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DICER1 syndrome: what it is and what it means for a family | CION Cancer Clinics
DICER1 syndrome is a rare inherited condition that raises the chance of unusual growths in the lungs, thyroid, ovaries and kidneys, mostly in childhood. Most people who carry the fault never develop a serious tumour. This page explains what the gene does, which growths are linked to it, how families usually find out, and when testing a child or parent is worth discussing. At CION Cancer Clinics, our oncologists plan screening and care for families with an inherited cancer syndrome, explained in plain words.
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Medically reviewed by Dr. Naresh GunduConsultant Medical Oncologist · MBBS, DNB (Internal Medicine), DM (Medical Oncology, AIIMS) · last reviewed September 2026, next review due September 2027
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On this page
- What is DICER1 syndrome?
- Which growths are linked to DICER1?
- How is DICER1 syndrome usually diagnosed?
- The words you will meet, in plain language
- What tends to happen in childhood, and what later?
- What this page cannot tell you
- Four things families tell us, and what is actually true
- Common questions about DICER1 syndrome
The short answer
What is DICER1 syndrome?
DICER1 syndrome is an inherited condition caused by a fault in the DICER1 gene. It raises the chance of several rare growths, mostly in childhood, in the lungs, thyroid, ovaries, kidneys and a few other places. Most people who carry the fault never develop a serious tumour, and many never know they carry it.
What the gene normally does
DICER1 helps make microRNAs, tiny molecules that act like volume controls for hundreds of other genes. They help cells decide when to grow and when to stop. When one copy of DICER1 is faulty from birth, that control is weaker in every cell, though it usually still works well enough.
Why tumours are still uncommon
A tumour usually forms only when a second, separate change happens inside one cell during life. That second change is a matter of chance. It explains why a parent can carry the fault quietly while a child develops a lung tumour, and why brothers and sisters with the same fault can have very different stories. The first sign in a family is often a rare tumour in a young child, which is what leads to testing.
DICER1 syndrome is rare, and most growths linked to it are not cancer. Many of those that are can be treated well when found early.Where it shows up
Which growths are linked to DICER1?
The list looks long and frightening. Each item on it is rare, and most carriers develop none of them.
Lungs
Pleuropulmonary blastoma is a rare lung tumour of early childhood. It often begins as an air-filled cyst that can later become solid. It is the tumour most closely tied to DICER1.
Thyroid
Thyroid lumps and goitre are the most common finding in carriers, often appearing in the teenage years or early adulthood. Thyroid cancer is also more common than usual, though it is still uncommon.
Ovaries
Girls and young women can develop a rare ovarian tumour called a Sertoli-Leydig cell tumour. It can make male-type hormones.
Signs to report
- A deepening voice or new facial hair
- Periods that stop or never start
- Swelling or pain in the lower tummy
Kidneys and rarer sites
Cystic nephroma, a fluid-filled kidney growth in young children, is linked to DICER1. Rarer tumours can arise in the eye, the nose, the cervix, the pituitary gland and the brain.
Not sure whether this applies to you?
Ask an oncologistHow families find out
How is DICER1 syndrome usually diagnosed?
A telltale growth appears
A child is found to have a lung cyst, a pleuropulmonary blastoma, a cystic nephroma or an ovarian tumour of the linked type. The treating team knows these can point to DICER1.
A blood test for the child
The DICER1 gene is read from a blood sample. Sometimes the tumour tissue is tested too, which helps show whether the fault was present from birth or only in the tumour.
The parents are tested
Once the child's exact fault is known, each parent is tested for it. This tells the family which side it came from, or whether it began in the child.
Brothers, sisters and other relatives
Relatives on the carrying side can then be tested for that one fault. Those who carry it are offered a check plan. Those who do not can stop worrying.
On your report
The words you will meet, in plain language
- DICER1
- The gene involved. Its name comes from its job of dicing longer molecules into short working pieces.
- MicroRNA
- A tiny molecule that turns other genes up or down. DICER1 is needed to make most of them.
- Pleuropulmonary blastoma
- A rare lung tumour of early childhood. It is often shortened to PPB on reports.
- Multinodular goitre
- A thyroid gland with several lumps. In DICER1 carriers it often appears in the teenage years.
- Germline
- Present in every cell from birth, and so able to pass to children. The opposite, somatic, means a change found only in the tumour.
- Penetrance
- How often a gene fault actually leads to illness. For DICER1 it is low, which is why most carriers stay well.
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What tends to happen in childhood, and what later?
Early childhood
Teenage and adult years
Lung cysts and pleuropulmonary blastoma
Thyroid lumps and goitre
Cystic nephroma of the kidney
Ovarian Sertoli-Leydig cell tumours in girls and young women
Rare eye, nose and pituitary tumours
Thyroid cancer, usually found early and treatable
Checks are frequent and led by a paediatric team
Checks become fewer and focus on thyroid and ovaries
Being straight with you
What this page cannot tell you
It cannot tell you whether your child will develop a tumour. Nobody can predict that for one person. It also cannot say whether the fault in your family is harmful, because DICER1 reports vary a great deal.
