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DICER1 mutation: which tumours, at what age, and how likely | CION Cancer Clinics
A DICER1 fault raises the chance of a small group of rare tumours, most of them in young children, teenagers and young adults. The best known are a lung tumour of early childhood, thyroid lumps, and rare kidney and ovarian growths. Most carriers never develop a serious tumour. This page sets out each linked tumour, the age at which it tends to appear, and why knowing the pattern helps. At CION Cancer Clinics, our oncologists explain what a gene result means for you and your family, and plan the checks that follow.
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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
- Which cancers does a DICER1 fault raise the risk of?
- Which tumours appear at which age?
- Why does a DICER1 fault cause tumours in some carriers and not others?
- The tumour names you may meet, in plain language
- Which findings are common, and which are rare?
- What families fear about DICER1, and what is true
- What this page cannot tell you
- Common questions about DICER1 and cancer risk
The short answer
Which cancers does a DICER1 fault raise the risk of?
A DICER1 fault raises the risk of a group of rare tumours, most of them in childhood and early adult life. The best known are a lung tumour of young children, thyroid nodules, and some rare ovarian and kidney tumours. Most people who carry a DICER1 fault never develop a serious tumour.
A long list, but mostly rare and mostly treatable
The list of DICER1-linked tumours looks frightening when you first see it. It helps to know that many of them are benign, meaning they do not spread, and that the cancers on the list are uncommon even in carriers. The value of knowing is that the few serious tumours can be looked for early, when treatment is simpler.
Why age matters more than with most genes
With genes like BRCA, the risk is highest in middle age. With DICER1, each tumour tends to appear in its own window of life. Lung tumours come in infancy and early childhood. Ovarian tumours tend to appear in teenage girls and young women. Thyroid nodules are common from adolescence on. Knowing the windows is how screening is planned.
A DICER1 fault raises risk. It is not a diagnosis of any tumour.By stage of life
Which tumours appear at which age?
These are the main DICER1-linked tumours, grouped by when they usually appear. None of them is certain for any one carrier.
Babies and young children
Pleuropulmonary blastoma is the most serious tumour linked to DICER1. It begins as air-filled cysts in the lung and can turn into a cancer if not found early. Benign kidney cysts called cystic nephroma also appear at this age.
Rarer at this age
- An eye tumour of the ciliary body
- Tumours of the pituitary or pineal gland
- Kidney tumours such as Wilms tumour
Older children and teenagers
Thyroid nodules become common and are usually benign. A rare muscle tumour of the cervix, called embryonal rhabdomyosarcoma, can appear in girls. A benign growth in the nose is also linked.
Teenage girls and young women
Sertoli-Leydig cell tumour of the ovary is the main risk here. It can make hormones that cause deepening of the voice, extra facial hair or missed periods.
Adults
Multinodular goitre, a thyroid with several lumps, is the most common finding. Thyroid cancer risk is raised but most thyroid cancers in carriers are slow-growing and treatable.
Adult carriers found through a child's diagnosis often have had no tumours at all.Not sure whether this applies to you?
Ask an oncologistInside the cell
Why does a DICER1 fault cause tumours in some carriers and not others?
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DICER1 helps cells control their own genes
DICER1 makes small pieces of genetic material that switch other genes down. This fine control is especially important while organs like the lungs, kidneys and thyroid are forming.
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An inherited fault knocks out one copy
A carrier is born with one working copy of DICER1 in every cell. Nothing is wrong yet, and most organs develop normally.
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A second change happens in one tissue
In a DICER1 tumour, a second change almost always appears in the other copy, in that one tissue only. This change is of a particular kind that alters how the gene works rather than simply switching it off.
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That tissue can start to grow abnormally
Because the second change tends to happen while organs are still growing, DICER1 tumours cluster in childhood and early adult life.
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Most carriers never reach that point
The second change is a matter of chance. This is why many carriers stay well all their lives, and why screening is aimed at the few years when each tumour is most likely.
On the report
The tumour names you may meet, in plain language
- Pleuropulmonary blastoma
- A rare lung tumour of young children. It starts as cysts and is most treatable when found at that early stage.
- Cystic nephroma
- A benign cluster of cysts in the kidney, usually found in young children.
- Multinodular goitre
- A thyroid gland with several lumps. Common in carriers and usually benign.
- Sertoli-Leydig cell tumour
- A rare ovarian tumour that can make male-type hormones. Usually found in teenage girls or young women.
