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

Erber R, Preidl R, Stöhr R, Haller F, Hartmann A, Kesting MR, Agaimy A (2021)

Publication Type: Journal article

Publication year: 2021

Journal

Head and Neck Pathology Springer

DOI: 10.1007/s12105-021-01364-y

Abstract

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.

Authors with CRIS profile

Ramona Erber Institute of Pathology Raimund Preidl Department of Oral and Cranio-Maxillofacial Surgery Florian Haller Professur für Diagnostische Molekularpathologie Arndt Hartmann Lehrstuhl für Allgemeine Pathologie und Pathologische Anatomie Marco Rainer Kesting Lehrstuhl für Zahnmedizin, insbesondere Mund-, Kiefer-, und Gesichtschirurgie Abbas Agaimy Lehrstuhl für Allgemeine Pathologie und Pathologische Anatomie

How to cite

APA:

Erber, R., Preidl, R., Stöhr, R., Haller, F., Hartmann, A., Kesting, M.R., & Agaimy, A. (2021). DICER1-Mutated Botryoid Fibroepithelial Polyp of the Parotid Duct: Report of the First Case. Head and Neck Pathology. https://dx.doi.org/10.1007/s12105-021-01364-y

MLA:

Erber, Ramona, et al. "DICER1-Mutated Botryoid Fibroepithelial Polyp of the Parotid Duct: Report of the First Case." Head and Neck Pathology (2021).

BibTeX: Download