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

• AML with DEK::NUP214 Fusion
• DEK/NUP214-Rearranged AML
• DEK-NUP214 Positive AML

What is Acute Myeloid Leukemia with DEK::NUP214 Fusion? (Definition/Background Information)

• Acute Myeloid Leukemia with DEK::NUP214 fusion is a rare subtype of acute myeloid leukemia (AML) characterized by a specific genetic abnormality involving the fusion of two genes: DEK (DEK proto-oncogene) and NUP214 (nucleoporin 214). This fusion gene arises from a chromosomal translocation, typically the t(6;9)(p23;q34) translocation
• The DEK-NUP214 fusion gene produces an abnormal protein with oncogenic properties, contributing to the development and progression of leukemia. The exact mechanisms this fusion protein promotes leukemogenesis are not fully understood. Still, it is believed to disrupt normal cellular functions and regulatory pathways involved in hematopoiesis, leading to the uncontrolled proliferation of immature myeloid cells
• Patients with AML harboring the DEK-NUP214 fusion often present with features typical of AML, including bone marrow failure, cytopenias, and leukemic cell infiltration into various organs. However, this specific genetic abnormality may affect disease prognosis and treatment strategies
• Historically, AML with DEK-NUP214 Fusion has been associated with poor outcomes, including high rates of relapse and resistance to conventional chemotherapy regimens. However, advancements in molecular diagnostics and targeted therapies have led to the development of novel treatment approaches for this subset of patients
• The management of Acute Myeloid Leukemia with DEK-NUP214 Fusion may involve intensive chemotherapy, targeted therapies, and potentially stem cell transplantation in eligible patients. Targeted agents that specifically inhibit the activity of the DEK-NUP214 fusion protein or disrupt the downstream signaling pathways involved in leukemogenesis are being investigated as potential therapeutic options
• Close monitoring of treatment response, minimal residual disease (MRD), and relapse risk is essential for guiding therapeutic decisions and optimizing outcomes in patients with acute myeloid leukemia harboring the DEK-NUP214 fusion

Who gets Acute Myeloid Leukemia with DEK::NUP214 Fusion? (Age and Sex Distribution)

• Acute Myeloid Leukemia (AML) with DEK::NUP214 Fusion can occur in both children and adults, but it is more commonly diagnosed in adults
• The median age of diagnosis for this subtype of AML is around 30-50 years old
• In children, DEK::NUP214 Fusion AML is extremely rare, accounting for a small percentage of pediatric AML cases
• It affects both males and females, with no significant difference in incidence between the genders
• Worldwide, individuals across all racial and ethnic groups are prone to this malignancy

What are the Risk Factors for Acute Myeloid Leukemia with DEK::NUP214 Fusion? (Predisposing Factors)

There are no specific risk factors for Acute Myeloid Leukemia (AML) with DEK::NUP214 Fusion. However, some general risk factors for developing AML include:

• Exposure to certain chemicals such as benzene and chemotherapy drugs
• Previous treatment with radiation therapy
• Genetic disorders such as Down syndrome and Fanconi anemia
• Smoking and exposure to tobacco smoke
• Certain blood disorders like myelodysplastic syndromes (MDS)

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 DEK::NUP214 Fusion? (Etiology)

Acute Myeloid Leukemia (AML) with DEK::NUP214 Fusion is caused by a specific genetic abnormality known as the DEK::NUP214 fusion gene.

• The fusion occurs when a piece of chromosome 6, containing the DEK gene, fuses with a piece of chromosome 9, containing the NUP214 gene, forming a hybrid gene
• This genetic fusion is believed to disrupt normal cellular processes, leading to the uncontrolled growth and proliferation of immature myeloid cells, characteristic of AML
• The exact cause of the DEK::NUP214 fusion is not fully understood, but it is thought to arise spontaneously in most cases rather than being inherited or triggered by external factors

Other genetic mutations or alterations may also contribute to the development and progression of Acute Myeloid Leukemia with DEK::NUP214 Fusion, but the fusion gene is a key driver of the disease.

What are the Signs and Symptoms of Acute Myeloid Leukemia with DEK::NUP214 Fusion?