- Embryonal rhabdomyosarcoma
- A rare cancer of muscle-type cells. With DICER1 it is usually found in the cervix of girls.
- Penetrance
- How often a fault leads to a tumour across everyone who carries it. With DICER1 it is low for the serious tumours.
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Side by side
Which findings are common, and which are rare?
More common in carriers
Rare, even in carriers
Thyroid nodules and multinodular goitre
Pituitary and pineal gland tumours
Lung cysts in early childhood
Eye tumours of the ciliary body
Benign kidney cysts in young children
Sarcomas of the kidney or brain
Ovarian tumours in young women
Tumours in older adults
Commonly believed
What families fear about DICER1, and what is true
"My child will get every tumour on the list."
No carrier gets them all. Most carriers never develop a serious tumour. The list describes what to watch for, not what will happen.
"A thyroid lump means cancer."
Most thyroid lumps in carriers are benign. They are watched with ultrasound, and a biopsy is done only if a lump looks unusual.
"If I am a carrier and well, the gene is not doing anything."
You can still pass it on. Each child has a one in two chance of inheriting it, and a child's risks are highest in the early years.
"No one else in our family had these tumours, so it cannot be DICER1."
Because most carriers stay well, a family can carry DICER1 for generations without anyone knowing. Sometimes the fault is also new in the child.
Being straight with you
What this page cannot tell you
It cannot put a number on your child's risk or your own. DICER1 is rare, the studies are small, and risk figures quoted online vary widely. What your specific variant means is a question for the counsellor who ordered the test.
It cannot tell you about a tumour-only result
A DICER1 change found only in a tumour may not be inherited. A blood or saliva test answers that. Tumour testing belongs with targeted therapy, not here.
Who this does not apply to
Most people with a thyroid nodule, a kidney cyst or an ovarian cyst do not have DICER1 and do not need this test. It is considered when a typical tumour appears in a child, or when several linked findings appear in one family.
Care for DICER1 families usually involves a paediatric oncologist, a genetic counsellor and specialists for each organ.Questions we are asked
Common questions about DICER1 and cancer risk
What is the most serious risk with DICER1?
Pleuropulmonary blastoma, a lung tumour of young children. It usually begins as air-filled cysts and is most treatable at that stage. This is why chest imaging in early childhood is often the first part of a screening plan.
Does DICER1 raise the risk of breast or bowel cancer?
No. DICER1 is not linked to the common adult cancers such as breast, bowel or prostate cancer. The usual screening for those cancers applies to carriers exactly as it does to everyone else.
Are adults at risk, or only children?
Most of the serious risk falls in childhood and early adult life. Adults mainly need thyroid checks, and women need to be aware of ovarian symptoms. Many adult carriers are found only after a child's diagnosis.
How likely is a carrier to develop a tumour?
For the serious tumours, the chance is low. Thyroid nodules are much more common. Figures vary between studies because DICER1 is rare. Your counsellor can explain what the evidence suggests for your family.
Can DICER1 tumours be treated?
Yes, and many are removed completely with surgery, especially when found early. Some need chemotherapy as well. The earlier a tumour is found, the simpler treatment tends to be, which is the reason for screening.
What symptoms should prompt a visit to the doctor?
In a child, sudden breathlessness, chest pain or a persistent cough. In anyone, a lump in the neck or belly. In girls and young women, a deepening voice, extra facial hair or missed periods. Mention DICER1 to the doctor.
Should brothers and sisters of an affected child be tested?
Usually yes, because DICER1 screening starts in early childhood and genuinely helps. Parents are usually tested first to see whether the fault was inherited or new in the child.
Who looks after DICER1 families at CION?
A genetic counsellor explains the result and plans testing. Oncologists and organ specialists plan screening and any treatment. Call the CION helpline and describe the result to be booked with the right team.
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
- National Cancer Institute — Pleuropulmonary Blastoma Treatment (PDQ) - Patient Version
- National Cancer Institute — Childhood Thyroid Cancer Treatment (PDQ) - Patient Version
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
Surveillance for DICER1 carriersWhich checks are done, and at what ageDICER1 syndrome in children: what to watch forThe signs parents should report between scansDICER1 and thyroid nodules in young peopleThe most common finding, explained in detailThe DICER1 gene: what it doesThe gene behind the risk, in plain language
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Tell us who was tested and what the report says. We will help you reach a genetics team and the right specialists to explain what it means for each person. One helpline serves every CION centre.