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01-04-2017 | Short Communication

DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations

Authors: Eduardo J. Bardón-Cancho, Ana Haro-Díaz, Francisco J. Alonso-García-de la Rosa, Jorge Huerta-Aragonés, Marina García-Morín, Felipe González-Martínez, Carmen Garrido-Colino

Published in: Familial Cancer | Issue 2/2017

Abstract

The familial tumor predisposition syndrome known as DICER1-pleuropulmonary blastoma (PPB) or DICER1 tumor predisposition syndrome was first described in 2009, and it involves an increased risk in the occurrence of various tumors, like cystic nephroma and PPB. Here is presented a girl with a cystic nephroma and two cystic lung lesions who was diagnosed years later with the DICER1 gene mutation. This mutation was also found in one of her parents. Thus, the screening for the DICER1 gene mutation may be important in children with certain/multiple tumors and their families.

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Title: DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations
Authors: Eduardo J. Bardón-Cancho
Ana Haro-Díaz
Francisco J. Alonso-García-de la Rosa
Jorge Huerta-Aragonés
Marina García-Morín
Felipe González-Martínez
Carmen Garrido-Colino
Publication date: 01-04-2017
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 2/2017
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-016-9949-6

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