Journal article

DICER1 pleuropulmonary blastoma familial tumour predisposition syndrome: What the paediatric urologist needs to know

Alice Faure, John Atkinson, Aurore Bouty, Mike O'Brien, Guillaume Levard, John Hutson, Yves Heloury

JOURNAL OF PEDIATRIC UROLOGY | ELSEVIER SCI LTD | Published : 2016

Abstract

INTRODUCTION: Germline-inactivating DICER1 mutations are responsible of a familial tumour susceptibility syndrome with an increased risk of tumours, mainly pleuropulmonary blastoma (PPB). DICER1 mutations also cause a range of other tumours, some of them in urogenital organs (cystic nephroma [CN], ovarian sex cord-stromal tumours, bladder and cervix embryonal rhabdomyosarcoma [ERMS]). OBJECTIVE: The aim was to clarify the range of urogenital phenotypes associated with DICER1 mutations and to give practical course of action to paediatric urologist that are exposed to DICER1-related conditions. STUDY DESIGN: A literature review was performed. Pertinent papers focused on urogenital diseases ass..

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