Living with DICER1-related tumor predisposition
An inherited condition that raises the chance of certain cancerous and noncancerous tumors, though most people never develop tumors.
Understanding DICER1-related tumor predisposition
Tumors are most common in the lungs, kidneys, ovaries, and thyroid. They can be cancerous or noncancerous. Family members can have different types. The risk is only moderately higher than in the general population, and most people with the gene change never develop tumors. The most common tumor is pleuropulmonary blastoma, which occurs in infants and young children.
Signs & symptoms
GARD doesn't list a symptom list. Its summary describes tumors that can occur:
- Pleuropulmonary blastoma (lung tumor in young children)
- Kidney tumors
- Ovarian tumors
- Thyroid tumors
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include cancer specialists, genetic specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in DICER1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Cancer specialists (oncologists); Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the DICER1 gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: dicer1 syndrome; dicer1-related pleuropulmonary blastoma cancer predisposition syndrome; pleuro-pulmonary blastoma familial tumor susceptibility syndrome; pleuro-pulmonary blastoma familial tumour susceptibility syndrome; pleuropulmonary blastoma familial tumor and dysplasia syndrome; pleuropulmonary blastoma familial tumor susceptibility syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with DICER1-related tumor predisposition.
Explore research for DICER1-related tumor predisposition
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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