<i>TERT</i> Promoter Mutations in Papillary Thyroid Microcarcinomas

Biase, Dario de; Gandolfi, Greta; Ragazzi, Moira; Eszlinger, Markus; Sancisi, Valentina; Gugnoni, Mila; Visani, Michela; Pession, Annalisa; Casadei, Gianpaolo; Durante, Cosimo; Costante, Giuseppe; Bruno, Rocco; Torlontano, Massimo; Paschke, Ralf; Filetti, Sébastiano; Piana, Simonetta; Frasoldati, Andrea; Tallini, Giovanni; Ciarrocchi, Alessia

doi:10.1089/thy.2015.0101

Cited by 85 publications

(107 citation statements)

References 25 publications

(3 reference statements)

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“…TERT promoter mutation is a rare genetic event in papillary thyroid microcarcinomas (PTMC) as demonstrated in the study of de Biase et al, which examined the TERT promoter mutation status in 431 PTMC and found a prevalence of 4.7% (de Biase et al 2015); this prevalence is much lower than that seen on the analyses of thyroid cancers of all tumor sizes (Table 1). TERT promoter mutation appears to also be uncommon in pediatric thyroid cancers as suggested by the study of Ballester et al, which found no TERT promoter mutation in 27 pediatric thyroid cancers, including 25 PTC, 1 FTC and 1 MTC (Ballester et al 2015).…”

Section: Common Occurrence Of Tert Promoter Mutations In Thyroid Cancermentioning

confidence: 98%

“…There is also thyroid Hürthle cell cancer (HCC), which is uncommon and conventionally treated as a type of FTC. Since our first report of TERT promoter mutations in various types of thyroid cancer in 2013 (Liu et al 2013b), there have been a large number of more studies on this topic published, reporting and characterizing TERT promoter mutations in thyroid cancer (Cancer Genome Atlas Research Network 2014; Chindris et al 2015; Crescenzi et al 2015; de Biase et al 2015; Dettmer et al 2015; Gandolfi et al 2015; Landa et al 2013; Lee et al 2015; Liu and Xing 2014; Liu et al 2014a; Liu et al 2014b; Melo et al 2014; Muzza et al 2015; Qasem et al 2015; Shi et al 2015a; Vinagre et al 2013; Wang et al 2014a; Wang et al 2014b; Xing et al 2014a). This is an exciting new thyroid cancer research field, which has progressed rapidly just in this past two years; much has now already been known about the biological role and clinical significance of TERT promoter mutations in thyroid cancer.…”

Section: Introductionmentioning

confidence: 99%

“…We included all the studies on TERT promoter mutations in thyroid cancer published in English in Pubmed as of November 2015 with identifiable information on thyroid tumor types. The pooled analyses included nonselective cases from different studies available for the analyzed parameters as presented in the corresponding tables and figures and did not include four studies which were each focused on highly selective special cases, including pediatric thyroid cancer (Ballester et al 2015), papillary thyroid microcarcinomas (de Biase et al 2015), advanced tall-cell PTC only (Dettmer et al 2015), and distant-metastasis PTC only (Gandolfi et al 2015). …”

Section: Introductionmentioning

confidence: 99%

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TERT promoter mutations in thyroid cancer

