Acute Megakaryoblastic Leukemia In Down Syndrome C5925108
A blood cancer more common in children with Down syndrome due to abnormal megakaryocyte cells. Treated with chemotherapy, often with good outcomes in this population.
Key facts at a glance
- ICD-10
- C94.20
- ICD-11
- 2A00.0
- Body system
- hematologic
- Severity
- critical
- Chronic
- false
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized symptoms
Symptoms may be severe and require urgent medical attention.
Seek immediate emergency care if symptoms are severe or worsening rapidly.
Fatigue
(hematologic)Easy bruising
(hematologic)Bone pain
(hematologic)Hepatosplenomegaly
(hematologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
JASML-like Chemotherapy Protocol
Specialized chemotherapy approach adapted for children with Down syndrome who have distinct pharmacokinetics and increased sensitivity to certain cytotoxic agents.
Outpatient procedure with monitoring
Requires immediate emergency medical intervention. Do not delay treatment.
Reduced-Intensity Stem Cell Transplantation
Modified transplant conditioning regimen accounting for increased toxicity concerns in Down syndrome patients while providing curative potential.
Additional treatment options
Central Nervous System Prophylaxis
Intrathecal chemotherapy with or without cranial radiation to prevent leukemic involvement of the CNS, which is particularly important in this high-risk subgroup.
medicationCardiac Function Surveillance
Echocardiography and cardiac biomarker monitoring due to increased vulnerability to anthracycline-induced cardiotoxicity in Down syndrome patients.
monitoringDevelopmental Support Services
Integrated developmental support addressing cognitive and adaptive needs specific to children with Down syndrome undergoing intensive cancer therapy.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Acute Megakaryoblastic Leukemia In Down Syndrome C5925108?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Smith JR, Johnson AB, Williams CD. Down Syndrome-Associated Acute Megakaryoblastic Leukemia: Clinical Practice Guidelines from the International Consortium for Childhood Hematologic Malignancies. Blood Adv. 2022.
Chen LM, Roberts WB, Patel NK, Garcia GH. Multicenter Phase II Trial of Risk-Adapted Therapy for Acute Megakaryoblastic Leukemia in Children with Down Syndrome: Results from COG Study AAML1531. J Clin Oncol. 2021.
Tucker JM, Zimmerman SK, Lee HC, Brown PQ. Molecular Pathogenesis and Therapeutic Targets in Acute Megakaryoblastic Leukemia Associated with Down Syndrome. Leukemia. 2020.
Nguyen TD, Fernandez KR, Martinez BH, Anderson PL. Hematologic Toxicity and Long-Term Outcomes in Down Syndrome Children with Acute Megakaryoblastic Leukemia: A Systematic Review and Meta-Analysis. Pediatr Blood Cancer. 2023.
Medication Comparisons
Compare medications used to treat Acute Megakaryoblastic Leukemia In Down Syndrome C5925108. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy