Overview
Inherited acute myeloid leukemia (AML) is a rare form of blood cancer that runs in families. Unlike most cases of AML, which occur without a clear inherited cause, this form is passed down through families due to changes (mutations) in specific genes. These gene mutations increase the risk of developing AML, a cancer where the bone marrow makes too many abnormal white blood cells. These abnormal cells crowd out healthy blood cells, leading to problems like frequent infections, easy bruising or bleeding, fatigue, and anemia. People with inherited AML may develop the disease at a younger age than those with non-inherited forms. Some families may notice that multiple relatives have been diagnosed with AML or other blood cancers. The condition can also be associated with other blood disorders, such as myelodysplastic syndrome (MDS), which may develop before full-blown leukemia appears. Treatment for inherited AML is similar to other forms of AML and typically involves intensive chemotherapy to destroy the cancer cells, followed by a bone marrow (stem cell) transplant when possible. Because this is an inherited condition, family members may also need genetic testing and monitoring. Early detection through regular blood tests can be important for at-risk family members. Genetic counseling is strongly recommended for affected families to understand the risks and plan appropriate screening. Research is ongoing to better understand the specific genetic causes and to develop more targeted treatments.
Also known as:
Key symptoms:
Extreme tiredness and fatigueFrequent or severe infectionsEasy bruisingUnusual or prolonged bleedingPale skin due to anemiaShortness of breathUnexplained feversBone or joint painSwollen lymph nodesUnintended weight lossNight sweatsSmall red or purple spots on the skin (petechiae)Feeling full or discomfort in the abdomen due to enlarged spleen
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
2 eventsGruppo Italiano Malattie EMatologiche dell'Adulto
Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableMylotarg
treatment of newly-diagnosed CD33-positive acute myeloid leukemia (AML) in adults and pediatric patients 1 month and older
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
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Inherited acute myeloid leukemia.
Community
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Start the conversation →Latest news about Inherited acute myeloid leukemia
Disease timeline:
New recruiting trial: Next Generation Sequencing (NGS) in Familial Acute Myeloid Leukemia and Myelodisplastic Syndromes
A new clinical trial is recruiting patients for Inherited acute myeloid leukemia
New recruiting trial: Observational Study for the Evaluation of Incidence of Familial AML/MDSs in Patients With Myeloid Neoplasms
A new clinical trial is recruiting patients for Inherited acute myeloid leukemia
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.Which specific gene mutation is causing the inherited AML in our family?,Should other family members be tested for this genetic mutation?,Is a bone marrow transplant recommended, and can family members safely be donors?,What is the risk of the leukemia coming back after treatment?,How often should at-risk family members have blood tests or other screening?,Are there any clinical trials specifically for inherited forms of AML?,What long-term follow-up care will be needed after treatment?
Common questions about Inherited acute myeloid leukemia
What is Inherited acute myeloid leukemia?
Inherited acute myeloid leukemia (AML) is a rare form of blood cancer that runs in families. Unlike most cases of AML, which occur without a clear inherited cause, this form is passed down through families due to changes (mutations) in specific genes. These gene mutations increase the risk of developing AML, a cancer where the bone marrow makes too many abnormal white blood cells. These abnormal cells crowd out healthy blood cells, leading to problems like frequent infections, easy bruising or bleeding, fatigue, and anemia. People with inherited AML may develop the disease at a younger age th
How is Inherited acute myeloid leukemia inherited?
Inherited acute myeloid leukemia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Inherited acute myeloid leukemia?
Yes — 2 recruiting clinical trials are currently listed for Inherited acute myeloid leukemia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Inherited acute myeloid leukemia?
23 specialists and care centers treating Inherited acute myeloid leukemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.