Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma.
Eur J Med Genet
; 56(12): 643-7, 2013 Dec.
Article
en En
| MEDLINE
| ID: mdl-24161495
ABSTRACT
This report concerns a 3-year-old girl with prenatal bilateral nephroblastomatosis and a family history of nephroblastoma. This girl had a chromosome 8 pericentric inversion inherited from her father. This inversion was observed in healthy individuals of the family and was absent in other individuals suffering from embryonic kidney tumor. We then supposed that another genetic anomaly predisposed her to tumorogenesis. Additional cryptic imbalances are reported in cases of apparently balanced chromosomal rearrangements with an abnormal phenotype. Array-CGH analysis showed a 569 kb duplication at 2p24.3 including the DDX1 and MYCN genes. This duplication was inherited from the patient's father who also had a nephroblastoma. A link between germline MYCN duplication and the occurrence of other embryonic cancers such as neuroblastoma has already been described. We supposed that germline DDX1-MYCN duplication could also be involved in the apparition of nephroblastomas.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas Nucleares
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Proteínas Oncogénicas
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Mutación de Línea Germinal
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Tumor de Wilms
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Duplicación de Gen
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ARN Helicasas DEAD-box
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Neoplasias Renales
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
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Child, preschool
/
Female
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Humans
/
Male
Idioma:
En
Revista:
Eur J Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2013
Tipo del documento:
Article
País de afiliación:
Francia