Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma.

Alice Fievet (1) , Marc-Antoine Belaud-Rotureau (1, 2) , Frédéric Dugay (1, 2) , Caroline Abadie (3) , Catherine Henry (1) , Sophie Taque (4) , Joris Andrieux (5) , Serge Guyetant , Michel Robert , Christèle Dubourg (2) , Christine Edan (4) , Nathalie Rioux-Leclercq (6) , Sylvie Odent (2) , Sylvie Jaillard (1)

1 Service de Cytogénétique et de Biologie Cellulaire
2 IGDR - Institut de Génétique et Développement de Rennes
3 Service de génétique clinique [Rennes]
4 Unité d'Hématologie et de Cancérologie Pédiatriques
5 Laboratoire de Génétique Clinique
6 Cancer du rein : bases moléculaires de la tumorogenèse

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.

Mots clés: Wilms tumor; Nephroblastomatosis; MYCN; DDX1; 2p24.3 duplication

Domaines: Génétique; Cancer; Pédiatrie

Alice Fievet, Marc-Antoine Belaud-Rotureau, Frédéric Dugay, Caroline Abadie, Catherine Henry, et al.. Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma.. European Journal of Medical Genetics, 2013, 56 (12), pp.643-7. ⟨10.1016/j.ejmg.2013.10.004⟩. ⟨hal-00933759⟩