Expanding the spectrum of thyroid carcinoma with somatic DICER1 mutation: A survey of 829 thyroid carcinomas using MSK-IMPACT next-generation sequencing platform Journal Article

   

Authors:	Ghossein, C. A.; Dogan, S.; Farhat, N.; Landa, I.; Xu, B.
Article Title:	Expanding the spectrum of thyroid carcinoma with somatic DICER1 mutation: A survey of 829 thyroid carcinomas using MSK-IMPACT next-generation sequencing platform
Abstract:	DICER1 gene encodes an RNaseIII endoribonuclease essential for the cleavage of pre-microRNA to mature microRNA. Germline DICER1 mutation results in DICER syndrome, a cancer predisposition syndrome which manifests in the thyroid gland as early-onset multinodular goiter and increased risk for differentiated thyroid carcinoma. Recently, somatic DICER1 mutations were described in various thyroid neoplasms, including follicular adenoma, papillary thyroid carcinoma, follicular carcinoma, and poorly differentiated thyroid carcinoma. In this study, we identified and described 14 cases (1.7%) with somatic DICER1 mutations from a cohort of 829 patients with thyroid follicular cell-derived thyroid carcinomas which were sequenced using MSK-IMPACT targeted next-generation sequencing platform. We expanded the histologic spectrum of thyroid carcinomas with somatic DICER1 mutations to include Hurthle cell carcinoma, high-grade differentiated thyroid carcinoma, and anaplastic thyroid carcinoma. All patients were adults with a median age of diagnosis of 59 years (range: 22–82). Although rare, a subset of thyroid cancers, including the aggressive subtypes, display somatic DICER1 mutations, some of which have oncogenic potential. © 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
Keywords:	adult; aged; aged, 80 and over; middle aged; young adult; genetics; mutation; adenocarcinoma; microrna; pathology; dead box protein; dead-box rna helicases; carcinoma; thyroid carcinoma; thyroid neoplasms; micrornas; thyroid tumor; adenocarcinoma, follicular; germ-line mutation; ribonuclease iii; dicer1 protein, human; germline mutation; papillary thyroid carcinoma; high throughput sequencing; high-throughput nucleotide sequencing; very elderly; humans; human; dicer1; poorly differentiated thyroid carcinoma
Journal Title:	Virchows Archiv
Volume:	480
Issue:	2
ISSN:	0945-6317
Publisher:	Springer
Date Published:	2022-02-01
Start Page:	293
End Page:	302
Language:	English
DOI:	10.1007/s00428-021-03212-4
PUBMED:	34580763
PROVIDER:	scopus
PMCID:	PMC10126990
DOI/URL:	https://www.scopus.com/inward/record.uri?eid=2-s2.0-85115826469&doi=10.1007%2fs00428-021-03212-4&partnerID=40&md5=8fce3a671c5175d1a4c07147ce1b4d1f
Notes:	Article -- Export Date: 25 April 2022 -- Source: Scopus

https://synapse.mskcc.org/synapse/works/has_related_data_chk/194037