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Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0b013e3182465b58
Clinical and Laboratory Observations

Development of Anaplastic Wilms Tumor and Subsequent Relapse in a Child With Diaphanospondylodysostosis

Tasian, Sarah K. MD*; Kim, Grace E. MD; Miniati, Douglas N. MD; DuBois, Steven G. MD*

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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).

© 2012 Lippincott Williams & Wilkins, Inc.

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