Juvenile Myelomonocytic Leukaemia Treatment in Delhi

A diagnosis of Juvenile Myelomonocytic Leukaemia in your child can feel frightening, especially because it’s so rare that most parents have never heard of it. But there is real hope. With expert care, prompt bone marrow transplant, and comprehensive treatment, many children achieve a cure and return to healthy, normal lives. Under the expert guidance of Dr Satyendra Katewa, a leading JMML specialist in Delhi, families receive the specialised care this rare condition demands.

Modern JMML treatment in India has improved significantly, with bone marrow transplant offering cure rates exceeding 50-60% when performed at the right time by experienced teams.

What Is Juvenile Myelomonocytic Leukaemia?

Juvenile myelomonocytic leukaemia (JMML) is a very rare type of blood cancer affecting young children, typically under age 4. It’s classified as a myeloproliferative disorder, meaning the bone marrow produces too many abnormal cells, particularly monocytes (a type of white blood cell).

Unlike acute leukaemias, which develop rapidly, JMML progresses more slowly, somewhere between acute and chronic leukaemias in behaviour. However, without treatment, JMML inevitably worsens and becomes life-threatening.

How Rare Is JMML?

JMML is extremely rare, accounting for:

• Only 1-2% of all childhood leukaemias
• Approximately 1.2 cases per million children per year
• About 25-50 new cases in India annually

Because rare childhood leukaemia JMML is so uncommon, diagnosis and treatment require specialists experienced with this specific disease. Most general paediatricians may never see a case in their entire career.

What Makes JMML Different?

JMML differs from other childhood leukaemias in essential ways:

Age: Affects very young children; the median age at diagnosis is 2 years. Over 75% of cases occur before age 4.

Behaviour: Not as aggressive as acute leukaemia but more serious than chronic leukaemia. Without treatment, survival is measured in months rather than years.

Treatment: Doesn’t respond well to standard chemotherapy. Bone marrow transplant is the only proven cure.

Genetic basis: Over 90% of children with JMML have identifiable genetic mutations in the RAS signalling pathway, a discovery that has helped develop targeted therapies.

Understanding the Genetics

Genetic mutations in JMML occur in genes that control cell growth and division, particularly in the RAS signalling pathway. These aren’t inherited from parents; they develop by chance, either before birth or in early infancy.

Common JMML Mutations

PTPN11 mutations (35-40% of cases): Most common genetic change in JMML. Some children with PTPN11 mutations have Noonan syndrome features.

KRAS or NRAS mutations (20-25%): Directly activate RAS signalling, causing uncontrolled cell growth.

NF1 mutations (10-15%): Children with neurofibromatosis type 1 have increased JMML risk. About 14% of children with both NF1 and JMML have inherited NF1, whilst others have sporadic NF1 mutations.

CBL mutations (10-15%): Some resolve spontaneously without treatment, though this is unpredictable.

No mutation identified (10-15%): A small percentage have JMML without identifiable mutations in common genes.

Important for families: Understanding your child’s specific mutation helps predict behaviour, guides treatment decisions, and identifies which children might benefit from emerging targeted therapies.

Recognising JMML Symptoms in Children

Early symptoms of JMML in infants and toddlers are often vague, easily mistaken for common childhood illnesses or developmental variations. This causes diagnosis delays—the average time from first symptoms to diagnosis is 2-3 months.

What Parents Notice First

Persistent infections: Your baby seems to have one cold after another, as well as ear, chest, and skin infections that don’t clear quickly. This isn’t the occasional illness all children get; it’s nearly constant.

Different kind of tiredness: A previously active kid stops wanting to play, seems exhausted, and needs frequent naps. They don’t bounce back after rest like they used to.

Skin rash: Small red or purple spots (petechiae) or bruises appearing without a clear cause. Your child bruises from minor bumps that wouldn’t have caused bruising before.

Pale appearance: Skin, lips, tongue, and palms appear noticeably pale, more than the natural fairness of a young child.

Breathing changes: Breathing faster than usual, working harder to breathe, or making noisy breathing sounds even without an obvious chest infection.

Poor feeding and growth: Babies losing interest in feeding, eating less, or failing to gain weight as expected. Kids are becoming picky eaters than they were before.

Physical Examination Findings

Parents may notice, or doctors will find:

Enlarged spleen: The most consistent finding in JMML is that over 95% of children have a significantly enlarged spleen, causing the left upper abdomen to protrude or feel full.

Enlarged liver: About 80% have liver enlargement, which can make the abdomen appear distended or swollen.

