Heritable retinoblastoma and accelerated aortic valve disease.
BMJ Case Rep
; 20132013 Apr 16.
Article
em En
| MEDLINE
| ID: mdl-23595191
ABSTRACT
Heritable retinoblastoma is associated with a germline mutation in the tumour suppressor gene RBI. The Rb protein (pRb) arises from the RB1 gene, which was the first demonstrated cancer susceptibility gene in humans. Second primary malignancies are recognised complications of retinoblastoma. Furthermore, pRb is implicated in valve remodelling in calcific aortic valve disease. We report a family with hereditary retinoblastoma and associated secondary primary malignancies. There are two interesting aspects to this family. The first is the concept of 'cancer susceptibility genes'; the RBI gene being the first reported in humans. A further feature of note is that two family members also have bicuspid aortic valves. We discuss a potential association between the gene defect responsible for retinoblastoma (with its associated propensity for further malignancies) and accelerated deterioration of the bicuspid aortic valve in the proband carrying this gene defect.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Valva Aórtica
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Retinoblastoma
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Neoplasias Parotídeas
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Proteína do Retinoblastoma
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Carcinoma de Células Acinares
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Doenças das Valvas Cardíacas
Limite:
Adolescent
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Adult
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Humans
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Infant
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Male
Idioma:
En
Revista:
BMJ Case Rep
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Reino Unido