It cannot read your report
What your specific variant means is a question for the counsellor who ordered the test. Some DICER1 changes are clearly harmful, many are harmless, and some are uncertain. An uncertain result should not start a programme of scans on its own.
Who this does not apply to
Most children with a thyroid lump, a single lung cyst seen after an infection, or an ovarian cyst do not have DICER1 syndrome. Most people do not need this test. It is considered when a child has one of the linked tumours, or when a relative already has a confirmed fault.
The evidence is still growing
DICER1 syndrome was only recognised in the last couple of decades, and most of what is known comes from an international registry of fairly few families. Indian data are scarce. Marriage within the family does not cause this condition, because one faulty copy from one parent is enough. Your counsellor can talk it through in Telugu.
Commonly believed
Four things families tell us, and what is actually true
"A DICER1 fault means my child will get cancer."
Most carriers never develop a serious tumour. The fault raises the chance, and the check plan exists so that anything that does appear is found early.
"I am healthy, so my child's fault cannot have come from me."
Many parents who carry DICER1 have had nothing more than a thyroid lump, or nothing at all. Testing the parents is the only way to know where the fault came from.
"Our first child had a lung tumour, so the others will too."
Each child of a carrier has a one in two chance of inheriting the fault. Even those who inherit it will most likely stay well. Testing tells you which children need checks.
"This is the same as the tumour test the oncologist ordered."
Tumour testing looks at changes inside the cancer. Inherited DICER1 testing uses blood to look for a fault present from birth. The two answer different questions.
Questions we are asked
Common questions about DICER1 syndrome
How rare is DICER1 syndrome?
It is rare, and probably under-recognised, because many carriers stay well and are never tested. Most doctors will see only a handful of families in a career. That is why care is best planned with a team that has experience of it.
Is DICER1 syndrome inherited?
Usually yes. A parent with the fault has a one in two chance of passing it to each child, whether the parent is a mother or a father. Sometimes the fault is new in the child and neither parent carries it.
Can adults be affected?
Yes. Adults with the fault most often have thyroid lumps, and some women develop the linked ovarian tumour. Many adults learn they carry DICER1 only after their child is diagnosed and they are tested as parents.
Can DICER1 syndrome be treated?
The gene fault itself cannot be corrected. Each growth is treated on its own terms, often by surgery, and many are dealt with successfully when found early. The check plan is designed to make early finding more likely.
Does my child need regular scans?
Children who carry the fault are usually offered chest imaging in early childhood, plus kidney, thyroid and, for girls, pelvic checks as they grow. The exact schedule is set by your specialist and explained on our surveillance page.
Should brothers and sisters be tested?
Usually yes, once the family's fault is known, because the checks for young children begin early. A counsellor will talk you through the timing, what a positive or negative result means, and how to explain it to the children.
Will this affect marriage or insurance?
These are fair worries in India. The country has no specific law against genetic discrimination, so it is worth discussing who needs to know with your counsellor before testing rather than after.
Where should we start?
If your child has been diagnosed with a linked tumour, ask the treating team about DICER1 testing. If a relative has a confirmed fault, bring their report to a genetic counsellor. Call the CION helpline if you are unsure who to approach.
Your Specialists
Meet CION's oncologists. Bring your family history or genetic report to them.
Our medical oncologists see people with a strong family history of cancer, arrange genetic counselling and testing where it fits, and plan the checks that follow.
Medical Oncologist
Dr. C. Raghavendra Reddy
MBBS(Gold Medal), DNB(General Medicine), DM(Medical Oncology)(Gold Medal)
Medical Oncologist
Dr. Bharati Devi Gorantla
MBBS, MD(General Medicine), DM(Medical Oncology)(Adyar,Chennai), ECMO, MRCP SCE(UK)
Medical Oncologist
Dr. Owais Mohammed
MBBS, MD (General Medicine), DrNB (Medical Oncology), ECMO, MRCP SCE (Medical Oncology) (UK)
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Sources
- GeneReviews (NCBI) — DICER1-Related Tumor Predisposition
- MedlinePlus Genetics — DICER1 syndrome
- MedlinePlus Genetics — DICER1 gene
- National Cancer Institute — Genetic Testing for Inherited Cancer Susceptibility Syndromes
This page is general information, not a prescription. Do not change or stop any treatment based on what you read here. If anything is worrying you, contact your own treating team — or call our helpline and we will help you reach the right specialist.
Keep reading
Related pages
Pleuropulmonary blastoma and lung cysts in infancyThe lung tumour most closely tied to DICER1DICER1 surveillance in children and adultsWhich checks carriers are offered, and whenTesting the family for DICER1Who to test after the first diagnosisDICER1 and thyroid nodules in young peopleThe most common finding in carriers
Talk to us
Has DICER1 come up in your family?
A genetic counsellor can explain what a DICER1 result means for your child and who else in the family should be tested. We can arrange that conversation in Telugu or English. One helpline serves every CION centre.