid malignancy in a clinical cohort. Eur Radiol: 2012; 22 1564 1572
12. Na D. G., Kim J. H., Sung J. Y., Baek J. H., Jung K. C., Lee H., Yoo H. Core-needle biopsy is more useful than repeat fine-needle aspiration in thyroid nodules read as nondiagnostic or atypia of undetermined significance by the Bethesda system for reporting thyroid cytopathology. Thyroid: 2012; 22 468 475
13. Renshaw A. A., Pinnar N. Comparison of thyroid fine-needle aspiration and core needle biopsy. Am J Clin Pathol: 2007; 128 370 374
14. Samir A. E., Vij A., Seale M. K., Desai G., Halpern E., Faquin W. C., Parangi S., Hahn P. F., Daniels G. H. Ultrasound-guided percutaneous thyroid nodule core biopsy: clinical utility in patients with prior nondiagnostic fine-needle aspirate. Thyroid: 2012; 22 461 467
15. Nasrollah N., Trimboli P., Guidobaldi L., Cicciarella Modica D. D., Ventura C., Ramacciato G., Taccogna S., Romanelli F., Valabrega S., Crescenzi A. Thin core biopsy should help to discriminate thyroid nodules cytologically classified as indeterminate. A new sampling technique. Endocrine: 2013; 43 659 665
16. Nasrollah N., Trimboli P., Rossi F., Amendola S., Guidobaldi L., Ventura C., Maglio R., Nigri G., Romanelli F., Valabrega S., Crescenzi A. Patient's comfort with and tolerability of thyroid core needle biopsy. Endocrine: 2014; 45 79 83
17. Crescenzi A., Guidobaldi L., Nasrollah N., Taccogna S., Cicciarella Modica D. D., Turrini L., Nigri G., Romanelli F., Valabrega S., Giovanella L., Onetti Muda A., Trimboli P. Immunohistochemistry for BRAF(V600E) antibody VE1 performed in core needle biopsy samples identifies mutated papillary thyroid cancers. Horm Metab Res: 2014; 46 370 374
18. The Bethesda System for Reporting Thyroid Cytopathology: Definitions, Criteria and Explanatory Notes. New York Springer Science+Business Media: 2010
19. Kocjan G., Cochand-Priollet B., de Agustin P. P., Bourgain C., Chandra A., Daneshbod Y., Deery A., Duskova J., Ersoz C., Fadda G., Fassina A., Firat P., Jimenez-Ayala B., Karakitsos P., Koperek O., Matesa N., Poller D., Thienpont L., Ryska A., Schenck U., Sauer T., Schmitt F., Tani E., Toivonen T., Tötsch M., Troncone G., Vass L., Vielh P. Diagnostic terminology for reporting thyroid fine needle aspiration cytology: European Federation of Cytology Societies thyroid working party symposium, Lisbon 2009. Cytopathology: 2010; 21 86 92
20. Nardi F., Basolo F., Crescenzi A., Fadda G., Frasoldati A., Orlandi F., Palombini L., Papini E., Zini M., Pontecorvi A., Vitti P. Italian consensus for the classification and reporting of thyroid cytology. J Endocrinol Invest: 2014; 37 593 599
21. Trimboli P., Nasrollah N., Guidobaldi L., Taccogna S., Cicciarella Modica D. D., Amendola S., Romanelli F., Lenzi A., Nigri G., Centanni M., Giovanella L., Valabrega S., Crescenzi A. The use of core needle biopsy as first-line in diagnosis of thyroid nodules reduces false negative and inconclusive data reported by fine-needle aspiration. World J Surg Oncol: 2014; 12 61
22. Hedinger C., Williams E. D., Sobin L. H. Histological typing of thyroid tumoursWorld Health Organization International histological classification of tumours. Berlin Springer-Verlag: 2014
23. th Edition Berlin Springer: 2010
24. Elisei R., Viola D., Torregrossa L., Giannini R., Romei C., Ugolini C., Molinaro E., Agate L., Biagini A., Lupi C., Valerio L., Materazzi G., Miccoli P., Piaggi P., Pinchera A., Vitti P., Basolo F. The BRAF(V600E) mutation is an independent, poor prognostic factor for the outcome of patients with low-risk intrathyroid papillary thyroid carcinoma: single-institution results from a large cohort study. J Clin Endocrinol Metab: 2012; 97 4390 4398
