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How limited molecular testing can also offer diagnostic and prognostic evaluation of thyroid nodules processed with liquid- based cytology: Role of TERT promoter and BRAF V600E mutation analysis
dc.contributor.authorDell’aquila, Marco
dc.contributor.authorFiorentino, Vincenzo
dc.contributor.authorMartini, Maurizio
dc.contributor.authorCapodimonti, Sara
dc.contributor.authorCenci, Tonia
dc.contributor.authorLombardi, Celestino Pio
dc.contributor.authorRaffaelli, Marco
dc.contributor.authorPontecorvi, Alfredo
dc.contributor.authorFadda, Guido
dc.contributor.authorPantanowitz, Liron
dc.contributor.authorLarocca, Luigi Maria
dc.contributor.authorRossi, Esther Diana
dc.date.accessioned2021-11-02T00:48:05Z
dc.date.available2022-11-01 20:48:04en
dc.date.available2021-11-02T00:48:05Z
dc.date.issued2021-10
dc.identifier.citationDell’aquila, Marco ; Fiorentino, Vincenzo; Martini, Maurizio; Capodimonti, Sara; Cenci, Tonia; Lombardi, Celestino Pio; Raffaelli, Marco; Pontecorvi, Alfredo; Fadda, Guido; Pantanowitz, Liron; Larocca, Luigi Maria; Rossi, Esther Diana (2021). "How limited molecular testing can also offer diagnostic and prognostic evaluation of thyroid nodules processed with liquid- based cytology: Role of TERT promoter and BRAF V600E mutation analysis." Cancer Cytopathology (10): 819-829.
dc.identifier.issn1934-662X
dc.identifier.issn1934-6638
dc.identifier.urihttps://hdl.handle.net/2027.42/170892
dc.publisherBritish Thyroid Association, Royal College of Physicians
dc.publisherWiley Periodicals, Inc.
dc.subject.otherliquid- based cytology
dc.subject.otherBRAF mutations
dc.subject.otherfollicular neoplasms
dc.subject.otherfollicular variant of papillary thyroid carcinoma
dc.subject.otherpapillary thyroid carcinoma
dc.subject.otherTERT promoter
dc.titleHow limited molecular testing can also offer diagnostic and prognostic evaluation of thyroid nodules processed with liquid- based cytology: Role of TERT promoter and BRAF V600E mutation analysis
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelOncology and Hematology
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/170892/1/cncy22454_am.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/170892/2/cncy22454.pdf
dc.identifier.doi10.1002/cncy.22454
dc.identifier.sourceCancer Cytopathology
dc.identifier.citedreferenceWick MR, Eusebi V, Lamovec J, et al. Tumors of the thyroid gland. In: Lloyd RV, Osamura RY, Kloppel G, Rosai J, eds. World Health Organization (WHO) Classification of Tumors of Endocrine Organs. WHO Classification of Tumors. 4 th ed. Volume 10. IARC Press; 2017: 65 - 144.
dc.identifier.citedreferenceLiu R, Zhang T, Zhu G, Xing M. Regulation of mutant TERT by BRAFV600E/MAP kinase pathway through FOS/GABP in human cancer. Nat Commun. 2018; 9: 579.
dc.identifier.citedreferenceSong YS, Park YJ. Mechanisms of TERT reactivation and its interaction with BRAFV600E. Endocrinol Metab (Seoul). 2020; 35: 515 - 525.
dc.identifier.citedreferenceAhmad F, Nathani R, Venkat J, et al. Molecular evaluation of BRAF gene mutation in thyroid tumors: significant association with papillary tumors and extra thyroidal extension indicating its role as a biomarker of aggressive disease. Exp Mol Pathol. 2018; 105: 380 - 386.
dc.identifier.citedreferenceCrescenzi A, Trimboli P, Modica DC, et al. Preoperative assessment of TERT promoter mutation on thyroid core needle biopsies supports diagnosis of malignancy and addresses surgical strategy. Horm Metab Res. 2016; 48: 157 - 162.
dc.identifier.citedreferenceGharib H, Goellner RJ, Johnson DA. Fine- needle aspiration of the thyroid: a 12- year experience with 11,000 biopsies. Clin Lab Med. 1993; 13: 699 - 709.
dc.identifier.citedreferencePerros P, Colley S, Boelaert K, et al. Guidelines for the Management of Thyroid Cancer. 3 rd ed. Report of the Thyroid Cancer Guidelines Update Group. British Thyroid Association, Royal College of Physicians; 2014.
dc.identifier.citedreferenceAli S, Cibas ES. The Bethesda System for Reporting Thyroid Cytopathology. 2 nd ed. Springer; 2018.
