Acute myeloid leukemia with t(8;16)(p11;p13) translocation

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Overview

Acute myeloid leukemia (AML) with t(8;16)(p11;p13) translocation is a very rare subtype of blood cancer. In this disease, parts of chromosome 8 and chromosome 16 swap places, creating an abnormal fusion between two genes called KAT6A (also known as MYST3 or MOZ) and CREBBP (also known as CBP). This genetic change causes blood-forming cells in the bone marrow to grow out of control, producing large numbers of abnormal white blood cells that crowd out healthy blood cells. This subtype has some distinctive features that set it apart from other forms of AML. It is often associated with a specific type of white blood cell involvement called monocytic or myelomonocytic differentiation. A notable and unusual feature is that it can sometimes present with disseminated intravascular coagulation (DIC), a serious bleeding and clotting disorder. Another striking characteristic is that in newborns, this leukemia can occasionally go away on its own (spontaneous remission), though it may come back later. Symptoms are similar to other forms of AML and include fatigue, frequent infections, easy bruising or bleeding, fever, and bone pain. Treatment typically involves intensive chemotherapy, and in some cases, a bone marrow (stem cell) transplant may be recommended. The overall prognosis for this subtype is generally considered intermediate to poor, though outcomes vary depending on the patient's age, overall health, and response to initial treatment. Because of its rarity, treatment decisions are often guided by experience with AML in general, along with the specific clinical features of each patient's case.

Also known as:

Key symptoms:

Extreme tiredness and fatigueFrequent or severe infectionsEasy bruisingUnusual or prolonged bleedingFeverBone or joint painPale skinShortness of breathUnexplained weight lossLoss of appetiteSwollen gumsSkin lumps or rashes (leukemia cutis)Enlarged spleen or liverNight sweatsAbnormal blood clotting or bleeding problems (DIC)

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Acute myeloid leukemia with t(8;16)(p11;p13) translocation.

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No actively recruiting trials found for Acute myeloid leukemia with t(8;16)(p11;p13) translocation at this time.

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No specialists are currently listed for Acute myeloid leukemia with t(8;16)(p11;p13) translocation.

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(8;16)(p11;p13) translocation.

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Community

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Latest news about Acute myeloid leukemia with t(8;16)(p11;p13) translocation

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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(8;16) translocation mean for my specific treatment plan and prognosis?,Am I a candidate for a stem cell (bone marrow) transplant, and when would that be considered?,Are there any clinical trials available for this specific subtype of AML?,What are the signs of relapse I should watch for after treatment?,How will you manage the risk of disseminated intravascular coagulation (DIC)?,What supportive care will be provided during chemotherapy to manage side effects?,For neonatal cases: How often should blood work be monitored during spontaneous remission, and what would trigger starting treatment?

Common questions about Acute myeloid leukemia with t(8;16)(p11;p13) translocation

What is Acute myeloid leukemia with t(8;16)(p11;p13) translocation?

Acute myeloid leukemia (AML) with t(8;16)(p11;p13) translocation is a very rare subtype of blood cancer. In this disease, parts of chromosome 8 and chromosome 16 swap places, creating an abnormal fusion between two genes called KAT6A (also known as MYST3 or MOZ) and CREBBP (also known as CBP). This genetic change causes blood-forming cells in the bone marrow to grow out of control, producing large numbers of abnormal white blood cells that crowd out healthy blood cells. This subtype has some distinctive features that set it apart from other forms of AML. It is often associated with a specific

How is Acute myeloid leukemia with t(8;16)(p11;p13) translocation inherited?

Acute myeloid leukemia with t(8;16)(p11;p13) translocation follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.