Familial cancer · 2017
DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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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
Аннотация
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.
Предметные рубрики MeSH
Child, PreschoolCystsDEAD-box RNA HelicasesEarly Detection of CancerFemaleGenetic Predisposition to DiseaseGenetic TestingGenotypeGerm-Line MutationHumansKidney NeoplasmsLung NeoplasmsNeoplastic Syndromes, HereditaryNephrectomyPatient Education as TopicPneumonectomyPulmonary BlastomaRibonuclease IIITomography, X-Ray ComputedUltrasonography