dc.identifier.citedreferenceFadda G, Basolo F, Bondi A, et al. Cytological classification of thyroid nodules. Proposal of the SIAPEC- IAP Italian Consensus Working Group. Pathologica. 2010; 102: 405 - 408.
dc.identifier.citedreferenceNardi F, Basolo F, Crescenzi A, et al. Italian consensus for the classification and reporting of thyroid cytology. J Endocrinol Invest. 2014; 37: 593 - 599.
dc.identifier.citedreferenceFadda G, Rossi ED. Liquid- based cytology in fine- needle aspiration biopsies of the thyroid gland. Acta Cytol. 2011; 55: 389 - 400.
dc.identifier.citedreferenceFadda G, Rossi ED, Raffaelli M, et al. Follicular thyroid neoplasms can be classified as low- and high- risk according to HBME- 1 and Galectin- 3 expression on liquid- based fine- needle cytology. Eur J Endocrinol. 2011; 165: 447 - 453.
dc.identifier.citedreferenceRossi ED, Martini M, Capodimonti S, et al. Morphology combined with ancillary techniques: an algorithm approach for thyroid nodules. Cytopathology. 2018; 29: 418 - 427.
dc.identifier.citedreferenceRossi ED, Martini M, Capodimonti S, et al. Analysis of immunocytochemical and molecular BRAF expression in thyroid carcinomas: a cytohistological institutional experience. Cancer Cytopathol. 2014; 122: 527 - 535.
dc.identifier.citedreferenceRossi ED, Martini M, Capodimonti S, et al. BRAF (V600E) mutation analysis on liquid- based cytology- processed aspiration biopsies predicts bilaterality and lymph node involvement in papillary thyroid microcarcinoma. Cancer Cytopathol. 2013; 121: 291 - 297.
dc.identifier.citedreferenceLiu R, Xing M. TERT promoter mutations in thyroid cancer. Endocr Relat Cancer. 2016; 23: R143 - R155.
dc.identifier.citedreferenceNikiforov YE, Seethala RR, Tallini G, et al. Nomenclature revision for encapsulated follicular variant of papillary thyroid carcinoma: a paradigm shift to reduce overtreatment of indolent tumors. JAMA Oncol. 2016; 2: 1023 - 1029.
dc.identifier.citedreferenceAmin MB, Edge S, Greene F, et al, eds. American Joint Committee on Cancer (AJCC) Cancer Staging Manual. 8 th ed. Springer; 2017.
dc.identifier.citedreferenceFugazzola L, Puxeddu E, Avenia N, et al. Correlation between B- RAFV600E mutation and clinico- pathologic parameters in papillary thyroid carcinoma: data from a multicentric Italian study and review of the literature. Endocr Relat Cancer. 2006; 13: 455 - 464.
dc.identifier.citedreferencePuxeddu 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 - 2420.
dc.identifier.citedreferenceXu R, Tuttle RM, Sabra MM, Ganly I, Ghossein R. Primary thyroid carcinoma with low- risk histology and distant metastases: clinicopathologic and molecular characteristics. Thyroid. 2017; 27: 632 - 640.
dc.identifier.citedreferenceRossi ED, Martini M, Capodimonti S, et al. Diagnostic and prognostic value of immunocytochemistry and BRAF mutation analysis on liquid- based biopsies of thyroid neoplasms suspicious for carcinoma. Eur J Endocrinol. 2013; 168: 853 - 859.
dc.identifier.citedreferenceRossi ED, Martini M, Bizzarro T, et al. Uncommon BRAF mutations in the follicular variant of thyroid papillary carcinoma: new insights. Cancer Cytopathol. 2015; 123: 593 - 602.
dc.identifier.citedreferenceChakraborty A, Narkar A, Mukhopadhyaya R, Kane S, D’Cruz A, Rajan MG. BRAF V600E mutation in papillary thyroid carcinoma: significant association with node metastases and extra thyroidal invasion. Endocr Pathol. 2012; 23: 83 - 93.
dc.identifier.citedreferenceMoon S, Song YS, Kim YA, et al. Effects of coexistent BRAF V600E and TERT promoter mutations on poor clinical outcomes in papillary thyroid cancer: a meta- analysis. Thyroid. 2017; 27: 651 - 660.
dc.identifier.citedreferenceWang H, Liu T, Sofiadis A, et al. TERT promoter mutation as an early genetic event activating telomerase in follicular thyroid adenoma (FTA) and atypical FTA. Cancer. 2014; 120: 2965 - 2979.
dc.identifier.citedreferenceTrybek T, Walczyk A, GÄ sior- Perczak D, et al. Impact of BRAF V600E and TERT promoter mutations on response to therapy in papillary thyroid cancer. Endocrinology. 2019; 160: 2328 - 2338.
