Histopathological Characterization and Whole Exome Sequencing of Ectopic Thyroid: Fetal Architecture in a Functional Ectopic Gland from Adult Patient

Ectopic thyroid results from a migration defect of the developing gland during embryogenesis causing congenital hypothyroidism. But it has also been detected in asymptomatic individuals. This study aimed to investigate the histopathological, functional, and genetic features of human ectopic thyroids...

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Main Authors: Rosalinda Yasato Camargo, Cristina Takami Kanamura, Celso Ubirajara Friguglietti, Célia Regina Nogueira, Sonia Iorcansky, Alfio José Tincani, Ana Karina Bezerra, Ester Brust, Fernanda Christtanini Koyama, Anamaria Aranha Camargo, Fernanda Orpinelli R. Rego, Pedro Alexandre Favoretto Galante, Geraldo Medeiros-Neto, Ileana Gabriela Sanchez Rubio
Format: Article
Language:English
Published: Wiley 2018-01-01
Series:International Journal of Endocrinology
Online Access:http://dx.doi.org/10.1155/2018/4682876
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author Rosalinda Yasato Camargo
Cristina Takami Kanamura
Celso Ubirajara Friguglietti
Célia Regina Nogueira
Sonia Iorcansky
Alfio José Tincani
Ana Karina Bezerra
Ester Brust
Fernanda Christtanini Koyama
Anamaria Aranha Camargo
Fernanda Orpinelli R. Rego
Pedro Alexandre Favoretto Galante
Geraldo Medeiros-Neto
Ileana Gabriela Sanchez Rubio
author_facet Rosalinda Yasato Camargo
Cristina Takami Kanamura
Celso Ubirajara Friguglietti
Célia Regina Nogueira
Sonia Iorcansky
Alfio José Tincani
Ana Karina Bezerra
Ester Brust
Fernanda Christtanini Koyama
Anamaria Aranha Camargo
Fernanda Orpinelli R. Rego
Pedro Alexandre Favoretto Galante
Geraldo Medeiros-Neto
Ileana Gabriela Sanchez Rubio
author_sort Rosalinda Yasato Camargo
collection DOAJ
description Ectopic thyroid results from a migration defect of the developing gland during embryogenesis causing congenital hypothyroidism. But it has also been detected in asymptomatic individuals. This study aimed to investigate the histopathological, functional, and genetic features of human ectopic thyroids. Six samples were histologically examined, and the expression of the specific thyroid proteins was assessed by immunohistochemistry. Two samples were submitted to whole exome sequencing. An oropharynx sample showed immature fetal architecture tissue with clusters or cords of oval thyrocytes and small follicles; one sample exhibited a normal thyroid pattern while four showed colloid goiter. All ectopic thyroids expressed the specific thyroid genes and T4 at similar locations to those observed in normal thyroid. No somatic mutations associated with ectopic thyroid were found. This is the first immature thyroid fetal tissue observed in an ectopic thyroid due to the arrest of structural differentiation early in the colloid stage of development that proved able to synthesize thyroid hormone but not to respond to TSH. Despite the ability of all ectopic thyroids to synthetize specific thyroid proteins and T4, at some point in life, it may be insufficient to support body growth leading to hypothyroidism, as observed in some of the patients.
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spelling doaj-art-5a62004b32e44bc9a1f7582f1da35ae32025-02-03T05:52:01ZengWileyInternational Journal of Endocrinology1687-83371687-83452018-01-01201810.1155/2018/46828764682876Histopathological Characterization and Whole Exome Sequencing of Ectopic Thyroid: Fetal Architecture in a Functional Ectopic Gland from Adult PatientRosalinda Yasato Camargo0Cristina Takami Kanamura1Celso Ubirajara Friguglietti2Célia Regina Nogueira3Sonia Iorcansky4Alfio José Tincani5Ana Karina Bezerra6Ester Brust7Fernanda Christtanini Koyama8Anamaria Aranha Camargo9Fernanda Orpinelli R. Rego10Pedro Alexandre Favoretto Galante11Geraldo Medeiros-Neto12Ileana Gabriela Sanchez Rubio13Thyroid Unit, Cellular and Molecular Endocrine Laboratory, LIM-25, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Avenida Doutor Arnaldo 455, Cerqueira César, 01246-904 São Paulo, SP, BrazilAdolfo Lutz Institute, São Paulo Public Health Service, Av. Dr. Arnaldo 355, Cerqueira César, 01246-000 São Paulo, SP, BrazilHead and Neck Surgery of Santa Catarina Hospital, Av. Paulista 200, Bela Vista, 01310-000 São Paulo, SP, BrazilDepartment of Internal Medicine, Botucatu School of Medicine, UNESP, Av. Prof. Montenegro, s/n