Acute myeloid leukemia with t(6;9)(p23;q34)

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Overview

Acute myeloid leukemia with t(6;9)(p23;q34), sometimes called AML with DEK-NUP214 fusion, is a rare and aggressive type of blood cancer. In this disease, a specific genetic change occurs in the leukemia cells where parts of chromosome 6 and chromosome 9 swap places (called a translocation). This swap creates an abnormal fusion gene called DEK-NUP214, which drives the uncontrolled growth of immature white blood cells (called blasts) in the bone marrow. As these abnormal cells build up, they crowd out healthy blood cells, leading to problems like anemia, infections, and easy bleeding. Patients often experience fatigue, frequent infections, bruising, and bone pain. A notable feature of this subtype is that it is frequently associated with a condition called basophilia, meaning there are higher-than-normal levels of basophils (a type of white blood cell) in the blood. This subtype tends to affect younger adults and is considered to have a poor prognosis compared to many other forms of AML. Treatment typically involves intensive chemotherapy, and because outcomes with chemotherapy alone are often unfavorable, doctors usually recommend an allogeneic stem cell transplant (a transplant using donor cells) when possible. Newer targeted therapies and clinical trials are being explored to improve outcomes for patients with this challenging subtype. Early and accurate diagnosis through genetic testing of the leukemia cells is essential for guiding the best treatment plan.

Also known as:

Key symptoms:

Extreme tiredness and fatigueFrequent or severe infectionsEasy bruising or unusual bleedingPale skin due to anemiaBone or joint painUnexplained feversNight sweatsUnintended weight lossShortness of breathTiny red spots on the skin (petechiae)Swollen gumsFeeling full or discomfort from an enlarged spleenElevated basophil count in blood tests

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Acute myeloid leukemia with t(6;9)(p23;q34).

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No actively recruiting trials found for Acute myeloid leukemia with t(6;9)(p23;q34) at this time.

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Search ClinicalTrials.gov ↗Join the Acute myeloid leukemia with t(6;9)(p23;q34) community →

No specialists are currently listed for Acute myeloid leukemia with t(6;9)(p23;q34).

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Acute myeloid leukemia with t(6;9)(p23;q34).

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Community

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Latest news about Acute myeloid leukemia with t(6;9)(p23;q34)

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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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 does the t(6;9) translocation mean for my specific treatment plan and prognosis?,Does my leukemia also have a FLT3 mutation, and if so, should I receive a FLT3 inhibitor?,Am I a candidate for a stem cell transplant, and when should it be done?,Are there any clinical trials available for my specific subtype of AML?,What are the short-term and long-term side effects of the recommended treatment?,How will treatment affect my fertility, and should I consider fertility preservation before starting?,What support services are available to help me and my family cope during treatment?

Common questions about Acute myeloid leukemia with t(6;9)(p23;q34)

What is Acute myeloid leukemia with t(6;9)(p23;q34)?

Acute myeloid leukemia with t(6;9)(p23;q34), sometimes called AML with DEK-NUP214 fusion, is a rare and aggressive type of blood cancer. In this disease, a specific genetic change occurs in the leukemia cells where parts of chromosome 6 and chromosome 9 swap places (called a translocation). This swap creates an abnormal fusion gene called DEK-NUP214, which drives the uncontrolled growth of immature white blood cells (called blasts) in the bone marrow. As these abnormal cells build up, they crowd out healthy blood cells, leading to problems like anemia, infections, and easy bleeding. Patients

How is Acute myeloid leukemia with t(6;9)(p23;q34) inherited?

Acute myeloid leukemia with t(6;9)(p23;q34) follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Acute myeloid leukemia with t(6;9)(p23;q34) typically begin?

Typical onset of Acute myeloid leukemia with t(6;9)(p23;q34) is adult. Age of onset can vary across affected individuals.