dc.identifier.citedreferenceVuong HG, Altibi AM, Duong UN, et al. Role of molecular markers to predict distant metastasis in papillary thyroid carcinoma: promising role of TERT promoter mutations and insignificant role of BRAF mutations- a meta- analysis. Tumor Biol. 2017; 39: 1010428317713913.
dc.identifier.citedreferenceLee SE, Hwang TS, Choi YL, et al. Prognostic significance of TERT promoter mutations in papillary thyroid carcinomas in a BRAFV600E mutation- prevalent population. Thyroid. 2016; 26: 901 - 910.
dc.identifier.citedreferenceBellevicine C, Migliatico I, Spariglia R, et al. Evaluation of BRAF, RAS, RET/PTC, and PAX8/PPARg alterations in different Bethesda diagnostic categories: a multicentric prospective study on the validity of the 7- gene panel test in 1172 thyroid FNAs deriving from different hospitals in South Italy. Cancer Cytopathol. 2020; 128: 107 - 118.
dc.identifier.citedreferenceRossi ED, Bizzarro T, Martini M, et al. Morphological parameters able to predict BRAF(V600E)- mutated malignancies on thyroid fine- needle aspiration cytology: our institutional experience. Cancer Cytopathol. 2014; 122: 883 - 891.
dc.identifier.citedreferenceYamaguchi T, Akahane T, Harada O, et al. Next- generation sequencing in residual liquid- based cytology specimens for cancer genome analysis. Diagn Cytopathol. 2020; 48: 965 - 971. doi: 10.1002/dc.24511
dc.identifier.citedreferenceSuzuki A, Hirokawa M, Ito A, et al. Identification of cytological features distinguishing mucosa- associated lymphoid tissue lymphoma from reactive lymphoid proliferation using thyroid liquid- based cytology. Acta Cytol. 2018; 62: 93 - 98.
dc.identifier.citedreferenceLiu CY, Bychkov A, Agarwal S, et al. Cytologic diagnosis of medullary thyroid carcinoma in the Asia- Pacific region. Diagn Cytopathol. 2021; 49: 60 - 69.
dc.identifier.citedreferenceDecaussin- Petrucci M, Descotes F, Depaepe L, et al. Molecular testing of BRAF, RAS and TERT on thyroid FNAs with indeterminate cytology improves diagnostic accuracy. Cytopathology. 2017; 28: 482 - 487.
dc.identifier.citedreferenceLiu R, Bishop J, Zhu G, Zhang T, Ladenson PW, Xing M. Mortality risk stratification by combining BRAFV600E and TERT promoter mutations in papillary thyroid cancer: genetic duet of BRAF and TERT promoter mutations in thyroid cancer mortality. JAMA Oncol. 2017; 3: 202 - 208.
dc.identifier.citedreferencePellegriti G, Frasca F, Regalbuto C, Squatrito S, Vigneri R. Worldwide increasing incidence of thyroid cancer: update on epidemiology and risk factor. J Cancer Epidemiol. 2013; 2013: 965212.
dc.identifier.citedreferenceHaugen BR, Alexander E, Bible KC, et al. 2015 American Thyroid Association management guidelines for adult patients with thyroid nodules and differentiated thyroid cancer. The American Thyroid Association Guidelines Taskforce on Thyroid Nodules and Differentiated Thyroid Cancer. Thyroid. 2016; 26: 1 - 133.
dc.identifier.citedreferenceXing M, Haugen BR, Schlumberger M. Progress in molecular based management of differentiated thyroid cancer. Lancet. 2013; 381: 1058 - 1069.
dc.identifier.citedreferenceXing M. BRAF mutation in thyroid cancer. Endocr Relat Cancer. 2005; 12: 245 - 262.
dc.identifier.citedreferenceTufano RP, Teixera GV, Bishop J, Carson KA, Xing M. BRAF mutation in papillary thyroid cancer and its value in tailoring initial treatment: a systematic review and meta- analysis. Medicine (Baltimore). 2012; 91: 274 - 286.
dc.identifier.citedreferenceXing M. BRAF mutation in papillary thyroid cancer: pathogenic role, molecular bases and clinical implications. Endocr Rev. 2007; 28: 742 - 762.
dc.identifier.citedreferenceXing M. Prognostic utility of BRAF mutation in papillary thyroid cancer. Mol Cell Endocrinol. 2010; 32: 86 - 93.
dc.identifier.citedreferenceXing M, Alzahrani AS, Carson KA, et al. Association between BRAFV600E and recurrence of papillary thyroid cancer. J Clin Oncol. 2015; 33: 42 - 50.
