Purpose or Case Report: Molecular biology has come to the forefront of modern oncology. Knowledge of specific genetic mutations within tumors drives prognostic information and can guide therapy. Keeping up with new terminology in oncology can be difficult for pediatric radiologists who often host oncology conferences and present regularly at grand rounds. The purpose of this educational exhibit is to describe DICER1 syndrome and discuss its implications for pediatric radiology.
Methods & Materials: Basic information regarding the molecular basis for tumor promotion is presented. The DICER1 gene and its product are described. Neoplastic associations with DICER1 are emphasized. The effects on multiple organ systems are discussed.
Results: The DICER1 gene encodes a protein that controls production of micro RNA molecules (miRNA). miRNA serves a regulatory role in gene expression by binding messenger RNA (mRNA). Messenger RNA is the intermediary between the genetic information encoded by DNA and the proteins and enzymes that eventually produce phenotypes. The DICER1 product thus serves as a policeman of sorts, and common DICER1 mutations result in a dysfunction and loss of regulation which increases the likelihood that a neoplastic process will ensue. Most individuals with a DICER1 mutation do not develop cancer, but the risk is increased. Pleuropulmonary blastoma is a primary concern in DICER1 syndrome. Cystic nephroma is also a common association. Sertoli-Leydig cell tumors and multinodular goiter are seen in patients with DICER1syndrome. Pineoblastoma and pituitary blastoma are seen with specific DICER1 abnormalities.
Conclusions: DICER1 syndrome is a cancer predisposition condition that can affect multiple organ systems. Understanding the function of this gene is essential to appreciating its associated disease processes.