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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...

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Autores principales: Sánchez-Ares, María, Cameselle-García, Soledad, Abdulkader-Nallib, Ihab, Rodríguez-Carnero, Gemma, Beiras-Sarasquete, Carolina, Puñal-Rodríguez, José Antonio, Cameselle-Teijeiro, José Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
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.
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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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