Overview
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a very rare and aggressive type of blood cancer that mainly affects infants and very young children. It is also known as AMKL with t(1;22) or acute megakaryoblastic leukemia with the RBM15-MRTFA fusion. In this disease, the bone marrow produces abnormal blood cells called megakaryoblasts, which are immature cells that would normally develop into the platelets that help your blood clot. Because of a specific genetic change — a swap of material between chromosomes 1 and 22 — these cells grow out of control and crowd out healthy blood cells. Children with this condition often show signs such as low blood counts, easy bruising or bleeding, fatigue, pale skin, fevers, and an enlarged liver or spleen. Some infants may also develop areas of abnormal tissue growth outside the bone marrow. The disease is almost exclusively seen in babies and children under the age of three, and it is not inherited from parents — the chromosome change happens on its own during early development. Treatment typically involves intensive chemotherapy designed for acute myeloid leukemia (AML). In some cases, a bone marrow (stem cell) transplant may be recommended. While this is a serious cancer, outcomes for infants with this specific chromosome change may be somewhat better compared to other forms of megakaryoblastic leukemia, especially when treated with modern intensive chemotherapy protocols. Ongoing research continues to explore targeted therapies and improved treatment strategies.
Key symptoms:
Extreme tiredness and fatiguePale skinEasy bruisingUnusual or excessive bleedingFrequent fevers or infectionsEnlarged liverEnlarged spleenSwollen belly in infantsPoor feeding or failure to thriveBone pain or irritabilityLow platelet countsLow red blood cell counts (anemia)Abnormal lumps or masses outside the bone marrow
Sporadic
Usually appears on its own, not inherited from a parent
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13).
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13).
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 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13).
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the specific treatment plan for my child, and how long will treatment last?,Is my child eligible for any clinical trials that might offer newer or targeted treatments?,What are the short-term and long-term side effects of the chemotherapy my child will receive?,Will my child need a bone marrow transplant, and if so, how do we find a donor?,What signs of complications should I watch for at home, and when should I go to the emergency room?,How will this treatment affect my child's growth and development in the long term?,What support services are available for our family during and after treatment?
Common questions about Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
What is Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)?
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a very rare and aggressive type of blood cancer that mainly affects infants and very young children. It is also known as AMKL with t(1;22) or acute megakaryoblastic leukemia with the RBM15-MRTFA fusion. In this disease, the bone marrow produces abnormal blood cells called megakaryoblasts, which are immature cells that would normally develop into the platelets that help your blood clot. Because of a specific genetic change — a swap of material between chromosomes 1 and 22 — these cells grow out of control and crowd out healthy blo
How is Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) inherited?
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) typically begin?
Typical onset of Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is infantile. Age of onset can vary across affected individuals.