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

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...

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Bibliographic Details
Published in:Familial cancer 2017-04, Vol.16 (2), p.291-294
Main Authors: Bardón-Cancho, Eduardo J., Haro-Díaz, Ana, Alonso-García-de la Rosa, Francisco J., Huerta-Aragonés, Jorge, García-Morín, Marina, González-Martínez, Felipe, Garrido-Colino, Carmen
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Cancer Research
Child, Preschool
Cysts - diagnosis
Cysts - genetics
DEAD-box RNA Helicases - genetics
Early Detection of Cancer - methods
Epidemiology
Female
Genetic Predisposition to Disease
Genetic Testing
Genotype
Germ-Line Mutation
Human Genetics
Humans
Kidney Neoplasms - diagnosis
Kidney Neoplasms - genetics
Kidney Neoplasms - pathology
Kidney Neoplasms - surgery
Lung Neoplasms - diagnosis
Lung Neoplasms - genetics
Lung Neoplasms - pathology
Lung Neoplasms - surgery
Neoplastic Syndromes, Hereditary - diagnosis
Neoplastic Syndromes, Hereditary - genetics
Nephrectomy
Patient Education as Topic
Pneumonectomy
Pulmonary Blastoma - diagnosis
Pulmonary Blastoma - genetics
Ribonuclease III - genetics
Short Communication
Tomography, X-Ray Computed
Ultrasonography
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Description
Summary: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.
ISSN:1389-9600
1573-7292
DOI:10.1007/s10689-016-9949-6