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Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys
Thyroid cancer is the malignant tumor that is increasing most rapidly in the world, mainly at the expense of sporadic papillary thyroid carcinoma. The somatic alterations involved in the pathogenesis of sporadic follicular cell derived tumors are well recognized, while the predisposing alterations i...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8918666/ https://www.ncbi.nlm.nih.gov/pubmed/35295987 http://dx.doi.org/10.3389/fendo.2022.829103 |
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author | Sánchez-Ares, María Cameselle-García, Soledad Abdulkader-Nallib, Ihab Rodríguez-Carnero, Gemma Beiras-Sarasquete, Carolina Puñal-Rodríguez, José Antonio Cameselle-Teijeiro, José Manuel |
author_facet | Sánchez-Ares, María Cameselle-García, Soledad Abdulkader-Nallib, Ihab Rodríguez-Carnero, Gemma Beiras-Sarasquete, Carolina Puñal-Rodríguez, José Antonio Cameselle-Teijeiro, José Manuel |
author_sort | Sánchez-Ares, María |
collection | PubMed |
description | Thyroid cancer is the malignant tumor that is increasing most rapidly in the world, mainly at the expense of sporadic papillary thyroid carcinoma. The somatic alterations involved in the pathogenesis of sporadic follicular cell derived tumors are well recognized, while the predisposing alterations implicated in hereditary follicular tumors are less well known. Since the genetic background of syndromic familial non-medullary carcinoma has been well established, here we review the pathogenesis of non-syndromic familial non-medullary carcinoma emphasizing those aspects that may be useful in clinical and pathological diagnosis. Non-syndromic familial non-medullary carcinoma has a complex and heterogeneous genetic basis involving several genes and loci with a monogenic or polygenic inheritance model. Most cases are papillary thyroid carcinoma (classic and follicular variant), usually accompanied by benign thyroid nodules (follicular thyroid adenoma and/or multinodular goiter). The possible diagnostic and prognostic usefulness of the changes in the expression and/or translocation of various proteins secondary to several mutations reported in this setting requires further confirmation. Given that non-syndromic familial non-medullary carcinoma and sporadic non-medullary thyroid carcinoma share the same morphology and somatic mutations, the same targeted therapies could be used at present, if necessary, until more specific targeted treatments become available. |
format | Online Article Text |
id | pubmed-8918666 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-89186662022-03-15 Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys Sánchez-Ares, María Cameselle-García, Soledad Abdulkader-Nallib, Ihab Rodríguez-Carnero, Gemma Beiras-Sarasquete, Carolina Puñal-Rodríguez, José Antonio Cameselle-Teijeiro, José Manuel Front Endocrinol (Lausanne) Endocrinology Thyroid cancer is the malignant tumor that is increasing most rapidly in the world, mainly at the expense of sporadic papillary thyroid carcinoma. The somatic alterations involved in the pathogenesis of sporadic follicular cell derived tumors are well recognized, while the predisposing alterations implicated in hereditary follicular tumors are less well known. Since the genetic background of syndromic familial non-medullary carcinoma has been well established, here we review the pathogenesis of non-syndromic familial non-medullary carcinoma emphasizing those aspects that may be useful in clinical and pathological diagnosis. Non-syndromic familial non-medullary carcinoma has a complex and heterogeneous genetic basis involving several genes and loci with a monogenic or polygenic inheritance model. Most cases are papillary thyroid carcinoma (classic and follicular variant), usually accompanied by benign thyroid nodules (follicular thyroid adenoma and/or multinodular goiter). The possible diagnostic and prognostic usefulness of the changes in the expression and/or translocation of various proteins secondary to several mutations reported in this setting requires further confirmation. Given that non-syndromic familial non-medullary carcinoma and sporadic non-medullary thyroid carcinoma share the same morphology and somatic mutations, the same targeted therapies could be used at present, if necessary, until more specific targeted treatments become available. Frontiers Media S.A. 2022-02-28 /pmc/articles/PMC8918666/ /pubmed/35295987 http://dx.doi.org/10.3389/fendo.2022.829103 Text en Copyright © 2022 Sánchez-Ares, Cameselle-García, Abdulkader-Nallib, Rodríguez-Carnero, Beiras-Sarasquete, Puñal-Rodríguez and Cameselle-Teijeiro https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Endocrinology Sánchez-Ares, María Cameselle-García, Soledad Abdulkader-Nallib, Ihab Rodríguez-Carnero, Gemma Beiras-Sarasquete, Carolina Puñal-Rodríguez, José Antonio Cameselle-Teijeiro, José Manuel Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys |
title | Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys |
title_full | Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys |
title_fullStr | Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys |
title_full_unstemmed | Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys |
title_short | Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys |
title_sort | susceptibility genes and chromosomal regions associated with non-syndromic familial non-medullary thyroid carcinoma: some pathogenetic and diagnostic keys |
topic | Endocrinology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8918666/ https://www.ncbi.nlm.nih.gov/pubmed/35295987 http://dx.doi.org/10.3389/fendo.2022.829103 |
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