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Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre – A National Danish Cohort

INTRODUCTION: DICER1 syndrome encompasses a variety of benign and malignant manifestations including multinodular goitre, which is the most common manifestation among individuals carrying pathogenic DICER1 variants. This is the first study estimating the prevalence of pathogenic DICER1 variants in y...

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Autores principales: Altaraihi, Mays, Hansen, Thomas van Overeem, Santoni-Rugiu, Eric, Rossing, Maria, Rasmussen, Åse Krogh, Gerdes, Anne-Marie, Wadt, Karin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8451242/
https://www.ncbi.nlm.nih.gov/pubmed/34552563
http://dx.doi.org/10.3389/fendo.2021.727970
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author Altaraihi, Mays
Hansen, Thomas van Overeem
Santoni-Rugiu, Eric
Rossing, Maria
Rasmussen, Åse Krogh
Gerdes, Anne-Marie
Wadt, Karin
author_facet Altaraihi, Mays
Hansen, Thomas van Overeem
Santoni-Rugiu, Eric
Rossing, Maria
Rasmussen, Åse Krogh
Gerdes, Anne-Marie
Wadt, Karin
author_sort Altaraihi, Mays
collection PubMed
description INTRODUCTION: DICER1 syndrome encompasses a variety of benign and malignant manifestations including multinodular goitre, which is the most common manifestation among individuals carrying pathogenic DICER1 variants. This is the first study estimating the prevalence of pathogenic DICER1 variants in young individuals with multinodular goitre. METHODS: Danish individuals diagnosed with nodular goitre based on thyroidectomy samples in 2001-2016 with the age limit at time of operation being ≤ 25 years were offered germline DICER1 gene testing. RESULTS: Six of 46 individuals, 13% (CI [3.3;22.7], p <0.05), diagnosed with nodular goitre on the basis of thyroidectomy samples under the age of 25 years had pathogenic germline variants in DICER1. They were found in different pathoanatomical nodular goitre cohorts i.e. nodular goitre (n=2), colloid nodular goitre (n=3) and hyperplastic nodular goitre (n=1). CONCLUSIONS: We recommend referral of patients thyroidectomised due to goitre aged <21 years and patients thyroidectomised due to goitre aged <25 years with a family history of goitre to genetic counselling. Patients of all ages thyroidectomised due to goitre, who are affected by another DICER1 manifestation should be referred to genetic counselling.
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spelling pubmed-84512422021-09-21 Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre – A National Danish Cohort Altaraihi, Mays Hansen, Thomas van Overeem Santoni-Rugiu, Eric Rossing, Maria Rasmussen, Åse Krogh Gerdes, Anne-Marie Wadt, Karin Front Endocrinol (Lausanne) Endocrinology INTRODUCTION: DICER1 syndrome encompasses a variety of benign and malignant manifestations including multinodular goitre, which is the most common manifestation among individuals carrying pathogenic DICER1 variants. This is the first study estimating the prevalence of pathogenic DICER1 variants in young individuals with multinodular goitre. METHODS: Danish individuals diagnosed with nodular goitre based on thyroidectomy samples in 2001-2016 with the age limit at time of operation being ≤ 25 years were offered germline DICER1 gene testing. RESULTS: Six of 46 individuals, 13% (CI [3.3;22.7], p <0.05), diagnosed with nodular goitre on the basis of thyroidectomy samples under the age of 25 years had pathogenic germline variants in DICER1. They were found in different pathoanatomical nodular goitre cohorts i.e. nodular goitre (n=2), colloid nodular goitre (n=3) and hyperplastic nodular goitre (n=1). CONCLUSIONS: We recommend referral of patients thyroidectomised due to goitre aged <21 years and patients thyroidectomised due to goitre aged <25 years with a family history of goitre to genetic counselling. Patients of all ages thyroidectomised due to goitre, who are affected by another DICER1 manifestation should be referred to genetic counselling. Frontiers Media S.A. 2021-09-06 /pmc/articles/PMC8451242/ /pubmed/34552563 http://dx.doi.org/10.3389/fendo.2021.727970 Text en Copyright © 2021 Altaraihi, Hansen, Santoni-Rugiu, Rossing, Rasmussen, Gerdes and Wadt 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
Altaraihi, Mays
Hansen, Thomas van Overeem
Santoni-Rugiu, Eric
Rossing, Maria
Rasmussen, Åse Krogh
Gerdes, Anne-Marie
Wadt, Karin
Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre – A National Danish Cohort
title Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre – A National Danish Cohort
title_full Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre – A National Danish Cohort
title_fullStr Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre – A National Danish Cohort
title_full_unstemmed Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre – A National Danish Cohort
title_short Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre – A National Danish Cohort
title_sort prevalence of pathogenic germline dicer1 variants in young individuals thyroidectomised due to goitre – a national danish cohort
topic Endocrinology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8451242/
https://www.ncbi.nlm.nih.gov/pubmed/34552563
http://dx.doi.org/10.3389/fendo.2021.727970
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