25. Cibas E. S., Ali S. Z. Conference NTFSotS The Bethesda System For Reporting Thyroid Cytopathology. Am J Clin Pathol: 2009; 132 658 665
26. Wu H. H., Jones J. N., Osman J. Fine-needle aspiration cytology of the thyroid: ten years experience in a community teaching hospital. Diagn Cytopathol: 2006; 34 93 96
27. Gharib H., Goellner J. R. Fine-needle aspiration biopsy of thyroid nodules. Endocr Pract: 1995; 1 410 417
28. Rago T., Fiore E., Scutari M., Santini F., Di Coscio G., Romani R., Piaggi P., Ugolini C., Basolo F., Miccoli P., Pinchera A., Vitti P. Male sex, single nodularity, and young age are associated with the risk of finding a papillary thyroid cancer on fine-needle aspiration cytology in a large series of patients with nodular thyroid disease. Eur J Endocrinol: 2010; 162 763 770
29. Gul K., Ersoy R., Dirikoc A., Korukluoglu B., Ersoy P. E., Aydin R., Ugras S. N., Belenli O. K., Cakir B. Ultrasonographic evaluation of thyroid nodules: comparison of ultrasonographic, cytological, and histopathological findings. Endocrine: 2009; 36 464 472
30. Eszlinger M., Paschke R. Molecular fine-needle aspiration biopsy diagnosis of thyroid nodules by tumor specific mutations and gene expression patterns. Mol Cell Endocrinol: 2010; 322 29 37
31. Nikiforova M. N., Nikiforov Y. E. Molecular diagnostics and predictors in thyroid cancer. Thyroid: 2009; 19 1351 1361
32. Couto J. P., Prazeres H., Castro P., Lima J., Máximo V., Soares P., Sobrinho-Simóes M. How molecular pathology is changing and will change the therapeutics of patients with follicular cell-derived thyroid cancer. J Clin Pathol: 2009; 62 414 421
33. Landa I., Ganly I., Chan T. A., Mitsutake N., Matsuse M., Ibrahimpasic T., Ghossein R. A., Fagin J. A. Frequent somatic TERT promoter mutations in thyroid cancer: higher prevalence in advanced forms of the disease. J Clin Endocrinol Metab: 2013; 98 E1562 E1566
34. Liu T., Wang N., Cao J., Sofiadis A., Dinets A., Zedenius J., Larsson C., Xu D. The age- and shorter telomere-dependent TERT promoter mutation in follicular thyroid cell-derived carcinomas. Oncogene: 2014; 33 4978 4984
35. Cooper D. S., Doherty G. M., Haugen B. R., Kloos R. T., Lee S. L., Mandel S. J., Mazzaferri E. L., McIver B., Pacini F., Schlumberger M., Sherman S. I., Steward D. L., Tuttle R. M. Thyroid: 2009; 19 1167 1214
36. Liu R., Xing M. Diagnostic and prognostic TERT promoter mutations in thyroid fine needle biopsy. Endocr Relat Cancer: 2014; 21 825 830
37. Harvey J. N., Parker D., De P., Shrimali R. K., Otter M. Sonographically guided core biopsy in the assessment of thyroid nodules. J Clin Ultrasound: 2005; 33 57 62
38. Nikiforov Y. E., Ohori N. P., Hodak S. P., Carty S. E., LeBeau S. O., Ferris R. L., Yip L., Seethala R. R., Tublin M. E., Stang M. T., Coyne C., Johnson J. T., Stewart A. F., Nikiforova M. N. Impact of mutational testing on the diagnosis and management of patients with cytologically indeterminate thyroid nodules: a prospective analysis of 1056 FNA samples. J Clin Endocrinol Metab: 2011; 96 3390 3397
39. Stokowy T., Wojtas̈ B., Fujarewicz K., Jarzab B., Eszlinger M., Paschke R. miRNAs with the potential to distinguish follicular thyroid carcinomas from benign follicular thyroid tumors: results of a meta-analysis. Horm Metab Res: 2014; 46 171 180
40. Trimboli P., Treglia G., Giovanella L. Preoperative Measurement of Serum Thyroglobulin to Predict Malignancy in Thyroid Nodules: A Systematic Review. Horm Metab Res: 2015; 47 247 252
41. Rosario P. W., Penna G. C., Calsolari M. R. Predictive factors of malignancy in thyroid nodules with repeatedly nondiagnostic cytology (Bethesda category I): value of ultrasonography. Horm Metab Res: 2014; 46 294 298