Lymph node swelling: Enlarged lymph nodes in the neck, underarms, or groin, though usually not as prominent as in other leukaemias.

Skin changes: Some children develop eczema-like rash, juvenile xanthomas (yellowish skin bumps), or café-au-lait spots (flat brown patches, particularly with NF1).

Facial features: Children with PTPN11 mutations may have subtle Noonan syndrome features, including widely spaced eyes, low-set ears, and a webbed neck, though not all do.

When to Seek Immediate Evaluation

JMML symptoms in children requiring urgent medical assessment:

• Persistent fever lasting more than a week
• Breathing difficulty or rapid breathing at rest
• Severe paleness or fatigue
• Extensive bruising or bleeding
• Notably enlarged abdomen
• Poor feeding with weight loss

Important: Because JMML is so rare, initial doctors may not consider it. If your child has persistent symptoms, especially enlarged spleen, recurrent infections, and failure to thrive, request referral to a paediatric haematologist for evaluation.

How Is JMML Diagnosed?

JMML diagnosis is challenging because no single test confirms it. Doctors use a combination of clinical features, blood tests, bone marrow examination, and genetic testing.

JMML Blood Test Findings

Complete blood count shows a characteristic pattern:

• Elevated white blood cells: Usually 25,000-100,000 (normal is 5,000-15,000 in young children)
• Increased monocytes: Absolute monocyte count over 1,000 is the hallmark of JMML
• Anaemia: Low red blood cells causing paleness and tiredness
• Variable platelet count: May be low, normal, or even elevated

Blood smear: Microscopic examination shows:

• Immature white blood cells (blasts, promyelocytes, myelocytes)
• Abnormal monocytes
• Nucleated red blood cells
• Less than 20% blasts (unlike acute leukaemia, which has over 20%)

Additional blood tests:

• Elevated fetal haemoglobin (HbF), over 10% in most JMML patients
• Elevated vitamin B12 levels
• High lysozyme levels
• Normal Philadelphia chromosome (negative BCR-ABL), distinguishing JMML from chronic myeloid leukaemia

JMML Bone Marrow Findings

Bone marrow examination shows:

• Increased cellularity (packed with cells)
• Excessive monocyte and granulocyte production
• Less than 20% blasts
• Normal or increased megakaryocytes (platelet-producing cells)

Genetic Testing: The Key to Diagnosis

Genetic testing identifying RAS pathway mutations (PTPN11, KRAS, NRAS, NF1, CBL) is now standard in JMML diagnosis. Finding these mutations:

• Confirms JMML diagnosis
• Predicts disease behaviour
• Identifies candidates for targeted therapy
• Helps with family genetic counselling

At Dr Satyendra Katewa’s centre, comprehensive JMML diagnosis follows international guidelines, ensuring accurate identification through detailed blood tests, bone marrow examination, and complete genetic profiling.

JMML Prognosis: Understanding Your Child’s Outlook

Every parent wants to know: What’s the JMML prognosis for my child?

The honest answer depends on several individual factors:

Without Treatment

Without timely and appropriate treatment, JMML can be a serious, life-threatening condition. On average, the disease may progress over 12–18 months after diagnosis. As JMML advances, children may experience:

• Increasing anaemia and low platelet counts, leading to fatigue and easy bruising
• Gradual enlargement of organs such as the spleen and liver
• Progressive strain on vital organs
• In some cases, transformation into acute leukaemia
• Higher risk of infections or bleeding

With Bone Marrow Transplant

Bone marrow transplant remains the only proven cure for JMML. JMML survival rate in children undergoing transplant:

• Overall survival: 50-60% long-term cure
• Event-free survival: 45-55% remain disease-free long-term
• Relapse rate: 30-40% experience disease recurrence after transplant

Factors Affecting Prognosis

Age at diagnosis: Children diagnosed under age 2 tend to have better outcomes than those diagnosed at older ages.

Platelet count: Children with platelet counts over 40,000 at diagnosis have a better prognosis than those with very low platelets.

Fetal haemoglobin level: Very high HbF (over 40%) may indicate more aggressive disease.

Genetic mutation type:

• CBL mutations: Best prognosis, some resolve spontaneously, others have excellent transplant outcomes
• PTPN11 and KRAS/NRAS: Intermediate prognosis
• NRAS specifically: May have slightly worse outcomes
• No identified mutation: Variable outcomes

Response to treatment: Children who respond well to treatment before transplant and maintain good disease control after the transplant generally have the most favourable outcomes and a better chance of long-term survival.

