What is DICER1 Syndrome?

DICER1 syndrome, also known as DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome, is a condition in which an individual is born with genetic changes that predispose him or her to develop benign and malignant tumors during childhood, through adolescence and, rarely, as an adult.

In childhood, these most often include:

  • Pleuropulmonary blastoma
  • Ovarian sex cord stromal tumors
  • Cystic nephroma
  • Genitourinary rhabdomyosarcomas
  • Increased risk for familial nodular goiter
  • Pineoblastomas
  • Pituitary blastomas
  • Cilliary body medulloepitheliomas
  • Renal sarcomas

What are the causes?

The genetic changes are found in the DICER1 gene, a tumor suppressor gene. When working normally, both copies of this gene in an individual help suppress the development of cancer. However, individuals with DICER1 syndrome are born with one working copy and one non working copy.

This genetic change is passed down from either parent 80% of the time. However, 20 percent of the time this genetic change occurs on its own in an oocyte or sperm cell prior to fertilization.

How is DICER1 syndrome diagnosed?

DICER1 syndrome can only be diagnosed after undergoing genetic testing. This process is facilitated by a genetic counselor who will discuss family history, complete a risk assessment and provide a discussion about the benefits of testing, as well as the options for doing so.

Treatment and monitoring

Not all individuals with a diagnosis of DICER1 syndrome will develop tumors or cancer. Surveillance strategies are important in that if cancer does develop, it can be caught and treated as early as possible.