Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)

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Overview

Acute myeloid leukemia (AML) with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) is a specific and aggressive subtype of blood cancer. In this disease, the bone marrow — the spongy tissue inside your bones that makes blood cells — starts producing abnormal white blood cells that do not work properly. These abnormal cells crowd out healthy blood cells, leading to problems like infections, anemia (low red blood cells), and easy bleeding or bruising. What makes this subtype unique is a specific change in chromosome 3, where a piece of the chromosome either flips around (called an inversion) or swaps places between two copies of chromosome 3 (called a translocation). This rearrangement causes a gene called MECOM (also known as EVI1) to become overactive, which drives the cancer. This subtype is also commonly associated with abnormal platelet counts (the cells that help blood clot), which can sometimes be normal or even elevated, unlike most other forms of AML where platelet counts are low. This form of AML is considered high-risk because it tends to respond poorly to standard chemotherapy. It is classified by the World Health Organization as a distinct entity because of its unique biology and challenging prognosis. Treatment typically involves intensive chemotherapy followed by a stem cell transplant (also called a bone marrow transplant) when possible, as this offers the best chance for long-term remission. Unfortunately, even with aggressive treatment, this subtype has a higher rate of relapse compared to many other forms of AML. Clinical trials exploring new targeted therapies are an important option for patients with this diagnosis.

Also known as:

Key symptoms:

Feeling very tired or weak (fatigue)Frequent or severe infectionsEasy bruising or unusual bleedingPale skin from anemiaShortness of breathUnexplained feversNight sweatsBone or joint painUnintended weight lossLoss of appetiteSwollen gumsSmall red or purple spots on the skin (petechiae)Enlarged spleen or liver causing abdominal fullness

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 inv(3)(q21q26.2) or t(3;3)(q21;q26.2).

View clinical trials →

No actively recruiting trials found for Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) community →

No specialists are currently listed for Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2).

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 inv(3)(q21q26.2) or t(3;3)(q21;q26.2).

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)

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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 exact genetic profile of my leukemia, and how does it affect my treatment options?,Am I a candidate for a stem cell transplant, and if so, when would that happen?,Are there any clinical trials available for this specific type of AML that I should consider?,What are the expected side effects of the recommended treatment, and how will they be managed?,What is my realistic prognosis, and what factors could improve or worsen my outcome?,How often will I need blood tests and bone marrow biopsies to monitor my response to treatment?,What support services are available to help me and my family cope with this diagnosis?

Common questions about Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)

What is Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)?

Acute myeloid leukemia (AML) with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) is a specific and aggressive subtype of blood cancer. In this disease, the bone marrow — the spongy tissue inside your bones that makes blood cells — starts producing abnormal white blood cells that do not work properly. These abnormal cells crowd out healthy blood cells, leading to problems like infections, anemia (low red blood cells), and easy bleeding or bruising. What makes this subtype unique is a specific change in chromosome 3, where a piece of the chromosome either flips around (called an inversion) or swaps plac

How is Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) inherited?

Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) typically begin?

Typical onset of Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) is adult. Age of onset can vary across affected individuals.