Overview
Acute megakaryoblastic leukemia (AMKL) in children without Down syndrome is a rare and aggressive type of blood cancer. In this disease, the bone marrow produces abnormal megakaryoblasts — these are immature cells that would normally develop into megakaryocytes, the cells responsible for making platelets (the tiny blood cells that help with clotting). Instead of maturing properly, these abnormal cells multiply out of control and crowd out healthy blood cells in the bone marrow. Because healthy blood cell production is disrupted, children with AMKL often develop anemia (low red blood cells), which causes fatigue and paleness. They may also have low platelet counts, leading to easy bruising and bleeding, and low white blood cell counts, making them vulnerable to infections. Other symptoms can include bone pain, fever, enlarged liver or spleen, and general weakness. Some children may also develop abnormal tissue masses called chloromas. AMKL accounts for a small percentage of childhood acute myeloid leukemia (AML) cases. Importantly, AMKL in children without Down syndrome tends to have a worse prognosis compared to AMKL in children with Down syndrome. Treatment typically involves intensive chemotherapy, and many children will need a bone marrow (stem cell) transplant. Research into targeted therapies and new treatment approaches is ongoing to improve outcomes for these children.
Key symptoms:
Extreme tiredness and fatiguePale skinEasy bruisingUnusual or prolonged bleedingFrequent or severe infectionsFeverBone or joint painSwollen belly due to enlarged liver or spleenLoss of appetiteUnexplained weight lossShortness of breathSwollen lymph nodesSmall red or purple spots on the skin (petechiae)General weakness
Sporadic
Usually appears on its own, not inherited from a parent
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Acute megakaryoblastic leukemia in children without Down syndrome.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Acute megakaryoblastic leukemia in children without Down syndrome.
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific genetic subtype of AMKL does my child have, and how does that affect the treatment plan and prognosis?,Will my child need a bone marrow transplant, and if so, how do we find a suitable donor?,What are the short-term and long-term side effects of the recommended treatment?,Are there any clinical trials available that might benefit my child?,What signs or symptoms should prompt me to seek emergency care during treatment?,What support services are available for our family during and after treatment?,How will treatment affect my child's growth, development, and future fertility?
Common questions about Acute megakaryoblastic leukemia in children without Down syndrome
What is Acute megakaryoblastic leukemia in children without Down syndrome?
Acute megakaryoblastic leukemia (AMKL) in children without Down syndrome is a rare and aggressive type of blood cancer. In this disease, the bone marrow produces abnormal megakaryoblasts — these are immature cells that would normally develop into megakaryocytes, the cells responsible for making platelets (the tiny blood cells that help with clotting). Instead of maturing properly, these abnormal cells multiply out of control and crowd out healthy blood cells in the bone marrow. Because healthy blood cell production is disrupted, children with AMKL often develop anemia (low red blood cells), w
How is Acute megakaryoblastic leukemia in children without Down syndrome inherited?
Acute megakaryoblastic leukemia in children without Down syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Acute megakaryoblastic leukemia in children without Down syndrome typically begin?
Typical onset of Acute megakaryoblastic leukemia in children without Down syndrome is childhood. Age of onset can vary across affected individuals.
Which specialists treat Acute megakaryoblastic leukemia in children without Down syndrome?
1 specialists and care centers treating Acute megakaryoblastic leukemia in children without Down syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.