A Cystic Renal Mass in the Setting of a Pneumothorax: More Than Meets the Eye?

Document Type

Article

Publication Date

8-1-2021

Journal Title

Urology

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.

First Page

275

Last Page

277

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