Minor role of TP53 and TERT promoter mutations in medullary thyroid carcinoma: report of new cases and revision of the literature.

IF 3.7 3区医学 Q2 Medicine

Endocrine Pub Date : 2024-08-23 DOI:10.1007/s12020-024-03990-2

Roberta Casalini, Cristina Romei, Raffaele Ciampi, Teresa Ramone, Alessandro Prete, Carla Gambale, Antonio Matrone, Liborio Torregrossa, Clara Ugolini, Rossella Elisei

{"title":"Minor role of TP53 and TERT promoter mutations in medullary thyroid carcinoma: report of new cases and revision of the literature.","authors":"Roberta Casalini, Cristina Romei, Raffaele Ciampi, Teresa Ramone, Alessandro Prete, Carla Gambale, Antonio Matrone, Liborio Torregrossa, Clara Ugolini, Rossella Elisei","doi":"10.1007/s12020-024-03990-2","DOIUrl":null,"url":null,"abstract":"Purpose: Aims of this study were to investigate the prevalence of TP53 and TERT mutations in Medullary Thyroid carcinoma (MTC) and their role in inducing aggressiveness in positive cases.Methods: We performed a literature search in PubMed to identify studies investigating the prevalence of TERT and TP53 mutations in MTC. We also included data on MTC cases (n = 193) obtained at our center and unpublished. The in-silico pathogenicity of the TP53 mutations has been evaluated by predictor tools.Results: We identified a total of 25 and 11 published papers: all together 1280 cases have been investigated for the presence of TP53 mutations and 974 for TERT promoter mutation. Twenty-five out of 1280 (2%) cases had a TP53 mutation while only 3/974 MTC cases (0.3%) have been found to be positive for TERT promoter mutations. Among all, we identified 19 different TP53 mutations that in 12 cases were demonstrated to have an in silico predicted high pathogenic role and a high impact on protein function. Three non-sense and 4 probably not damaging mutations were also reported. The pathogenic role of the TERT promoter mutations has been previously in vitro determined. No correlation between TP53 and/or TERT mutations and aggressiveness of MTC has been demonstrated.Conclusion: The prevalence of TP53 and TERT promoter mutations is very low in MTC. The reported mutations are pathogenic in the majority of cases. Because of their rarity it is not possible to clarify if they play or not a role in the pathogenesis and/or aggressiveness of this specific thyroid tumor.","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":null,"pages":null},"PeriodicalIF":3.7000,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Endocrine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12020-024-03990-2","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}

引用次数: 0

Abstract

Purpose: Aims of this study were to investigate the prevalence of TP53 and TERT mutations in Medullary Thyroid carcinoma (MTC) and their role in inducing aggressiveness in positive cases.

Methods: We performed a literature search in PubMed to identify studies investigating the prevalence of TERT and TP53 mutations in MTC. We also included data on MTC cases (n = 193) obtained at our center and unpublished. The in-silico pathogenicity of the TP53 mutations has been evaluated by predictor tools.

Results: We identified a total of 25 and 11 published papers: all together 1280 cases have been investigated for the presence of TP53 mutations and 974 for TERT promoter mutation. Twenty-five out of 1280 (2%) cases had a TP53 mutation while only 3/974 MTC cases (0.3%) have been found to be positive for TERT promoter mutations. Among all, we identified 19 different TP53 mutations that in 12 cases were demonstrated to have an in silico predicted high pathogenic role and a high impact on protein function. Three non-sense and 4 probably not damaging mutations were also reported. The pathogenic role of the TERT promoter mutations has been previously in vitro determined. No correlation between TP53 and/or TERT mutations and aggressiveness of MTC has been demonstrated.

Conclusion: The prevalence of TP53 and TERT promoter mutations is very low in MTC. The reported mutations are pathogenic in the majority of cases. Because of their rarity it is not possible to clarify if they play or not a role in the pathogenesis and/or aggressiveness of this specific thyroid tumor.

Abstract Image

查看原文本刊更多论文

TP53和TERT启动子突变在甲状腺髓样癌中的次要作用：新病例报告和文献修订。

目的：本研究旨在调查甲状腺髓样癌（Medullary Thyroid carcinoma，MTC）中TP53和TERT突变的发生率及其在阳性病例中诱导侵袭性的作用：我们在PubMed上进行了文献检索，以确定调查MTC中TERT和TP53突变发生率的研究。我们还纳入了本中心获得的和未发表的 MTC 病例数据（n = 193）。通过预测工具对TP53突变的体内致病性进行了评估：我们共发现了25篇论文和11篇已发表的论文：共对1280个病例进行了TP53突变调查，对974个病例进行了TERT启动子突变调查。1280 个病例中有 25 个（2%）存在 TP53 突变，而只有 3/974 个 MTC 病例（0.3%）发现 TERT 启动子突变阳性。在所有病例中，我们发现了 19 种不同的 TP53 基因突变，其中 12 种基因突变被证实具有高致病作用，并对蛋白质功能有很大影响。此外，还报告了 3 个非义突变和 4 个可能不具有损伤性的突变。TERT 启动子突变的致病作用先前已在体外确定。TP53和/或TERT突变与MTC的侵袭性之间没有相关性：结论：TP53和TERT启动子突变在MTC中的发生率非常低。结论：在 MTC 中，TP53 和 TERT 启动子突变的发生率非常低。由于其罕见性，目前还无法明确它们在这种特殊甲状腺肿瘤的发病机制和/或侵袭性中是否起作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Endocrine 医学-内分泌学与代谢

CiteScore

6.40

自引率

5.40%

发文量

期刊介绍： Well-established as a major journal in today’s rapidly advancing experimental and clinical research areas, Endocrine publishes original articles devoted to basic (including molecular, cellular and physiological studies), translational and clinical research in all the different fields of endocrinology and metabolism. Articles will be accepted based on peer-reviews, priority, and editorial decision. Invited reviews, mini-reviews and viewpoints on relevant pathophysiological and clinical topics, as well as Editorials on articles appearing in the Journal, are published. Unsolicited Editorials will be evaluated by the editorial team. Outcomes of scientific meetings, as well as guidelines and position statements, may be submitted. The Journal also considers special feature articles in the field of endocrine genetics and epigenetics, as well as articles devoted to novel methods and techniques in endocrinology. Endocrine covers controversial, clinical endocrine issues. Meta-analyses on endocrine and metabolic topics are also accepted. Descriptions of single clinical cases and/or small patients studies are not published unless of exceptional interest. However, reports of novel imaging studies and endocrine side effects in single patients may be considered. Research letters and letters to the editor related or unrelated to recently published articles can be submitted. Endocrine covers leading topics in endocrinology such as neuroendocrinology, pituitary and hypothalamic peptides, thyroid physiological and clinical aspects, bone and mineral metabolism and osteoporosis, obesity, lipid and energy metabolism and food intake control, insulin, Type 1 and Type 2 diabetes, hormones of male and female reproduction, adrenal diseases pediatric and geriatric endocrinology, endocrine hypertension and endocrine oncology.