What are the other Names for this Condition? (Also known as/Synonyms)

• AML with CBFB::MYH11 Fusion
• AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) Translocation
• CBFB::MYH11 Fusion-Positive AML

What is Acute Myeloid Leukemia with CBFB::MYH11 Fusion? (Definition/Background Information)

• Acute Myeloid Leukemia (AML) with CBFB::MYH11 Fusion is a specific subtype of AML, a type of cancer that affects the blood and bone marrow. CBFB::MYH11 fusion refers to a genetic abnormality where the core binding factor beta (CBFB) gene on chromosome 16 is fused with the myosin heavy chain 11 (MYH11) gene
• According to the World Health Organization (WHO) classification system, AML with CBFB::MYH11 Fusion is a form of AML with recurrent genetic abnormalities. This subtype is associated with distinct clinical and biological features, such as abnormal eosinophils in the blood, platelet abnormalities, and a characteristic morphology of leukemic cells, making it important for accurate diagnosis and targeted treatment strategies
• Individuals with Acute Myeloid Leukemia with CBFB::MYH11 Fusion typically present with signs and symptoms similar to other subtypes of AML, including fatigue, weakness, fever, easy bruising or bleeding, and frequent infections. Complications may arise due to bone marrow failure, such as anemia, thrombocytopenia, and neutropenia, leading to increased susceptibility to bleeding and infections
• Diagnosing this malignant condition involves bone marrow aspiration, biopsy, and cytogenetic and molecular genetic testing to identify the characteristic chromosomal translocation. The treatment for AML with CBFB::MYH11 Fusion typically involves induction chemotherapy to achieve remission, followed by consolidation therapy, which may include additional chemotherapy or stem cell transplantation
• Targeted therapies and novel treatment approaches may also be considered based on the specific genetic features of the disease. The prognosis for those with AML with CBFB::MYH11 fusion varies depending on factors such as age, overall health, genetic profile, and response to treatment. With appropriate therapy, some individuals achieve long-term remission, while others may experience disease relapse or require ongoing management to control the disease
• Close monitoring and personalized treatment strategies are essential to optimize outcomes for individuals with AML with CBFB::MYH11 Fusion. The presence of CBFB::MYH11 fusion can influence the prognosis and treatment approach for AML patients, as it is associated with a more favorable outcome compared to some other AML subtypes.

Who gets Acute Myeloid Leukemia with CBFB::MYH11 Fusion? (Age and Sex Distribution)

• Acute Myeloid Leukemia with CBFB::MYH11 Fusion can occur in individuals of various age groups, but it is most commonly -diagnosed in adults
• The median age at diagnosis for this subtype of AML is around 40 to 50 years old. It is relatively rare in children and adolescents compared to adults
• There is no significant predilection for either gender, and both males and females are affected equally
• Worldwide, individuals across all racial and ethnic groups are prone to this malignancy

What are the Risk Factors for Acute Myeloid Leukemia with CBFB::MYH11 Fusion? (Predisposing Factors)

The risk factors for Acute Myeloid Leukemia (AML) with CBFB::MYH11 Fusion may include the following:

• Genetic predisposition:
  • Individuals with certain inherited genetic syndromes, such as Li-Fraumeni syndrome, Down syndrome, or neurofibromatosis type 1, have an increased risk of developing AML, including subtypes like AML with CBFB::MYH11 Fusion
  • Previous chemotherapy or radiation therapy: Exposure to certain chemotherapeutic agents or high-dose radiation, especially for other cancers, can increase the risk of developing secondary AML, including those with specific genetic abnormalities like CBFB::MYH11 fusion
• Individuals with certain blood disorders, such as myelodysplastic syndromes (MDS) or myeloproliferative neoplasms (MPNs), have a higher risk of developing AML, including specific subtypes like CBFB::MYH11 Fusion-Positive AML
• Environmental factors: Exposure to benzene, a chemical found in some industrial settings, tobacco smoke, or certain pesticides, has been linked to an increased risk of developing AML
• Age: While the condition can develop at any age, the risk increases with advancing age, with most cases diagnosed in adults

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Acute Myeloid Leukemia with CBFB::MYH11 Fusion? (Etiology)

The causes for Acute Myeloid Leukemia (AML) with CBFB::MYH11 Fusion may include:

• Chromosomal translocation:
  • The primary cause of AML with CBFB::MYH11 Fusion is a specific chromosomal translocation involving chromosomes 16, leading to the fusion of the CBFB (Core Binding Factor Beta) gene with the MYH11 (Myosin Heavy Chain 11) gene
  • This fusion gene is a result of chromosomal translocation, specifically inv(16)(p13.1q22) or t(16;16)(p13.1;q22), leading to the formation of a hybrid protein that plays a role in the development of leukemia
  • Role of fusion protein: The CBFB::MYH11 fusion protein interferes with normal cellular processes, including regulation of gene expression and cell differentiation, contributing to the development of leukemia
• Genetic predisposition: In some cases, there may be an underlying genetic predisposition or susceptibility that increases the likelihood of developing chromosomal abnormalities
• Secondary to other conditions: AML with CBFB::MYH11 Fusion can also arise as secondary leukemia following treatment with certain chemotherapeutic agents or radiation therapy for other cancers
• Environmental factors: While the exact environmental triggers for CBFB::MYH11 Fusion-Positive AML are not fully understood, exposure to carcinogens such as benzene or ionizing radiation may contribute to genetic mutations and chromosomal abnormalities

The development of AML with CBFB::MYH11 fusion is likely a complex interplay between genetic predisposition, environmental exposures, and random genetic mutations, leading to the formation of the fusion gene and subsequent leukemia.

