Medical Oncologist
CION Cancer Clinics
A DICER1 positive result: the next steps, in order | CION Cancer Clinics
After a DICER1 positive result, you can expect a counselling appointment, first checks suited to the person's age, and testing for close relatives. Nothing needs to happen the same day. Most carriers never develop a serious tumour, and the next steps exist to find anything early. This page explains what happens, in what order, and what the result does not change. 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
- What happens after a DICER1 positive result?
- What does the result mean for each person?
- What usually happens, and in what order?
- The words you will meet, in plain language
- What a positive result changes, and what it does not
- What people think after a positive result, and what is true
- What this page cannot tell you
- Common questions after a DICER1 positive result
The short answer
What happens after a DICER1 positive result?
A positive result is followed by a counselling appointment, a set of first checks suited to the person's age, and testing for close relatives. Nothing has to happen the same day. Most people who carry DICER1 never develop a serious tumour, and the point of the next steps is to keep it that way by finding anything early.
The first few days
It is normal to feel shocked, guilty or confused. Many parents search the tumour names late at night and frighten themselves. Try to wait for the counselling appointment, where someone can explain what the result means for your family. Write down every question as it comes, and bring the list with you.
Confirm what kind of result it is
Check whether the fault was found in blood or saliva, or only in a tumour. A fault found in blood or saliva is inherited and matters for the family. A change found only in a tumour may not be. Also check whether the report calls it pathogenic, which means harmful, or uncertain. Only a harmful result starts the plan below.
A positive result is a statement about risk. It does not mean a tumour is present now.Person by person
What does the result mean for each person?
The same result means different things depending on who holds it and how old they are.
A baby or young child
This is the age when checks matter most. A chest scan and tummy ultrasound are usually arranged early, because the rare lung and kidney tumours linked to DICER1 appear in these years.
Usually starts with
- A chest scan
- A tummy ultrasound
- A full examination by a children's specialist
An older child or teenager
The lung risk has mostly passed. Thyroid ultrasound becomes part of the plan, and girls usually have pelvic ultrasound. The young person should learn which signs to report.
An adult carrier
Many adults are found only because their child was tested. Most have had no tumours. They usually need thyroid checks, and women need to know the signs of the rare ovarian tumour.
The rest of the family
Parents, brothers and sisters, and the children of any carrier can be tested for the same exact fault. Those who test negative need no DICER1 checks at all.
Family testing is often the most useful thing a positive result makes possible.Not sure whether this applies to you?
Ask an oncologistThe first months
What usually happens, and in what order?
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A genetic counselling appointment
A counsellor goes through the report, draws your family tree, and explains what the result means and what it does not. Bring the report and any past scan results.
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First checks, based on age
A doctor examines the person and arranges the first scans. For a young child this is usually chest and tummy imaging. For an adult it is usually a thyroid ultrasound.
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Testing close relatives
Both parents are usually tested, then brothers and sisters. Young children in the family are tested early, because checks in the first years help most.
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A written check-up plan
Each carrier gets a schedule of scans for their age, and a list of signs to report between scans. Ask for it in writing and keep it with the report.
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Reviews as life changes
The plan changes as a child grows, and again when a young adult plans a family. Keep in touch with the same team so nothing is missed.
On your report
The words you will meet, in plain language
- Pathogenic variant
- A spelling difference in the gene known to be harmful. This is what a positive result means.
- Likely pathogenic
- Very probably harmful. In practice it is usually managed the same way as a pathogenic result.
- Variant of uncertain significance
- A difference the laboratory cannot yet call harmful or harmless. It does not start a DICER1 check-up plan on its own.
- Germline
- Present in every cell from birth, found in blood or saliva, and able to pass to children.
- Surveillance
- Planned scans and check-ups in someone who is well, to find a growth before it causes symptoms.
- Penetrance
- How often a fault leads to a tumour across everyone who carries it. For the serious DICER1 tumours, it is low.
