Evolution of Renal Cysts to Anaplastic Sarcoma of Kidney in a Child With DICER1 Syndrome

Pediatr Blood Cancer. 2016 Jul;63(7):1272-5. doi: 10.1002/pbc.25959. Epub 2016 Feb 29.


Anaplastic sarcoma of kidney (ASK) is a rare neoplasm recently associated with DICER1 mutations. We report a child with germline DICER1 mutation who developed ASK in preexisting septated renal cysts, which were likely cystic nephroma. From age 2.5 to 6 years, sonographic imaging illustrated changes in the size and number of renal cysts, followed at age 8.8 years by a mass, pathologically an ASK. Lung cysts resected in infancy were diagnosed retrospectively as pleuropulmonary blastoma. Both tumors had acquired somatic DICER1 mutations. Ultrasonographic evolution of renal cysts to ASK has not previously been documented. Children with both pulmonary and renal cysts are candidates for DICER1 mutation testing.

Keywords: ASK; DICER1; PPB; cystic nephroma; miRNA; ultrasound.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Cysts* / genetics
  • Cysts* / pathology
  • Cysts* / surgery
  • DEAD-box RNA Helicases / genetics*
  • Female
  • Genetic Diseases, Inborn* / genetics
  • Genetic Diseases, Inborn* / pathology
  • Genetic Diseases, Inborn* / surgery
  • Humans
  • Infant
  • Kidney Neoplasms* / genetics
  • Kidney Neoplasms* / pathology
  • Kidney Neoplasms* / surgery
  • Pulmonary Blastoma* / genetics
  • Pulmonary Blastoma* / pathology
  • Pulmonary Blastoma* / surgery
  • Ribonuclease III / genetics*
  • Sarcoma* / genetics
  • Sarcoma* / pathology
  • Sarcoma* / surgery
  • Syndrome


  • DICER1 protein, human
  • Ribonuclease III
  • DEAD-box RNA Helicases