دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre - A National Danish Cohort.
المؤلفون: Altaraihi M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Hansen TVO; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Santoni-Rugiu E; Department of Pathology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Rasmussen ÅK; Department of Endocrinology and Metabolism, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Gerdes AM; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Wadt K; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2021 Sep 06; Vol. 12, pp. 727970. Date of Electronic Publication: 2021 Sep 06 (Print Publication: 2021).
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [Lausanne : Frontiers Research Foundation]
مواضيع طبية MeSH: DEAD-box RNA Helicases/*genetics , Goiter, Nodular/*epidemiology , Goiter, Nodular/*genetics , Ribonuclease III/*genetics, Adult ; Cohort Studies ; Denmark/epidemiology ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Goiter, Nodular/surgery ; Humans ; Male ; Prevalence ; Thyroid Nodule/epidemiology ; Thyroid Nodule/genetics ; Thyroid Nodule/surgery ; Thyroidectomy ; Young Adult
مستخلص: 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.
Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The reviewer KT declared a past collaboration with one of the authors KW to the handling editor.
(Copyright © 2021 Altaraihi, Hansen, Santoni-Rugiu, Rossing, Rasmussen, Gerdes and Wadt.)
References: J Clin Endocrinol Metab. 2018 May 1;103(5):2009-2015. (PMID: 29474644)
Endocr Rev. 2005 Jun;26(4):504-24. (PMID: 15615818)
J Clin Endocrinol Metab. 2019 Feb 1;104(2):277-284. (PMID: 30260442)
F1000Res. 2015 Jul 10;4:214. (PMID: 26925222)
J Clin Endocrinol Metab. 2017 May 1;102(5):1614-1622. (PMID: 28323992)
Am J Clin Pathol. 2018 Mar 29;149(5):379-386. (PMID: 29538609)
J Hum Genet. 2013 Jun;58(6):366-77. (PMID: 23535966)
Gynecol Oncol. 2011 Aug;122(2):246-50. (PMID: 21501861)
Arch Otolaryngol Head Neck Surg. 2002 Apr;128(4):389-92. (PMID: 11926912)
N Engl J Med. 2012 Jan 19;366(3):234-42. (PMID: 22187960)
Hum Pathol. 2017 Jan;59:41-47. (PMID: 27664536)
Am J Hum Genet. 2011 Oct 7;89(4):529-42. (PMID: 21981779)
Int J Cancer. 2017 Nov 15;141(10):2030-2036. (PMID: 28748527)
J Clin Endocrinol Metab. 2014 Jun;99(6):E1072-7. (PMID: 24617712)
J Natl Cancer Inst. 2009 Feb 4;101(3):162-75. (PMID: 19176457)
Hum Mol Genet. 2003 Aug 15;12(16):2003-12. (PMID: 12913071)
Mod Pathol. 2020 Jul;33(7):1264-1274. (PMID: 31937902)
JAMA Netw Open. 2021 Feb 1;4(2):e210112. (PMID: 33630087)
Thyroid. 2002 Oct;12(10):879-88. (PMID: 12487770)
PLoS One. 2013 May 28;8(5):e65141. (PMID: 23724128)
Br J Cancer. 2013 Nov 12;109(10):2744-50. (PMID: 24136150)
Am J Surg Pathol. 2017 Sep;41(9):1178-1187. (PMID: 28654427)
Fam Cancer. 2021 Jun 25;:. (PMID: 34170462)
JAMA. 2011 Jan 5;305(1):68-77. (PMID: 21205968)
Clin Endocrinol (Oxf). 2019 Nov;91(5):669-675. (PMID: 31408196)
Exp Oncol. 2018 Mar;40(1):2-9. (PMID: 29600985)
Histopathology. 2016 Jan;68(2):279-85. (PMID: 26033501)
J Pediatr Endocrinol Metab. 2019 Nov 26;32(11):1265-1273. (PMID: 31430255)
Mod Pathol. 2015 Dec;28(12):1603-12. (PMID: 26428316)
فهرسة مساهمة: Keywords: DICER1 mutation; DICER1 syndrome; goiter; goitre; hereditary cancer; thyroidectomy
المشرفين على المادة: EC 3.1.26.3 (DICER1 protein, human)
EC 3.1.26.3 (Ribonuclease III)
EC 3.6.4.13 (DEAD-box RNA Helicases)
تواريخ الأحداث: Date Created: 20210923 Date Completed: 20220214 Latest Revision: 20220214
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC8451242
DOI: 10.3389/fendo.2021.727970
PMID: 34552563
قاعدة البيانات: MEDLINE
الوصف
تدمد:1664-2392
DOI:10.3389/fendo.2021.727970