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Side by side
What a positive result changes, and what it does not
What changes
What stays the same
Planned scans start at set ages
Everyday life, school and sport
New signs are reported sooner
Common adult screening, such as for breast or bowel cancer
Relatives can be tested for the same fault
The chance that a carrier stays well
Family planning can be discussed
Diet and routine vaccines
Commonly believed
What people think after a positive result, and what is true
"A positive result means my child has cancer."
It means a raised chance of certain growths, most of them rare and many of them benign. Most carriers never develop a serious tumour. The checks exist to catch the few that do, early.
"We need to start every scan straight away."
The checks depend on age. A teenager does not need the chest scans a baby needs, and an adult needs fewer checks still. Your team will pick the ones that fit.
"Nothing can be done, so why know?"
Knowing makes a real difference. The lung tumour linked to DICER1 is far easier to treat when found as simple cysts, and scans find it at that stage.
"This result should stay a secret."
Privacy is your right, and you choose who to tell. Close relatives, though, may carry the same fault, and their young children may need checks. A counsellor can help you share it carefully.
Being straight with you
What this page cannot tell you
It cannot tell you your personal risk, or the exact checks you need. DICER1 is rare, the studies are small, and plans are adjusted for each person. What your specific variant means is a question for the counsellor who ordered the test.
It cannot replace a written plan
General advice cannot tell you which scan is due next or where to have it. Ask your team for a written schedule, with names of who to call. Families travelling from a district can ask which scans can be done nearer home.
Who this does not apply to
This page is for people with a harmful DICER1 result in blood or saliva. If your report shows an uncertain variant, or a change found only in a tumour, the next steps are different. Tumour testing is covered under targeted therapy.
India has no dedicated law on genetic results and insurance. Ask your counsellor about this before relatives are tested.Questions we are asked
Common questions after a DICER1 positive result
How soon should the first checks happen?
For a baby or young child, fairly soon, because the lung and kidney risks are highest in early childhood. For a teenager or adult there is less urgency, but checks should still be booked within the next few months rather than put off.
Does a DICER1 result change treatment for a tumour already found?
It can shape the wider plan. The treating team will want to add checks for other DICER1 tumours, and may choose treatments with that in mind. The tumour itself is treated according to its own type.
Which doctors will we see?
Usually a genetic counsellor, a children's or adult oncologist, and specialists for the organs being checked. That can include thyroid, eye, gynaecology and kidney doctors. One team should coordinate them, so you are not left to arrange everything alone.
Should we get insurance before telling anyone?
It is a fair question, and one to raise with your counsellor early. India has no specific law on genetic results and insurance. Answer insurer questions honestly. Hiding a known condition can lead to a claim being refused.
Can a carrier have children?
Yes. Each child has a one in two chance of inheriting the fault. Some couples choose to test the baby after birth, others ask about testing during or before pregnancy. A counsellor can explain the options before you plan a family.
What if we cannot manage all the checks?
Tell the team honestly. They can tell you which checks matter most for your child's age, help with scheduling, and point you to Aarogyasri or Ayushman Bharat where eligible. Missing checks quietly is the worst option.
Can the result ever change?
A clear harmful result rarely changes. An uncertain variant can be reclassified as evidence grows. Ask the laboratory or counsellor how you will be told if your classification is ever updated.
Where do we start at CION?
Call the CION helpline with the report to hand. Say it is a DICER1 result and give the age of the person tested. You will be booked with a genetic counsellor, and counselling in Telugu can be arranged.
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)
Medical Oncologist
Medical Oncologist
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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 — 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
Surveillance for DICER1 carriersThe full schedule of checks, by ageTesting the family for DICER1Who else should be tested, and in what orderDICER1 mutation: which cancers and what riskEach linked growth, and how likely it really isDICER1 syndrome in children: what to watch forSigns to report between scans
Talk to us
Just received a DICER1 result and not sure where to start?
Tell us who was tested and how old they are. We will help you book a genetic counsellor and plan the first checks. One helpline serves every CION centre.