title: Development of anaplastic Wilms tumor and subsequent relapse in a child with diaphanospondylodysostosis.
abstract: Diaphanospondylodysostosis (DSD) is a rare skeletal dysplasia syndrome resulting from disordered mesenchymal differentiation. Children with DSD generally die in utero or during the first month of life from severe thoracic insufficiency syndrome. An association of DSD with nephroblastomatosis has been observed, but the natural history of such nephroblastomatosis remains poorly characterized due to the rarity of the underlying condition. We describe a patient with DSD who developed bilateral hyperplastic nephroblastomatosis that ultimately evolved into therapy-resistant anaplastic Wilms tumor (nephroblastoma).
authors.affiliation: Department of Pediatrics, Division of Pediatric Hematology-Oncology, University of California, San Francisco School of Medicine, San Francisco, CA, USA. tasians@email.chop.edu
authors.forename: Sarah K
authors.initials: SK
authors.lastname: Tasian
authors.forename: Grace E
authors.initials: GE
authors.lastname: Kim
authors.forename: Douglas N
authors.initials: DN
authors.lastname: Miniati
authors.forename: Steven G
authors.initials: SG
authors.lastname: DuBois
mesh_terms: D002352:Carrier Proteins / Q000235:genetics; D002675:Child, Preschool; D004413:Dysostoses / Q000150:complications*; D006801:Humans; D007680:Kidney Neoplasms / Q000188:drug therapy / Q000209:etiology*; D008297:Male; D009154:Mutation; D012008:Recurrence; D009396:Wilms Tumor / Q000188:drug therapy / Q000209:etiology*
chemical_list: C476724:BMPER protein, human; D002352:Carrier Proteins