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DICER1-Mutated Botryoid Fibroepithelial Polyp of the Parotid Duct: Report of the First Case

DICER1, a member of the ribonuclease III family, is involved in the biogenesis of microRNAs and, hence, it influences gene expression regulation. DICER1 germline (associated with the inherited DICER1 syndrome) or somatic mutations have been linked to tumorigenesis in histogenetically diverse benign...

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Autores principales: Erber, Ramona, Preidl, Raimund, Stoehr, Robert, Haller, Florian, Hartmann, Arndt, Kesting, Marco, Agaimy, Abbas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9187814/
https://www.ncbi.nlm.nih.gov/pubmed/34282560
http://dx.doi.org/10.1007/s12105-021-01364-y
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author Erber, Ramona
Preidl, Raimund
Stoehr, Robert
Haller, Florian
Hartmann, Arndt
Kesting, Marco
Agaimy, Abbas
author_facet Erber, Ramona
Preidl, Raimund
Stoehr, Robert
Haller, Florian
Hartmann, Arndt
Kesting, Marco
Agaimy, Abbas
author_sort Erber, Ramona
collection PubMed
description DICER1, a member of the ribonuclease III family, is involved in the biogenesis of microRNAs and, hence, it influences gene expression regulation. DICER1 germline (associated with the inherited DICER1 syndrome) or somatic mutations have been linked to tumorigenesis in histogenetically diverse benign and malignant neoplasms in different organs including pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, nasal chondromesenchymal hamartoma, poorly differentiated thyroid carcinoma, thyroblastoma, intracranial sarcoma and gonadal Sertoli-Leydig cell tumors in addition to others. Moreover, rare botryoid (giant) fibroepithelial polyps may harbor this mutation. Herein, we describe the first reported case of a DICER1-mutated botryoid fibroepithelial polyp occurring within the parotid duct of a 65-year-old female who has no other features or family history of the DICER1 syndrome. Based on its distinctive morphology, we tested this lesion specifically for DICER1 mutations and confirmed the presence of a pathogenic DICER1 variant with a low allele frequency, consistent with a somatic mutation.
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spelling pubmed-91878142022-06-12 DICER1-Mutated Botryoid Fibroepithelial Polyp of the Parotid Duct: Report of the First Case Erber, Ramona Preidl, Raimund Stoehr, Robert Haller, Florian Hartmann, Arndt Kesting, Marco Agaimy, Abbas Head Neck Pathol Case Reports DICER1, a member of the ribonuclease III family, is involved in the biogenesis of microRNAs and, hence, it influences gene expression regulation. DICER1 germline (associated with the inherited DICER1 syndrome) or somatic mutations have been linked to tumorigenesis in histogenetically diverse benign and malignant neoplasms in different organs including pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, nasal chondromesenchymal hamartoma, poorly differentiated thyroid carcinoma, thyroblastoma, intracranial sarcoma and gonadal Sertoli-Leydig cell tumors in addition to others. Moreover, rare botryoid (giant) fibroepithelial polyps may harbor this mutation. Herein, we describe the first reported case of a DICER1-mutated botryoid fibroepithelial polyp occurring within the parotid duct of a 65-year-old female who has no other features or family history of the DICER1 syndrome. Based on its distinctive morphology, we tested this lesion specifically for DICER1 mutations and confirmed the presence of a pathogenic DICER1 variant with a low allele frequency, consistent with a somatic mutation. Springer US 2021-07-19 /pmc/articles/PMC9187814/ /pubmed/34282560 http://dx.doi.org/10.1007/s12105-021-01364-y Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Case Reports
Erber, Ramona
Preidl, Raimund
Stoehr, Robert
Haller, Florian
Hartmann, Arndt
Kesting, Marco
Agaimy, Abbas
DICER1-Mutated Botryoid Fibroepithelial Polyp of the Parotid Duct: Report of the First Case
title DICER1-Mutated Botryoid Fibroepithelial Polyp of the Parotid Duct: Report of the First Case
title_full DICER1-Mutated Botryoid Fibroepithelial Polyp of the Parotid Duct: Report of the First Case
title_fullStr DICER1-Mutated Botryoid Fibroepithelial Polyp of the Parotid Duct: Report of the First Case
title_full_unstemmed DICER1-Mutated Botryoid Fibroepithelial Polyp of the Parotid Duct: Report of the First Case
title_short DICER1-Mutated Botryoid Fibroepithelial Polyp of the Parotid Duct: Report of the First Case
title_sort dicer1-mutated botryoid fibroepithelial polyp of the parotid duct: report of the first case
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9187814/
https://www.ncbi.nlm.nih.gov/pubmed/34282560
http://dx.doi.org/10.1007/s12105-021-01364-y
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