DICER1 Syndrome Discovered Through an Eye Tumor-Reference-Cited by-同舟云学术

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DICER1 Syndrome Discovered Through an Eye Tumor

Published:2024-07-01 Issue:7 Volume:142 Page:682
ISSN:2168-6165
Container-title:JAMA Ophthalmology
language:en
Short-container-title:JAMA Ophthalmol

Author:

Fortarezza Francesco¹,Midena Giulia²,Parrozzani Raffaele³,Dei Tos Angelo Paolo¹⁴

Affiliation:

1. University Hospital of Padova, Surgical Pathology and Cytopathology Unit, Padova, Italy

2. IRCCS–Fondazione Bietti, Rome, Italy

3. Department of Ophthalmology, University of Padova, Padova, Italy

4. Department of Medicine-DIMED, University of Padova, Padova, Italy

Abstract

This case report describes a patient with medulloepithelioma of the ciliary body that was subsequently diagnosed as DICER1 syndrome.

Publisher

American Medical Association (AMA)

Link

https://jamanetwork.com/journals/jamaophthalmology/articlepdf/2819218/jamaophthalmology_fortarezza_2024_lo_240007_1719935972.7275.pdf

Reference5 articles.

1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.;Richards;Genet Med,2015

2. DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma.;González;Mod Pathol,2022

3. Ciliary body medulloepithelioma: analysis of 41 cases.;Kaliki;Ophthalmology,2013

4. Ciliary body medulloepithelioma: four cases associated with pleuropulmonary blastoma–a report from the International Pleuropulmonary Blastoma Registry.;Priest;Br J Ophthalmol,2011

5. Ciliary body medulloepithelioma association with pleuropulmonary blastoma in a familial tumor predisposition syndrome.;Kramer;J Pediatr Ophthalmol Strabismus,2014

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