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

Mays Altaraihi; Thomas van Overeem  Hansen; Eric Santoni Rugiu; Maria Rossing; Åse Krogh Rasmussen; Anne-Marie Gerdes; Karin Anna Wallentin Wadt

doi:10.3389/fendo.2021.727970

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

Mays Altaraihi, Thomas van Overeem Hansen, Eric Santoni Rugiu, Maria Rossing, Åse Krogh Rasmussen, Anne-Marie Gerdes, Karin Anna Wallentin Wadt

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

8 Citationer (Scopus)

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Abstract

IntroductionDICER1 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.MethodsDanish 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.ResultsSix of 46 individuals, 13% (CI [3.3;22.7], p 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).ConclusionsWe recommend referral of patients thyroidectomised due to goitre aged

Originalsprog	Engelsk
Artikelnummer	727970
Tidsskrift	Frontiers in Endocrinology
Vol/bind	12
Antal sider	7
ISSN	1664-2392
DOI	https://doi.org/10.3389/fendo.2021.727970
Status	Udgivet - 2021

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10.3389/fendo.2021.727970Licens: CC BY

FulltextForlagets udgivne version, 707 KBLicens: CC BY

Citationsformater

@article{2372a634d56d441d83c0358909dc3b16,

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

abstract = "IntroductionDICER1 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.MethodsDanish 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.ResultsSix of 46 individuals, 13% (CI [3.3;22.7], p 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).ConclusionsWe recommend referral of patients thyroidectomised due to goitre aged ",

author = "Mays Altaraihi and Hansen, {Thomas van Overeem} and {Santoni Rugiu}, Eric and Maria Rossing and Rasmussen, {{\AA}se Krogh} and Anne-Marie Gerdes and Wadt, {Karin Anna Wallentin}",

year = "2021",

doi = "10.3389/fendo.2021.727970",

language = "English",

volume = "12",

journal = "Frontiers in Endocrinology",

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TY - JOUR

T1 - Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre – A National Danish Cohort

AU - Altaraihi, Mays

AU - Hansen, Thomas van Overeem

AU - Santoni Rugiu, Eric

AU - Rossing, Maria

AU - Rasmussen, Åse Krogh

AU - Gerdes, Anne-Marie

AU - Wadt, Karin Anna Wallentin

PY - 2021

Y1 - 2021

N2 - IntroductionDICER1 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.MethodsDanish 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.ResultsSix of 46 individuals, 13% (CI [3.3;22.7], p 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).ConclusionsWe recommend referral of patients thyroidectomised due to goitre aged

AB - IntroductionDICER1 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.MethodsDanish 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.ResultsSix of 46 individuals, 13% (CI [3.3;22.7], p 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).ConclusionsWe recommend referral of patients thyroidectomised due to goitre aged

U2 - 10.3389/fendo.2021.727970

DO - 10.3389/fendo.2021.727970

M3 - Journal article

C2 - 34552563

SN - 1664-2392

VL - 12

JO - Frontiers in Endocrinology

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ER -