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Selected Works of David J Chalmers, MD
Article
A Cystic Renal Mass in the Setting of a Pneumothorax: More Than Meets the Eye?
Urology
  • Daniel S Han, Department of Pediatric Urology, Children's Hospital Colorado, Aurora, CO. Electronic address: daniel.han@childrenscolorado.org.
  • David J Chalmers, Maine Medical Center Urology, Maine Medical Center, Portland, ME.
  • Brian Greffe, Center for Cancer and Blood Disorders, Children's Hospital Colorado, Aurora, CO.
  • Timothy Garrington, Center for Cancer and Blood Disorders, Children's Hospital Colorado, Aurora, CO.
  • David Partrick, Department of Pediatric Surgery, Children's Hospital Colorado, Aurora, CO.
  • Mark Lovell, Department of Pathology, Children's Hospital Colorado, Aurora, CO.
  • Kami Wolfe Schneider, Center for Cancer and Blood Disorders, Children's Hospital Colorado, Aurora, CO.
  • Nicholas G Cost, Department of Pediatric Urology, Children's Hospital Colorado, Aurora, CO.
Link
Document Type
Article
Publication Date
8-1-2021
MeSH Headings
Child, Preschool; DEAD-box RNA Helicases (genetics); Genetic Predisposition to Disease (genetics); Germ-Line Mutation; Humans; Kidney Diseases, Cystic (diagnostic imaging, surgery); Kidney Neoplasms (diagnostic imaging, genetics, surgery); Lung Neoplasms (diagnostic imaging, genetics, surgery); Male; Pneumothorax (complications); Pulmonary Blastoma (diagnostic imaging, genetics, surgery); Ribonuclease III (genetics); Syndrome; Tomography, X-Ray Computed
Abstract

DICER1 syndrome is a rare hereditary cancer predisposition syndrome that has relevance to pediatric urology providers due to its association with many various pediatric genitourinary malignancies. We describe the case of a pediatric patient who was eventually diagnosed with a pathogenic DICER1 germline variant after undergoing resection of a cystic nephroma and pleuropulmonary blastoma.

Citation Information
Han DS, Chalmers DJ, Greffe B, et al. A Cystic Renal Mass in the Setting of a Pneumothorax: More Than Meets the Eye?. Urology. 2021;154:275-277. doi:10.1016/j.urology.2021.01.049