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