Liu¹,

Xing²

2016

Endocrine-Related Cancer

322

301

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The 2013 discovery of TERT promoter mutations chr5, 1,295,228 C>T (C228T) and 1,295,250 C>T (C250T) in thyroid cancer represents an important event in the thyroid cancer field and much progress has occurred since then. This article provides a comprehensive review of this exciting new thyroid cancer field. The oncogenic role of TERT promoter mutations involves their creation of consensus binding sites for ETS transcriptional factors. TERT C228T is far more common than TERT C250T and their collective prevalence is, on average, 0%, 11.3%, 17.1%, 43.2%, and 40.1% in benign thyroid tumors, papillary thyroid cancer (PTC), follicular thyroid cancer, poorly differentiated thyroid cancer, and anaplastic thyroid cancer, respectively, displaying an association with aggressive types of thyroid cancer. TERT promoter mutations are associated with aggressive thyroid tumor characteristics, tumor recurrence, and patient mortality as well as BRAF V600E mutation. Coexisting BRAF V600E and TERT promoter mutations have a robust synergistic impact on the aggressiveness of PTC, including a sharply increased tumor recurrence and patient mortality, while either mutation alone has a modest impact. Thus, TERT with promoter mutations represents a prominent new oncogene in thyroid cancer and the mutations are promising new diagnostic and prognostic genetic markers for thyroid cancer, which, in combination with BRAF V600E mutation or other genetic markers (e.g., RAS mutations), are proving to be clinically useful for the management of thyroid cancer. Future studies will specifically define such clinical utilities, elucidate the biological mechanisms, and explore the potential as therapeutic targets of TERT promoter mutations in thyroid cancer.

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Section: Common Occurrence Of Tert Promoter Mutations In Thyroid Cancermentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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TERT promoter mutations in thyroid cancer

Liu¹,

Xing²

2016

Endocrine-Related Cancer

322

301

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“…However, the diagnostic and prognostic utility of TERT promoter mutations in PTC remains controversial and requires additional investigation78. Therefore, we performed a systematic review and meta-analysis to elucidate the association of TERT promoter mutations with clinicopathological characteristics and prognosis in PTC.…”

mentioning

confidence: 99%

TERT promoter Mutation and Its Association with Clinicopathological Features and Prognosis of Papillary Thyroid Cancer: A Meta-analysis

Liu

Chen

et al. 2016

Sci Rep

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We performed a meta-analysis to elucidate the associations of the clinicopathological characteristics and prognostic factors of papillary thyroid cancer (PTC) with TERT promoter mutations. A literature search was performed of the PubMed and EMBASE databases using Medical Subject Headings and keywords. Individual study-specific odds ratios (ORs) and confidence intervals (CIs) were calculated. The average prevalence rate of TERT promoter mutations was 10.1%. TERT promoter mutations occurred more frequently in patients with larger tumors (p = 0.003). TERT promoter mutations were associated with advanced stage (OR = 3.11, 95% CI = 2.22–4.36), lymph node metastasis (OR = 1.82, 95% CI = 1.12–2.96), distant metastasis (OR = 4.18, 95% CI = 1.61–10.81), BRAF mutation positivity (OR = 2.71, 95% CI = 1.45–3.24), recurrence (OR = 3.91, 95% CI = 1.83–8.34), and mortality (OR = 8.13, 95% CI = 3.77–17.53). The associations of TERT promoter mutations with extrathyroidal invasion (OR = 1.98, 95% CI = 0.96–4.07), unifocality (OR = 1.36, 95% CI = 0.90–2.07), and vascular invasion (OR = 1.45, 95% CI = 0.92–2.30) were not significant. TERT promoter mutations are closely associated with aggressive clinicopathological characteristics and poorer prognosis in PTC.

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“…The value of BRAF v600e and other gene MT for predicting aggressive behavior in asymptomatic PTC is controversial. 20,[33][34][35] The verdict regarding the benefits or lack thereof of MT is still pending.…”

Section: When Is Malignant Really Malignant? Are Bethesda Terminologymentioning

confidence: 99%

Overdiagnosis of Thyroid Cancer: Is This Not an Ethical Issue for Pathologists As Well As Radiologists and Clinicians?

Schnadig

2018

Archives of Pathology &Amp; Laboratory Medicine

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TERT Promoter Mutations in Papillary Thyroid Microcarcinomas

Abstract: TERT mutations are present but uncommon in mPTCs. Apparently, in mPTCs, the occurrence of TERT mutations is not correlated with unfavorable clinical features.

Cited by 85 publications

References 25 publications

TERT promoter mutations in thyroid cancer

TERT promoter mutations in thyroid cancer

TERT promoter Mutation and Its Association with Clinicopathological Features and Prognosis of Papillary Thyroid Cancer: A Meta-analysis

Overdiagnosis of Thyroid Cancer: Is This Not an Ethical Issue for Pathologists As Well As Radiologists and Clinicians?

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