Overview
Acute myeloid leukemia with NPM1 somatic mutations (often called NPM1-mutated AML) is a specific type of blood cancer that affects the bone marrow — the spongy tissue inside your bones where blood cells are made. In this disease, immature white blood cells called myeloid blasts grow out of control and crowd out normal blood cells. What makes this subtype unique is that the cancer cells carry a mutation (change) in a gene called NPM1. This mutation is not inherited from your parents — it happens during your lifetime in the blood-forming cells, which is why it is called a "somatic" mutation. Because normal blood cell production is disrupted, patients often experience fatigue, frequent infections, easy bruising or bleeding, and shortness of breath. The disease can come on quickly, which is why it is called "acute." Without treatment, it can progress rapidly. The good news is that NPM1-mutated AML is generally considered one of the more favorable subtypes of AML, especially when it occurs without certain other high-risk genetic changes (like FLT3-ITD mutations). Treatment typically involves intensive chemotherapy, and in many cases, patients can achieve remission. Stem cell transplant may be considered depending on the patient's risk profile and response to initial treatment. Newer targeted therapies and clinical trials are also expanding options for patients with this subtype.
Also known as:
Key symptoms:
Extreme tiredness and fatigueFrequent or severe infectionsEasy bruisingUnusual or prolonged bleeding (nosebleeds, bleeding gums)Pale skinShortness of breathUnexplained feversNight sweatsBone or joint painUnintended weight lossLoss of appetiteTiny red spots on the skin (petechiae)Swollen gumsFeeling of fullness or discomfort in the abdomen due to enlarged spleen or liver
Sporadic
Usually appears on its own, not inherited from a parent
Adult
Begins in adulthood (age 18 or older)
Treatments
6 availableIdhifa
IDHIFA is indicated for the treatment of adult patients with relapsed or refractory acute myeloid leukemia (AML) with an isocitrate dehydrogenase-2 (IDH2) mutation as detected by an FDA-approved test
Komzifti
KOMZIFTI is indicated for the treatment of adult patients with relapsed or refractory acute myeloid leukemia (AML) with a susceptible nucleophosmin 1 (NPM1) mutation who have no satisfactory alternati…
KOMZIFTI is indicated for the treatment of adult patients with relapsed or refractory acute myeloid leukemia (AML) with a susceptible nucleophosmin 1 (NPM1) mutation who have no satisfactory alternative treatment options
XOSPATA
XOSPATA is indicated for the treatment of adult patients who have relapsed or refractory acute myeloid leukemia (AML) with a FMS-like tyrosine kinase 3 (FLT3) mutation as detected by an FDA-approved t…
XOSPATA is indicated for the treatment of adult patients who have relapsed or refractory acute myeloid leukemia (AML) with a FMS-like tyrosine kinase 3 (FLT3) mutation as detected by an FDA-approved test.
Scemblix
Ph+ CML in CP with the T315I mutation
Rezlidhia
indicated for the treatment of adult patients with relapsed or refractory acute myeloid leukemia (AML) with a susceptible isocitrate dehydrogenase-1 (IDH1) mutation as detected by an FDA-approved test
Voranigo
indicated for the treatment of adult and pediatric patients 12 years and older with Grade 2 astrocytoma or oligodendroglioma with a susceptible isocitrate dehydrogenase-1 (IDH1) or isocitrate dehydrog…
indicated for the treatment of adult and pediatric patients 12 years and older with Grade 2 astrocytoma or oligodendroglioma with a susceptible isocitrate dehydrogenase-1 (IDH1) or isocitrate dehydrogenase-2 (IDH2) mutation, as detected by an FDA-approved test, following surgery including biopsy, sub-total resection, or gross total resection
Clinical Trials
View all trials with filters →No actively recruiting trials found for Acute myeloid leukemia with NPM1 somatic mutations at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Acute myeloid leukemia with NPM1 somatic mutations.
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 Acute myeloid leukemia with NPM1 somatic mutations.
Community
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Start the conversation →Latest news about Acute myeloid leukemia with NPM1 somatic mutations
1 articlesCaregiver 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 my complete genetic profile — do I have any other mutations besides NPM1, especially FLT3?,Based on my specific mutation profile, what is my expected prognosis and chance of remission?,Will I need a stem cell transplant, or can chemotherapy alone be curative in my case?,How will you monitor for measurable residual disease (MRD) after treatment, and what happens if it is detected?,Are there any clinical trials available that might be appropriate for my specific type of AML?,What are the short-term and long-term side effects of the recommended treatment?,What should I do if I develop a fever or signs of infection during treatment?
Common questions about Acute myeloid leukemia with NPM1 somatic mutations
What is Acute myeloid leukemia with NPM1 somatic mutations?
Acute myeloid leukemia with NPM1 somatic mutations (often called NPM1-mutated AML) is a specific type of blood cancer that affects the bone marrow — the spongy tissue inside your bones where blood cells are made. In this disease, immature white blood cells called myeloid blasts grow out of control and crowd out normal blood cells. What makes this subtype unique is that the cancer cells carry a mutation (change) in a gene called NPM1. This mutation is not inherited from your parents — it happens during your lifetime in the blood-forming cells, which is why it is called a "somatic" mutation. Be
How is Acute myeloid leukemia with NPM1 somatic mutations inherited?
Acute myeloid leukemia with NPM1 somatic mutations follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Acute myeloid leukemia with NPM1 somatic mutations typically begin?
Typical onset of Acute myeloid leukemia with NPM1 somatic mutations is adult. Age of onset can vary across affected individuals.
What treatment and support options exist for Acute myeloid leukemia with NPM1 somatic mutations?
1 patient support program are currently tracked on UniteRare for Acute myeloid leukemia with NPM1 somatic mutations. See the treatments and support programs sections for copay assistance, eligibility, and contact details.