What are the Signs and Symptoms of Acute Myeloid Leukemia with CBFB::MYH11 Fusion?

The signs and symptoms for Acute Myeloid Leukemia (AML) with CBFB::MYH11 Fusion may vary from one individual to another and can include:

General symptoms:

• Fatigue and weakness due to anemia (low red blood cell count)
• Increased susceptibility to infections due to decreased white blood cells
• Easy bruising and bleeding tendencies due to low platelet count (thrombocytopenia)

Specific symptoms associated with CBFB::MYH11 Fusion-Positive AML:

• Presence of abnormal eosinophils in the blood (eosinophilia)
• Abnormalities in platelet morphology, such as large platelets with abnormal granulation
• Possible organomegaly (enlarged organs), such as spleen and liver enlargement, due to infiltration by leukemic cells

Other potential symptoms include:

• Bone pain or joint pain, especially in the long bones
• Unexplained weight loss
• Paleness and skin changes
• Swollen lymph nodes (lymphadenopathy)

How is Acute Myeloid Leukemia with CBFB::MYH11 Fusion Diagnosed?

The diagnosis of Acute Myeloid Leukemia with CBFB::MYH11 Fusion may involve a combination of the following tests and examinations:

• Complete physical examination and medical history evaluation
• Blood tests:
  • Complete blood count (CBC) to assess the levels of red blood cells, white blood cells, and platelets
  • Peripheral blood smear to examine the morphology of blood cells, including abnormal eosinophils
• Bone marrow biopsy and aspiration: A bone marrow sample is collected and examined under a microscope to look for abnormal cell morphology and genetic abnormalities such as CBFB::MYH11 fusion and assess cellularity
• Cytogenetic analysis: Chromosome analysis (karyotyping) and fluorescent in situ hybridization (FISH) are performed to detect specific chromosomal abnormalities, including the CBFB::MYH11 fusion gene
• Molecular testing: Polymerase chain reaction (PCR) or next-generation sequencing (NGS) techniques may be used to confirm the presence of the CBFB::MYH11 fusion gene and other genetic mutations associated with AML
• Immunophenotyping: Flow cytometry analyzes the expression of cell surface markers on leukemia cells, helping classify the AML subtype and guide treatment decisions
• Imaging studies: Imaging tests such as X-rays, computed tomography (CT) scans, or magnetic resonance imaging (MRI) may be done to assess for organomegaly or detect any leukemic infiltrates in organs

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Acute Myeloid Leukemia with CBFB::MYH11 Fusion?

The possible complications of Acute Myeloid Leukemia with CBFB::MYH11 Fusion may include:

• Infections: Due to the suppression of normal white blood cell production, patients with AML, including CBFB::MYH11 fusion-positive AML, are at a higher risk of developing infections that can be severe and life-threatening
• Bleeding disorders: Low platelet counts (thrombocytopenia) in AML patients can lead to bleeding disorders, resulting in easy bruising, petechiae (small red or purple spots on the skin), and potentially serious bleeding episodes
• Anemia: Reduced red blood cell production in the bone marrow can lead to anemia, causing fatigue, weakness, and shortness of breath, especially during physical activity
• Organ dysfunction: Leukemic cells may infiltrate and affect the normal functioning of organs such as the liver, spleen, and kidneys, leading to organomegaly (enlarged organs) and potential organ dysfunction
• Disseminated intravascular coagulation (DIC): AML patients, particularly those with severe thrombocytopenia, may develop DIC, a serious condition characterized by abnormal blood clotting throughout the body, which can lead to both bleeding and clotting complications
• Tumor lysis syndrome (TLS): TLS is a metabolic complication that can occur in AML patients undergoing treatment. It causes the rapid breakdown of cancer cells and the release of large amounts of potassium, phosphate, and uric acid into the bloodstream, leading to kidney damage and electrolyte imbalances
• Secondary cancers: Some AML treatments, such as chemotherapy and radiation therapy, may increase the risk of developing secondary cancers in the future

How is Acute Myeloid Leukemia with CBFB::MYH11 Fusion Treated?