Distrito de Rubião Junior, 18618-687 Botucatu, SP, BrazilServicio de Endocrinología, Hospital de Pediatría Dr. Juan Garrahan, Combate de los Pozos 1881, C1245AAM Buenos Aires, ArgentinaDepartamento de Cirurgia na Disciplina de Cirurgia de Cabeça e Pescoço da Faculdade de Ciências Médicas da UNICAMP, R. Tessália Vieira de Camargo 126, 13083-887 Campinas, SP, BrazilMedicine School, Universidade de Fortaleza (Unifor), Av. Washington Soares 1321, Edson Queiroz, 60811-905 Fortaleza, CE, BrazilPostgraduate Program in Biotechnology, Universidade Federal de São Paulo (UNIFESP), Pedro de Toledo 669, 040399-032 São Paulo, SP, BrazilMolecular Oncology Center, Hospital Sírio-Libanés, Rua Prof. Daher Cutait 69, 01308-060 São Paulo, SP, BrazilMolecular Oncology Center, Hospital Sírio-Libanés, Rua Prof. Daher Cutait 69, 01308-060 São Paulo, SP, BrazilMolecular Oncology Center, Hospital Sírio-Libanés, Rua Prof. Daher Cutait 69, 01308-060 São Paulo, SP, BrazilMolecular Oncology Center, Hospital Sírio-Libanés, Rua Prof. Daher Cutait 69, 01308-060 São Paulo, SP, BrazilThyroid Unit, Cellular and Molecular Endocrine Laboratory, LIM-25, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Avenida Doutor Arnaldo 455, Cerqueira César, 01246-904 São Paulo, SP, BrazilPostgraduate Program in Biotechnology, Universidade Federal de São Paulo (UNIFESP), Pedro de Toledo 669, 040399-032 São Paulo, SP, BrazilEctopic thyroid results from a migration defect of the developing gland during embryogenesis causing congenital hypothyroidism. But it has also been detected in asymptomatic individuals. This study aimed to investigate the histopathological, functional, and genetic features of human ectopic thyroids. Six samples were histologically examined, and the expression of the specific thyroid proteins was assessed by immunohistochemistry. Two samples were submitted to whole exome sequencing. An oropharynx sample showed immature fetal architecture tissue with clusters or cords of oval thyrocytes and small follicles; one sample exhibited a normal thyroid pattern while four showed colloid goiter. All ectopic thyroids expressed the specific thyroid genes and T4 at similar locations to those observed in normal thyroid. No somatic mutations associated with ectopic thyroid were found. This is the first immature thyroid fetal tissue observed in an ectopic thyroid due to the arrest of structural differentiation early in the colloid stage of development that proved able to synthesize thyroid hormone but not to respond to TSH. Despite the ability of all ectopic thyroids to synthetize specific thyroid proteins and T4, at some point in life, it may be insufficient to support body growth leading to hypothyroidism, as observed in some of the patients.http://dx.doi.org/10.1155/2018/4682876
spellingShingle Rosalinda Yasato Camargo
Cristina Takami Kanamura
Celso Ubirajara Friguglietti
Célia Regina Nogueira
Sonia Iorcansky
Alfio José Tincani
Ana Karina Bezerra
Ester Brust
Fernanda Christtanini Koyama
Anamaria Aranha Camargo
Fernanda Orpinelli R. Rego
Pedro Alexandre Favoretto Galante
Geraldo Medeiros-Neto
Ileana Gabriela Sanchez Rubio
Histopathological Characterization and Whole Exome Sequencing of Ectopic Thyroid: Fetal Architecture in a Functional Ectopic Gland from Adult Patient
International Journal of Endocrinology
title Histopathological Characterization and Whole Exome Sequencing of Ectopic Thyroid: Fetal Architecture in a Functional Ectopic Gland from Adult Patient
title_full Histopathological Characterization and Whole Exome Sequencing of Ectopic Thyroid: Fetal Architecture in a Functional Ectopic Gland from Adult Patient
title_fullStr Histopathological Characterization and Whole Exome Sequencing of Ectopic Thyroid: Fetal Architecture in a Functional Ectopic Gland from Adult Patient
title_full_unstemmed Histopathological Characterization and Whole Exome Sequencing of Ectopic Thyroid: Fetal Architecture in a Functional Ectopic Gland from Adult Patient
title_short Histopathological Characterization and Whole Exome Sequencing of Ectopic Thyroid: Fetal Architecture in a Functional Ectopic Gland from Adult Patient
title_sort histopathological characterization and whole exome sequencing of ectopic thyroid fetal architecture in a functional ectopic gland from adult patient
url http://dx.doi.org/10.1155/2018/4682876
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