DICER1 Syndrome is a rare disorder that makes a person more likely to develop certain types of cancer, both benign (non-cancerous) and malignant (cancerous). Children with this syndrome can develop one or more cancers in these areas of the body:
- Lungs
- Ovaries
- Thyroid gland
- Kidneys
- Brain (pineal and pituitary glands)
- Other
In babies and young children with DICER1 syndrome, the most common type of cancer appears in the lung and is known as pleuropulmonary blastoma (PPB).
DICER1 Syndrome is caused by changes in a gene known as DICER1. Genes carry information that tells our body’s cells how to work. In ways that are not well understood, DICER1 helps prevent cancer.
Most cells of the body carry two working copies of the DICER1 gene. One is inherited from each parent. Cells from people with DICER1 Syndrome carry one working DICER1 gene copy and one copy that is changed. This change causes the gene to not work right and is called a variant.
A doctor may suspect this diagnosis after looking at a person’s medical or family history. In most cases, a doctor or genetic counselor will ask questions about the person’s health and the health of other family members. Read more about genetic counseling and genetic testing.
Diagnosing this syndrome is usually done by sequencing the DICER1 gene to find variants (changes in the gene).
Children and young people with DICER1 Syndrome have an increased risk of developing:
- PPB, a rare type of lung cancer usually occurring before 6 years of age
- Ovarian sex-cord stromal cancer, such as Sertoli-Leydig cell tumor
- A rare and non-cancerous kidney tumor known as cystic nephroma
- An enlarged thyroid gland that contains growths known as nodules
- A type of eye tumor known as ciliary body medulloepithelioma
- A type of muscle cancer known as rhabdomyosarcoma (specifically, botryoid-type embryonal)
- A type of nose tumor known as nasal chondromesenchymal hamartoma
- Types of brain tumors known as pineoblastoma and pituitary blastoma
The exact risks for developing these cancers are not known at this time. Other cancer types have also been linked to this syndrome.
Cancer screening involves tests to check for cancer before symptoms occur. The goal is to find cancer at the earliest and most treatable stage. Guidelines for cancer screening are available online. Recommended screenings may change over time as doctors learn more about this syndrom so these screening tests should be discussed with a health care provider who knows this syndrome well.
Other ideas to reduce the risk of cancer include:
- Eat a healthful diet with lots of fruits and vegetables
- Get regular exercise
- Avoid smoking or using tobacco products
- Avoid secondhand smoke
- Avoid excess sun exposure and always wear sunscreen, hat, and protective clothing when out in the sun
- Get medical attention for unusual or ongoing symptoms
Because of the other medical issues related to this syndrome, the following specialists may need to assess the a child with DICER1 Syndrome:
- Ophthalmology
Resources about DICER1 Syndrome and related cancer:
- Genetics Home Reference (https://ghr.nlm.nih.gov/condition/dicer1-syndrome)
- International Pleuropulmonary Blastoma Registry (https://www.ppbregistry.org/)
- Ovarian and Testicular Stromal Tumor Registry (https://www.otstregistry.org/)
Other resources:
- Making Sense of Your Genes: A Guide to Genetic Counseling (ncbi.nlm.nih.gov/books/NBK115508/)
Adapted from educational materials developed by the St. Jude Children’s Research Hospital Cancer Predisposition Program