dc.identifier.citedreferenceXing M, Westra WH, Tufano RP, et al. BRAF mutation predicts a poorer clinical prognosis for papillary thyroid cancer. J Clin Endocrinol Metab. 2005; 90: 6373 - 6379.
dc.identifier.citedreferenceXing M, Alzahrani AS, Carson KA, et al. Association between BRAFV600E and mortality in patients with papillary thyroid cancer. JAMA. 2013; 309: 1493 - 1501.
dc.identifier.citedreferenceSong YS, Yoo SK, Kim HH, et al. Interaction of BRAF- induced ETS factors with mutant TERT promoter in papillary thyroid cancer. Endocr Relat Cancer. 2019; 26: 629 - 641.
dc.identifier.citedreferenceRusinek D, Pfeifer A, Cieslicka M, et al. TERT promoter mutations and their impact on gene expression profile in papillary thyroid carcinoma. Cancers (Basel). 2020; 12: 1597.
dc.identifier.citedreferenceLiu X, Bishop J, Shan Y, et al. Highly prevalent TERT promoter mutations in aggressive thyroid cancers. Endocr Relat Cancer. 2013; 20: 603 - 610.
dc.identifier.citedreferenceXing M, Liu R, Liu X, et al. BRAF V600E and TERT promoter mutations cooperatively identify the most aggressive papillary thyroid cancer with highest recurrence. J Clin Oncol. 2014; 32: 2718 - 2726.
dc.identifier.citedreferenceJin L, Chen E, Dong S, et al. BRAF and TERT promoter mutations in the aggressiveness of papillary thyroid carcinoma: a study of 653 patients. Oncotarget. 2016; 7: 18346 - 18355.
dc.identifier.citedreferenceSong YS, Lim JA, Choi H, et al. Prognostic effects of TERT promoter mutations are enhanced by coexistence with BRAF or RAS mutations and strengthen the risk prediction by the ATA or TNM staging system in differentiated thyroid cancer patients. Cancer. 2016; 122: 1370 - 1379.
dc.identifier.citedreferenceXing M, Liu R, Bishop J. TERT promoter and BRAF mutations cooperatively promote papillary thyroid cancer- related mortality [abstract]. Thyroid. 2014; 24 ( suppl 1 ): A- 131.
dc.identifier.citedreferenceNikiforov YE, Nikiforova MN. Molecular genetics and diagnosis of thyroid cancer. Nat Rev Endocrinol. 2011; 7: 569 - 580.
dc.identifier.citedreferenceGandolfi G, Ragazzi M, Frasoldati A, et al. TERT promoter mutations are associated with distant metastases in papillary thyroid carcinoma. Eur J Endocrinol. 2015; 172: 403 - 413.
dc.identifier.citedreferencePanebianco F, Nikitski AV, Nikiforova MN, Nikiforov YE. Spectrum of TERT promoter mutations and mechanisms of activation in thyroid cancer. Cancer Med. 2019; 8: 5831 - 5839.
dc.identifier.citedreferenceLiu X, Shen Q, Liu R, et al. TERT promoter mutations and their association with BRAFV600E mutation and aggressive clinicopathological characteristics of thyroid cancer. J Clin Endocrinol Metab. 2014; 99: E1130 - E1136.
dc.identifier.citedreferenceTrimboli P, Scappaticcio L, Treglia G, et al. Testing for BRAFV600E mutation in thyroid nodules with fine- needle aspiration read as suspicious for malignancy (Bethesda V, Thy4, TIR4): a systematic review and meta- analysis. Endocr Pathol. 2020; 31: 57 - 66.
dc.identifier.citedreferenceVuong HG, Altibi AMA, Duong UNP, Hassell L. Prognostic implication of BRAF and TERT promoter mutation combination in papillary thyroid carcinoma- a meta- analysis. Clin Endocrinol. 2017; 87: 411 - 417.
dc.identifier.citedreferenceYin DT, Yu K, Lu RQ, et al. Clinicopathological significance of TERT promoter mutation in papillary thyroid carcinomas: a systematic review and meta- analysis. Clin Endocrinol. 2016; 85: 299 - 305.
dc.identifier.citedreferenceMelo M, Gaspar da Rocha A, Batista R, et al. TERT, BRAF, and NRAS in primary thyroid cancer and metastatic disease. J Clin Endocrinol Metab. 2017; 102: 1898 - 1907.
dc.identifier.citedreferenceYan S, Huang M, Li X, Wang T, Ling R. Relationship between BRAFV600E and clinical features in papillary thyroid carcinoma. Endocr Connect. 2019; 8: 988 - 996.
dc.working.doiNOen
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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