The signs and symptoms of Acute Myeloid Leukemia (AML) with DEK::NUP214 Fusion are similar to those of other types of AML and may include:

• Fatigue and weakness: Individuals often experience extreme tiredness and weakness that does not improve with rest
• Fever and infections: Frequent infections due to a weakened immune system are common, leading to persistent fevers
• Easy bruising and bleeding: Abnormalities in blood clotting can result in easy bruising, bleeding gums, or frequent nosebleeds
• Shortness of breath: Decreased red blood cells (anemia) can lead to shortness of breath and pale skin
• Bone pain: Aching or tenderness in the bones, especially in the hips and sternum, may occur
• Enlarged lymph nodes, liver, or spleen: Swollen lymph nodes, liver, or spleen can be palpated during a physical exam
• Unexplained weight loss: Patients may experience significant and unexplained weight loss
• Easy fatigability: Once manageable, activities may become exhausting due to the disease's impact on energy levels
• Petechiae: Tiny red spots under the skin called petechiae may appear, indicating low platelet counts

Other signs and symptoms may include night sweats, frequent infections, and general malaise.

How is Acute Myeloid Leukemia with DEK::NUP214 Fusion Diagnosed?

Diagnosing Acute Myeloid Leukemia (AML) with DEK::NUP214 Fusion involves several steps and tests to confirm the presence of the disease and identify specific genetic abnormalities. The diagnostic process typically includes:

• Medical history and physical examination: The healthcare provider reviews the individual’s medical history, including symptoms and previous health conditions. A physical exam may also be conducted to assess for signs of leukemia, such as enlarged lymph nodes or spleen
• Blood tests are essential for diagnosing AML. These may include:
  • Complete blood count (CBC) test to determine the levels of red blood cells, white blood cells, and platelets
  • Peripheral blood smear to examine the appearance of blood cells under a microscope for abnormalities
  • Blood chemistry tests to evaluate organ function and detect abnormalities in electrolytes, liver enzymes, and kidney function
• Imaging studies: In some cases, imaging studies like X-rays, CT scans, or MRI scans may be performed to evaluate the extent of disease involvement and assess for any complications, such as infections or organ enlargement
• Bone marrow aspiration and biopsy: A bone marrow aspiration and biopsy are crucial for confirming the diagnosis of AML. During these procedures, a sample of bone marrow and a small piece of bone is collected and examined for the presence of leukemia cells and specific genetic abnormalities, including the DEK::NUP214 fusion gene
• Cytogenetic analysis: Cytogenetic testing is performed on the bone marrow sample to analyze the chromosomes and identify any genetic mutations or abnormalities, such as the DEK::NUP214 fusion gene
• Molecular testing: Molecular tests, such as polymerase chain reaction (PCR), may detect specific genetic changes, including the DEK::NUP214 fusion gene and other mutations associated with AML
• Flow cytometry: Flow cytometry is a technique used to analyze the characteristics of leukemia cells, including their surface markers and other features, helping to classify the subtype of AML

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 DEK::NUP214 Fusion?

Acute Myeloid Leukemia (AML) with DEK::NUP214 Fusion can lead to various complications due to the aggressive nature of the disease and its impact on normal blood cell production and organ function. Some possible complications include:

• Infections: Weakened immune function can make patients more susceptible to infections, which can be severe and life-threatening
• Bleeding and clotting problems: Low platelet count and abnormal clotting factors can result in easy bruising, bleeding gums, nosebleeds, and an increased risk of blood clots
• Anemia: Decreased red blood cell production can lead to anemia, causing fatigue, weakness, shortness of breath, and pale skin
• Organ dysfunction: AML can affect the function of organs such as the liver, spleen, and kidneys, leading to complications like liver failure, splenic rupture, and kidney damage
• Tumor lysis syndrome: Rapid breakdown of leukemia cells can release large amounts of toxins into the bloodstream, causing metabolic imbalances and organ dysfunction
• Bone marrow failure: Extensive infiltration of leukemia cells into the bone marrow can impair its ability to produce normal blood cells, leading to bone marrow failure and pancytopenia (low counts of red cells, white cells, and platelets)
• Neurological complications: Rarely, AML can spread to the central nervous system, causing neurological symptoms such as headaches, seizures, and cognitive changes.
• Secondary cancers: Some treatments for AML, such as chemotherapy and radiation therapy, can increase the risk of developing secondary cancers later in life
• Psychosocial effects: Coping with the diagnosis and treatment of AML can cause significant emotional and psychological distress for patients and their families, leading to anxiety, depression, and other mental health issues

How is Acute Myeloid Leukemia with DEK::NUP214 Fusion Treated?

