title: Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma.
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.
authors.affiliation: Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France.
authors.forename: Alice
authors.initials: A
authors.lastname: Fievet
authors.forename: Marc-Antoine
authors.initials: MA
authors.lastname: Belaud-Rotureau
authors.forename: Frédéric
authors.initials: F
authors.lastname: Dugay
authors.forename: Caroline
authors.initials: C
authors.lastname: Abadie
authors.forename: Catherine
authors.initials: C
authors.lastname: Henry
authors.forename: Sophie
authors.initials: S
authors.lastname: Taque
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.forename: Serge
authors.initials: S
authors.lastname: Guyetant
authors.forename: Michel
authors.initials: M
authors.lastname: Robert
authors.forename: Christèle
authors.initials: C
authors.lastname: Dubourg
authors.forename: Christine
authors.initials: C
authors.lastname: Edan
authors.forename: Nathalie
authors.initials: N
authors.lastname: Rioux-Leclercq
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
authors.forename: Sylvie
authors.initials: S
authors.lastname: Jaillard
mesh_terms: D000328:Adult; D063646:Carcinogenesis / Q000235:genetics; D002675:Child, Preschool; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins / Q000235:genetics*; D015513:Oncogene Proteins / Q000235:genetics*; D010375:Pedigree; D009396:Wilms Tumor / Q000175:diagnosis / Q000235:genetics*
chemical_list: C459801:MYCN protein, human; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins; D015513:Oncogene Proteins; C086252:DDX1 protein, human; D053487:DEAD-box RNA Helicases
keywords: 2p24.3 duplication; DDX1; MYCN; Nephroblastomatosis; Wilms tumor