Important: These are statistics reflecting groups of children. Your child’s individual outcome depends on their specific circumstances, treatment response, and many factors that statistics cannot capture.

Treatment Options for JMML

JMML treatment in children requires a specialised, coordinated approach combining initial disease control with definitive curative therapy.

1. Chemotherapy for Disease Control

Unlike other leukaemias, JMML doesn’t respond well to standard chemotherapy. However, low-dose chemotherapy may temporarily control the disease whilst preparing for transplant.

Common approaches:

• Low-dose cytarabine: Gentle chemotherapy reducing disease burden
• 6-mercaptopurine: Oral chemotherapy helping control white blood cell counts
• All-trans retinoic acid (ATRA): In some cases, helps differentiate abnormal cells

Important: These medications control but don’t cure JMML. They’re bridge therapy, buying time, and improving your child’s condition before transplant.

Goal: Reduce organ enlargement, improve blood counts, control disease progression, whilst preparing for definitive treatment.

2. Bone Marrow Transplant: The Curative Treatment

JMML bone marrow transplant offers the only realistic chance for a cure. Because JMML doesn’t respond durably to chemotherapy, the role of bone marrow transplant in JMML is central; it’s not just an option, it’s essential.

When to transplant: As soon as possible after diagnosis, once:

• The child is medically stable
• Suitable donor is identified
• Pre-transplant workup is complete

Delays in transplant allow disease progression, potentially worsening outcomes.

Donor selection:

• Matched sibling donor: Best outcomes when available (about 25% of patients)
• Matched unrelated donor: Excellent results with high-resolution matching
• Haploidentical (half-matched) family donor: Increasingly used with good results
• Cord blood: Alternative when other donors are unavailable

The transplant process:

1. Conditioning: High-dose chemotherapy ± radiation destroying the child’s diseased bone marrow
2. Stem cell infusion: Healthy donor cells infused through IV (like a blood transfusion)
3. Engraftment: 2-4 weeks for new cells to start producing blood cells
4. Recovery: Several months of careful monitoring and supportive care

Risks: Transplant carries significant risks, including infection, graft-versus-host disease, organ complications, and treatment-related mortality (5-15%). However, without a transplant, JMML is fatal. The benefit-risk balance strongly favours transplant.

Outcomes: With modern transplant techniques and supportive care, 50-60% of children are cured, an extraordinary achievement for a disease that was uniformly fatal decades ago.

3. Targeted Therapy for JMML

Exciting developments in targeted therapy for JMML are emerging based on understanding genetic mutations in JMML (RAS pathway).

MEK inhibitors (trametinib, cobimetinib): Block overactive RAS signalling. Clinical trials show promise in controlling JMML, potentially:

• Improving disease control before transplant
• Reducing relapse risk after transplant
• Possibly offering transplant-free remission in selected cases (still investigational)

Azacitidine: A hypomethylating agent showing activity in JMML, particularly post-transplant for preventing or treating relapse.

Current status: These therapies are still largely experimental. They’re used in clinical trials or compassionate use situations but aren’t yet standard treatment. However, they represent genuine hope for improving outcomes.

4. Treatment of Relapse

If JMML returns after transplant (30-40% of cases):

Options include:

• Donor lymphocyte infusions (boosting graft-versus-leukaemia effect)
• Second bone marrow transplant
• Targeted therapy (MEK inhibitors, azacitidine)
• Clinical trial participation

Outcomes: Relapsed JMML is challenging, but some children achieve second remissions and a cure with additional treatment.

Long-Term Follow-Up After JMML Treatment

Children successfully treated for JMML require long-term follow-up monitoring for:

Disease Monitoring

Regular assessments:

• Blood counts every 1-3 months initially, then less frequently
• Bone marrow examinations as needed if blood counts are abnormal
• Chimerism testing (ensuring donor cells remain dominant)

Relapse surveillance: The highest risk is the first 2 years post-transplant. After 5 years disease-free, relapse becomes very uncommon.

Late Effects Monitoring

Transplant and chemotherapy can cause late effects requiring monitoring:

Growth and development: Height, weight, puberty development 

Thyroid function: Annual testing 

Cardiac function: Periodic echocardiograms 

Fertility: Counselling and monitoring when appropriate 

Secondary cancers: Rare but increased risk requiring vigilance 

Psychosocial adjustment: School performance, emotional well-being, quality of life

Good news: Many children treated successfully for JMML grow up to lead normal, healthy lives, attending regular school, participating in activities, forming friendships, and eventually pursuing careers and relationships.

