DICER1 syndrome is a genetic disorder associated with an increased risk for developing tumors in the lungs, kidneys, ovaries, thyroid, and several other locations in the body. These growths may be non-cancerous (benign) or cancerous (malignant).

Individuals with DICER1 syndrome are at increased risk for developing:

  • Multinodular goiter and less commonly differentiated thyroid cancer. Multinodular goiter is a non-cancerous thyroid condition characterized by multiple nodules in the thyroid gland.
  • Pleuropulmonary blastoma, a cystic lung tumor that may transform into an invasive tumor that may spread to other parts of the body if not treated. Pleuropulmonary blastoma is often diagnosed at birth or within the first few months of life and rarely developed after 7 years old.
  • Cystic nephroma and less commonly Wilms' tumor.
  • Ovarian tumors, most commonly Sertoli-Leydig cell tumor.
  • Embryonal rhabdomyosarcoma of the uterine cervix.

Less commonly, children with DICER1 syndrome may also develop:

  • Certain types of brain tumors, including pineoblastoma and pituitary blastoma.
  • Nasal chondromesenchymal hamartoma (nose tumor).
  • Ciliary body medulloepithelioma (eye tumor).