Managing Acute Myeloid Leukemia (AML) with DEK::NUP214 Fusion often requires a multidisciplinary team approach involving hematologists, oncologists, pathologists, genetic counselors, nurses, and supportive care specialists. Collaborative care ensures comprehensive evaluation, personalized treatment plans, and coordinated supportive services for optimal patient outcomes.

The treatment approach for Acute Myeloid Leukemia with DEK::NUP214 Fusion typically involves a combination of chemotherapy, targeted therapy, and stem cell transplantation. The specific treatment plan may vary based on factors such as the patient's age, overall health, genetic profile, and response to initial therapy.

• Chemotherapy:
  • Induction therapy: High-dose chemotherapy achieves remission by killing leukemia cells in the bone marrow and peripheral blood
  • Consolidation therapy: Additional cycles of chemotherapy may be given to eliminate any remaining leukemia cells and reduce the risk of relapse
  • Salvage therapy: If remission is not achieved with standard chemotherapy, more intensive salvage regimens may target resistant leukemia cells
• Targeted therapy using tyrosine kinase inhibitors (TKIs): Drugs like midostaurin or gilteritinib may be used to target specific genetic mutations, including FLT3 mutations commonly found in AML, including DEK::NUP214 Fusion AML
• Other targeted agents: Depending on the genetic profile of the leukemia cells, other targeted therapies may be considered to inhibit abnormal signaling pathways and promote cell death.
• Stem cell transplantation (SCT):
  • Allogeneic stem cell transplant: This procedure involves replacing the patient's diseased bone marrow with healthy stem cells from a compatible donor (usually a sibling or unrelated matched donor). It aims to eradicate leukemia cells and restore normal blood cell production
  • Autologous stem cell transplant: In some cases, patients may undergo autologous stem cell transplantation, where their own previously collected stem cells are used after high-dose chemotherapy to rebuild the bone marrow
• Supportive care:
  • Blood transfusions: Red blood cell and platelet transfusions may be needed to manage anemia and bleeding tendencies
  • Antibiotics and antifungals: Prophylactic or therapeutic use of antimicrobial agents to prevent or treat infections
  • Growth factors: Administration of growth factors such as G-CSF (granulocyte colony-stimulating factor) to stimulate white blood cell production after chemotherapy
• Supportive therapies: Pain management, nutritional support, and psychosocial care to address patients' physical and emotional needs
• Clinical trials: Eligible patients may be able to participate in clinical trials evaluating novel therapies or treatment combinations, which would allow them to access innovative treatments and contribute to medical research

How can Acute Myeloid Leukemia with DEK::NUP214 Fusion be Prevented?

No specific measures or strategies are known to prevent Acute Myeloid Leukemia (AML) with DEK::NUP214 Fusion and other subtypes of AML. However, some general lifestyle practices and precautions may help reduce the risk of developing leukemia and other blood-related cancers. These include:

• Avoiding exposure to carcinogens:
  • Minimize exposure to known carcinogens such as benzene, radiation, and certain chemicals used in manufacturing and agriculture
  • Follow safety guidelines and protocols when working with potentially hazardous substances
• Maintaining a healthy lifestyle:
  • Eat a balanced diet of fruits, vegetables, whole grains, and lean proteins to support overall health and immune function
  • Engage in regular exercise to maintain a healthy weight and promote cardiovascular fitness
  • Avoid smoking and limit alcohol consumption, as these habits are associated with an increased risk of various cancers, including leukemia
• Protective measures for genetic disorders: For individuals with known genetic disorders associated with an increased risk of AML, such as Down syndrome or Fanconi anemia, regular medical monitoring and early intervention may help detect and manage potential complications
• Occupational and environmental safety:
  • Follow safety guidelines and protocols in occupational settings where exposure to chemicals, radiation, or other potential carcinogens may occur
  • Be aware of environmental factors, such as pollution, and minimize exposure whenever possible
• Regular health check-ups and screenings:
  • Maintain regular visits with healthcare providers for routine check-ups and screenings to detect any health issues early and address them promptly
  • Follow recommended screening guidelines for conditions that may increase the risk of developing leukemia, such as myelodysplastic syndromes (MDS) or chronic myelomonocytic leukemia (CMML)
• Genetic counseling and testing: Individuals with a family history of AML or other blood cancers may benefit from genetic counseling and testing to assess their risk and explore preventive measures or early detection strategies