JMML vs CMML: Important Differences

Parents researching JMML often find information about CMML (chronic myelomonocytic leukaemia) and wonder about the connections between the two.

Key differences:

Aspect	JMML	CMML
Age group	Young children (under 4)	Adults (median age 71)
Genetics	RAS pathway mutations	Different mutations (TET2, SRSF2, ASXL1)
Behaviour	Childhood myeloproliferative disorder	Adult myelodysplastic/myeloproliferative disorder
Treatment	Bone marrow transplant curative	Transplant is rarely performed due to age; hypomethylating agents are used
Prognosis	50-60% cured with transplant	Median survival 2-3 years without transplant

Bottom line: Despite similar names and some shared features (elevated monocytes), JMML and CMML are distinct diseases affecting different age groups, with distinct biology and treatments.

Why Choose Dr Satyendra Katewa for JMML Care?

Juvenile myelomonocytic leukaemia is so rare that expertise matters tremendously. As a leading JMML specialist in Delhi and experienced paediatric haematologist, Dr Satyendra Katewa provides the specialised care this challenging disease demands.

Expertise in Rare Paediatric Leukaemia

• Extensive experience diagnosing and managing rare childhood leukaemia JMML
• Deep understanding of JMML treatment guidelines and latest research
• Skilled in complex diagnostic workup, including genetic testing interpretation
• Expert coordination of JMML treatment in children from diagnosis through transplant and beyond

Bone Marrow Transplant Coordination

Whilst transplants are performed at specialised transplant centres, Dr Katewa:

• Determines optimal transplant timing
• Coordinates with transplant teams, ensuring seamless care transition
• Manages pre-transplant disease control
• Provides long-term post-transplant follow-up
• Treats complications if they arise

Access to Advanced Therapies

• Awareness of clinical trials and emerging targeted therapy for JMML
• Access to MEK inhibitors and other novel agents when appropriate
• Connections with national and international JMML experts for complex cases
• Participation in collaborative research improves JMML outcomes

Family-Centred Compassionate Care

JMML diagnosis is terrifying for families. Dr Katewa provides:

Clear communication: Explaining complex information in understandable terms, honestly discussing prognosis and treatment options

Emotional support: Acknowledging the fear and stress, giving reassurance grounded in expertise and compassion

Coordination: Liaising with transplant teams, other specialists, support services, ensuring families aren’t left navigating alone

Accessibility: Available for questions and concerns throughout the challenging treatment journey

JMML is a challenging diagnosis for any family. My role is to ensure that every child receives timely, evidence-based care, clear guidance, and compassionate support at each step of the treatment journey, while helping families make informed decisions with confidence and hope. – Dr Satyendra Katewa

International Patient Support

Dr Satyendra Katewa welcomes international families seeking JMML treatment in India. JMML expertise is concentrated in a few centres worldwide, and India offers:

• World-class paediatric haematology and transplant expertise
• Significantly lower treatment costs than in Western countries
• Comprehensive support services for international families

Support includes:

• Medical visa facilitation and documentation
• Pre-arrival consultation and evaluation
• Transparent treatment cost estimates
• Accommodation recommendations near the treatment centre
• Interpreter services, if needed
• Coordination with home country physicians
• Long-term follow-up via telemedicine after returning home

Book Your Consultation

If your child has been diagnosed with juvenile myelomonocytic leukaemia or you’re concerned about JMML symptoms in children, seek immediate evaluation from a paediatric haematology specialist.

What to bring:

• All previous medical records and test results
• Blood test reports (especially complete blood counts)
• Any bone marrow or genetic testing results
• List of current symptoms and their timeline
• Questions about your child’s care

You’ll receive:

• Expert evaluation and JMML diagnosis confirmation
• Comprehensive genetic testing, if not already done
• Clear explanation of findings and treatment options
• Personalised treatment plan including transplant coordination
• Support and guidance throughout your journey

There is hope. With expert care and a timely bone marrow transplant, many children with JMML are cured and grow up to live healthy, normal lives.

References

• International Consensus Guidelines for JMML Diagnosis and Treatment
• National Comprehensive Cancer Network (NCCN) Paediatric Guidelines
• European Working Group of Myelodysplastic Syndromes in Childhood (EWOG-MDS)
• Indian Council of Medical Research (ICMR) Haematology Protocols
• National Medical Commission (NMC) Standards