The treatment measures for Acute Myeloid Leukemia (AML) with CBFB::MYH11 Fusion may involve:

Chemotherapy:

• Induction chemotherapy is the initial treatment approach to achieve remission by destroying leukemic cells in the bone marrow and blood
• Common chemotherapy regimens for AML may include combinations of cytarabine (Ara-C) and anthracyclines such as daunorubicin or idarubicin
• Consolidation therapy follows induction to eliminate any remaining leukemia cells and reduce the risk of relapse

Stem cell transplantation:

• Allogeneic stem cell transplantation (also known as bone marrow transplant) may be considered for eligible patients, especially those at high risk of relapse or with relapsed/refractory disease
• This procedure involves replacing diseased bone marrow with healthy stem cells from a compatible donor to help rebuild healthy blood and immune systems

Targeted therapy:

• Tyrosine kinase inhibitors (TKIs) such as imatinib may be used in cases where AML with CBFB::MYH11 Fusion responds to targeted therapy against the fusion protein
• Other targeted agents targeting specific genetic mutations or pathways may be considered based on molecular profiling

Supportive care:

• Supportive treatments are essential to manage complications such as infections, bleeding disorders, anemia, and organ dysfunction
• Blood transfusions, growth factors (e.g., granulocyte colony-stimulating factor), and antibiotics are commonly used to support patients during treatment

Clinical trials: Participation in clinical trials evaluating novel therapies, immunotherapies, or targeted agents specific to AML with CBFB::MYH11 Fusion may be an option for some patients, offering access to innovative treatments and potential benefits.

Follow-up care:

• Regular monitoring, including blood tests, bone marrow biopsies, and imaging studies, is crucial to assess treatment response, detect relapse early, and manage any treatment-related complications
• Long-term follow-up care focuses on survivorship, managing late effects of treatment, and addressing quality of life issues

How can Acute Myeloid Leukemia with CBFB::MYH11 Fusion be Prevented?

Currently, no specific measures or strategies are known to prevent the development of Acute Myeloid Leukemia (AML) with CBFB::MYH11 Fusion. However, some general recommendations and risk-reduction strategies may apply, including:

• Avoiding exposure to carcinogens: Limiting exposure to known carcinogens such as benzene, tobacco smoke, and certain industrial chemicals may help reduce the risk of developing AML, including specific subtypes like CBFB::MYH11 fusion-positive AML
• Genetic counseling: Individuals with a family history of leukemia or other blood disorders may consider genetic counseling and testing to assess their risk and understand potential genetic predispositions
• Healthy lifestyle choices: Maintaining a healthy lifestyle with a balanced diet, regular exercise, and adequate sleep may contribute to overall well-being and potentially lower the risk of developing certain cancers, although no direct evidence links lifestyle choices to preventing CBFB::MYH11 fusion-positive AML
• Occupational safety measures: Workers in industries with potential exposure to carcinogens or hazardous substances should follow proper safety protocols, use protective equipment, and adhere to occupational health guidelines to minimize risks
• Early detection and monitoring: While prevention strategies for specific genetic subtypes like CBFB::MYH11 fusion-positive AML are not yet established, early detection through routine health screenings, awareness of symptoms, and prompt medical evaluation can lead to timely diagnosis and treatment, potentially improving outcomes

What is the Prognosis of Acute Myeloid Leukemia with CBFB::MYH11 Fusion? (Outcomes/Resolutions)

The Prognosis of Acute Myeloid Leukemia (AML) with CBFB::MYH11 Fusion depends upon the severity of signs and symptoms and associated complications, if any.

• Favorable prognosis: Patients with AML with CBFB::MYH11 fusion often have a more favorable prognosis than patients with other subtypes of AML, especially if they achieve complete remission after induction chemotherapy
• Remission rates: The remission rates for CBFB::MYH11 fusion-positive AML are relatively high, with a significant proportion of patients achieving complete remission following initial treatment
• Relapse risk: Despite the initial response to treatment, there is still a risk of disease relapse in some patients, particularly if they have additional high-risk features or genetic mutations
• Survival rates:
  • The overall survival rates for AML with CBFB::MYH11 fusion vary depending on age, overall health, treatment response, and other genetic abnormalities
  • Generally, younger patients without significant comorbidities and those who undergo allogeneic stem cell transplantation may have better long-term survival outcomes
• Treatment advances: Ongoing research and advancements in targeted therapies, immunotherapies, and stem cell transplantation techniques continue to improve outcomes and survival rates for patients with CBFB::MYH11 Fusion-Positive AML
• Risk stratification: Risk stratification based on cytogenetic and molecular profiling helps tailor treatment approaches and predict outcomes, guiding clinicians in selecting the most appropriate therapeutic strategies for individual patients

Additional and Relevant Useful Information for Acute Myeloid Leukemia with CBFB::MYH11 Fusion:

• Psychological support, patient education, and involvement in support groups can play a vital role in coping with the emotional and mental challenges of acute myeloid leukemia (AML) diagnosis and treatment
• Empowering patients with knowledge about their condition, treatment options, and self-care strategies can improve adherence to therapy and overall well-being