Overview
DICER1 tumor-predisposition syndrome (also called DICER1 syndrome) is a rare inherited condition that increases a person's risk of developing certain types of tumors, both cancerous and non-cancerous, throughout their lifetime. The condition is caused by changes (mutations) in the DICER1 gene, which normally helps control cell growth. When this gene does not work properly, cells can grow in an uncontrolled way, leading to tumors in various parts of the body. The most well-known tumor linked to this syndrome is pleuropulmonary blastoma (PPB), a rare lung tumor that typically appears in young children. Other associated tumors include cystic nephroma (a kidney tumor), ovarian Sertoli-Leydig cell tumors, multinodular goiter and thyroid cancer, nasal tumors (nasal chondromesenchymal hamartoma), pineoblastoma (a brain tumor), and other rare growths. Not everyone with a DICER1 mutation will develop tumors, and the types and timing of tumors can vary widely even within the same family. Treatment depends on which tumors develop and may include surgery, chemotherapy, or other cancer-directed therapies. Regular surveillance through imaging and physical exams is a key part of managing this condition, as early detection of tumors greatly improves outcomes. Genetic counseling is strongly recommended for affected families to understand risks and plan appropriate screening.
Also known as:
Key symptoms:
Lung cysts or lung tumors in young children (pleuropulmonary blastoma)Kidney cysts or kidney tumors (cystic nephroma)Ovarian tumors, especially in teenage girls or young womenEnlarged thyroid or thyroid nodules (multinodular goiter)Thyroid cancerNasal or sinus tumors causing breathing difficultyBrain tumor (pineoblastoma) causing headaches or vision changesEye tumor (ciliary body medulloepithelioma)Uterine tumors (embryonal rhabdomyosarcoma of the cervix)Unexplained cough or breathing problems in a young childAbdominal swelling or pain from kidney or ovarian tumorsEarly puberty signs from hormone-producing ovarian tumorsRecurrent or unusual tumors at a young age
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
3 eventsChildren's Oncology Group — PHASE3
National Cancer Institute (NCI)
Children's Hospitals and Clinics of Minnesota — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for DICER1 tumor-predisposition syndrome.
3 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to DICER1 tumor-predisposition syndrome.
Community
No community posts yet. Be the first to share your experience with DICER1 tumor-predisposition syndrome.
Start the conversation →Latest news about DICER1 tumor-predisposition syndrome
Disease timeline:
New recruiting trial: Testing a Standardized Approach to Surgery and Chemotherapy for Type I Pleuropulmonary Blastoma or the Addition of an Anti-cancer Drug, Topotecan, to the Usual Treatment for Types II and III Pleuropulmonary Blastoma
A new clinical trial is recruiting patients for DICER1 tumor-predisposition syndrome
New recruiting trial: DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study
A new clinical trial is recruiting patients for DICER1 tumor-predisposition syndrome
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific surveillance schedule do you recommend for my child or me based on age and tumor risk?,Which family members should be tested for the DICER1 mutation?,What symptoms should I watch for between screening appointments?,Are there any clinical trials or research studies we should consider?,How will this diagnosis affect future family planning, and is prenatal testing available?,What mental health or support resources are available for our family?,At what age can surveillance be reduced or stopped?
Common questions about DICER1 tumor-predisposition syndrome
What is DICER1 tumor-predisposition syndrome?
DICER1 tumor-predisposition syndrome (also called DICER1 syndrome) is a rare inherited condition that increases a person's risk of developing certain types of tumors, both cancerous and non-cancerous, throughout their lifetime. The condition is caused by changes (mutations) in the DICER1 gene, which normally helps control cell growth. When this gene does not work properly, cells can grow in an uncontrolled way, leading to tumors in various parts of the body. The most well-known tumor linked to this syndrome is pleuropulmonary blastoma (PPB), a rare lung tumor that typically appears in young c
How is DICER1 tumor-predisposition syndrome inherited?
DICER1 tumor-predisposition syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for DICER1 tumor-predisposition syndrome?
Yes — 3 recruiting clinical trials are currently listed for DICER1 tumor-predisposition syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat DICER1 tumor-predisposition syndrome?
2 specialists and care centers treating DICER1 tumor-predisposition syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.