What is the Prognosis of Acute Myeloid Leukemia with DEK::NUP214 Fusion? (Outcomes/Resolutions)

The prognosis of Acute Myeloid Leukemia (AML) with DEK::NUP214 Fusion can vary widely depending on several factors, including the patient's age, overall health, genetic profile, response to treatment, and the presence of additional genetic mutations or abnormalities. Some of the prognostic factors involved include:

Overall survival rates:

•  Acute Myeloid Leukemia with DEK::NUP214 Fusion is generally associated with a poorer prognosis compared to other subtypes of AML
• The 5-year survival rate for DEK::NUP214 Fusion AML is typically lower than that of other AML subtypes, with varying rates based on specific genetic and clinical features

Response to treatment:

• The response to initial induction chemotherapy is a significant predictor of prognosis
• Patients who achieve complete remission (no detectable leukemia cells in the bone marrow) after induction therapy have a better prognosis than those without remission or persistent disease

Genetic factors:

• The presence of additional genetic mutations or abnormalities, such as FLT3 mutations or adverse cytogenetics, can influence prognosis and treatment outcomes
• Certain genetic mutations may confer resistance to standard therapies or increase the risk of relapse, leading to a more guarded prognosis

Stem cell transplantation (SCT):

• Allogeneic stem cell transplantation can improve outcomes for some patients with DEK::NUP214 Fusion AML, particularly those who achieve remission and have suitable donor matches
• SCT offers the potential for long-term disease control and cure but also carries risks of complications and treatment-related mortality

Relapse rates: Relapse rates for DEK::NUP214 Fusion AML are higher than those of other AML subtypes, highlighting the need for close monitoring and potential consideration of maintenance or consolidation therapies after initial treatment.

Novel therapies and clinical trials:

• Ongoing research into targeted therapies, immunotherapies, and novel treatment approaches may offer new options for patients with DEK::NUP214 Fusion AML
• Participation in clinical trials evaluating innovative treatments can provide access to promising therapies and contribute to improving outcomes for this challenging subtype of AML

Individualized prognosis:

• Patients with DEK::NUP214 Fusion AML must work closely with their healthcare team to understand their prognosis, discuss treatment options, and make informed decisions about their care plan
• Regular follow-up visits and monitoring are crucial for assessing treatment response, detecting relapse early, and managing any complications that may arise

Additional and Relevant Useful Information for Acute Myeloid Leukemia with DEK::NUP214 Fusion:

Emerging therapies and precision medicine:

• Advances in precision medicine, including molecular profiling, targeted therapies, and immunotherapies, hold promise for improving outcomes in Acute Myeloid Leukemia with DEK::NUP214 Fusion
• Targeted agents directed against specific genetic mutations or dysregulated pathways are being investigated in clinical trials and may offer more effective and less toxic treatment options

Psychosocial support for patients and caregivers:

• Coping with AML with DEK::NUP214 Fusion can be emotionally challenging for patients and their families
• Access to psychosocial support services, counseling, educational resources, and peer support groups can help address emotional distress, enhance coping skills, and improve overall well-being throughout the treatment journey

Importance of adherence to treatment plans:

• Adherence to prescribed treatment regimens, including chemotherapy schedules, supportive medications, and follow-up appointments, is crucial for optimizing treatment outcomes and long-term survival in AML with DEK::NUP214 Fusion
• Patients are encouraged to communicate openly with their healthcare team, report any treatment-related side effects promptly, and actively participate in shared decision-making regarding their care