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DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk

DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk

Authors :
Anna Maria Caroleo
Maria Antonietta De Ioris
Luigi Boccuto
Iside Alessi
Giada Del Baldo
Antonella Cacchione
Emanuele Agolini
Martina Rinelli
Annalisa Serra
Andrea Carai
Angela Mastronuzzi
Source :
Frontiers in Oncology, Vol 10 (2021)
Publication Year :
2021
Publisher :
Frontiers Media S.A., 2021.

Abstract

DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused by variants in the DICER1 gene. The risk to present a neoplasm before the age of 10 years is 5.3 and 31.5% before the age of 60. DICER1 variants have been associated with a syndrome involving familial pleuropulmonary blastoma (PPB), a rare malignant tumor of the lung, which occurs primarily in children under the age of 6 years and represents the most common life-threatening manifestation of DICER1 syndrome. Type I, II, III, and Ir (type I regressed) PPB are reported with a 5-year overall survival ranging from 53 to 100% (for type Ir). DICER1 gene should be screened in all patients with PPB and considered in other tumors mainly in thyroid neoplasms (multinodular goiter, thyroid cancer, adenomas), ovarian tumors (Sertoli-Leydig cell tumor, sarcoma, and gynandroblastoma), and cystic nephroma. A prompt identification of this syndrome is necessary to plan a correct follow-up and screening during lifetime.

Details

Language :
English
ISSN :
2234943X
Volume :
10
Database :
Directory of Open Access Journals
Journal :
Frontiers in Oncology
Publication Type :
Academic Journal
Accession number :
edsdoj.99279d2323e40a2be20bca90ad62938
Document Type :
article
Full Text :
https://doi.org/10.3389/fonc.2020.614541