What is Acute Megakaryoblastic Leukemia?
Acute megakaryoblastic leukemia (AMKL) is life-threatening cancer, with abnormally proliferating malignant megakaryoblasts, which damages multiple tissues. A megakaryoblast is a precursor cell to a promegakaryocyte, which during the process of blood formation in the bone marrow, transforms into a megakaryocyte (immature/ancestor cell responsible for the production of platelets). It is the start of the platelet series, which is important for normal blood clotting.
Acute Megakaryoblastic Leukemia accounts for 3-5% of AMLs. The incidence rate (probability of development of diseases) is higher among the children (age of 3-5 years) and adults (median age 57 years). Among the adult cases, 59% have a previous history of myelodysplastic syndrome. A large proportion of children who are affected have Down syndrome. The incidence rate of AMKL is 46 times higher among children with Down syndrome.
Causes of Acute Megakaryoblastic Leukemia
There is no known cause of AMKL. The strong correlation of Down syndrome with AMKL has established the probability that the development of this leukaemia could involve overexpression or mutation (changes in the structure of the gene) of certain hematopoietic regulatory genes on chromosome 21. Acute megakaryoblastic leukaemia categorized into three distinct classes that vary in underlying causes, presentation age, therapy responses, and prognoses. These are AMKL that appears in young children with Down syndrome (DS-AMKL; AMKL), in children without Down syndrome (Non-DS-AMKL) also known as pediatric acute megakaryoblastic leukaemia or pediatric AMKL and AMKL in adults.
Below are some of the most common risk factors:
Age – AKML is extremely rare in adults. However, risk increases in people over the age of 60 years. AKML occurs predominantly in childhood.
Downs syndrome – People with down syndrome have proven to be at a higher risk of suffering from AKML.
Myelodysplastic syndrome – Myelodysplastic syndrome is a disorder relating to poorly formed blood cells. People who have the disorder are more likely to be diagnosed with AKML.
Signs and Symptoms of Acute Megakaryoblastic Leukemia
- Symptoms associated with anaemia like fatigue, pallor (an unhealthy pale appearance of the skin), shortness of breath on exertion.
- Liver and spleen enlargement
- Germ cell tumors in young boys
- Leukemic cutis (cutaneous lesions due to the accumulation of white blood cells or precursor cells into the skin).
- Leukostasis (symptomatic hyperleukocytosis, White blood cells count ranges from30, 000-100,000 /μl).Leukostasis presents itself with the symptoms of difficulty in breathing, headache, dizziness, visual disturbance, confusion and comma. Circulating megacaryoblsts in peripheral circulation can cause Microcirculation blockage which leads to heart, lungs, and nervous system failure.
Diagnosis of Acute Megakaryoblastic Leukemia
Following diagnostic tests can be used to make a diagnosis.
- Complete blood count (CBC) with peripheral smear – A complete blood count (CBC) is a blood test used to evaluate your overall health. It is effective because it can detect a wide range of disorders, including leukaemia.
- Blood coagulation profile – A blood coagulation profile is a screening test which detects abnormal blood clotting. Irregularities may help with diagnosing types of leukaemia such as AML.
- Bone marrow aspiration and cytology – During a bone marrow aspiration, a small sample (biopsy) of bone marrow is extracted from your bones. It is then examined and tested in a lab to detect irregularities. This test allows doctors to detect leukaemia in the bone marrow.
- Immunophenotyping Analysis of megakaryoblast or myeloid precursor cells through flow cytometry or immunohistochemistry.
Treatment Options for Acute Megakaryoblastic Leukemia
The type of treatment used for Acute Megakaryoblastic Leukemia varies depending on its stage, severity and behaviour.
Chemotherapy is the use of drugs to target and destroy cancer cells. It is effective against AKML because it stops cancer cells from dividing and spreading. Due to the stress chemotherapy may have on the body, it is often split up into several “session”. During a session the drugs will be administered either orally or intravenously. Chemotherapy is known to cause side effects. These include:
- Nausea and vomiting
- Loss of appetite
- Loss of hair
- Fatigue and tiredness
- Increased risk of infection.
Hematopoietic stem cell transplantation
Hematopoietic stem cell transplantation (HSCT) is the transplantation of stem cells, usually derived from bone marrow. The objective is to replace the cancer cells with stem cells, which grow into healthy cells over time. In order for the treatment to be effective, the immune system must be weakened first. This can lead to complications following the treatment. Patients will be at a much higher risk of severe sickness and infection.
What support can we give for Acute Megakaryoblastic Leukemia?
Acute Megakaryoblastic Leukemia is a rare cancer, meaning it is not as well known as other forms of cancer. Without a Ribbon is an Australian organisation that provides support for individuals who suffer from rare cancers. We provide a designated platform for Warriors to obtain information specific to their Rare Cancer. We also provide annual opportunities for our Warriors to meet and learn from each other. If you suffer from a rare cancer such as Acute Megakaryoblastic Leukemia, we can help and support you through your journey thanks to the generous donations we receive. Click the link below to sign up and become a Warrior today!
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Without a Ribbon is a charity that works hard to aid those who suffer from rare cancers. You can help our cause in a variety of ways:
Donations — Without a Ribbon is grateful when we receive every donation. Giving to Without a Ribbon helps us to provide ongoing support, organise the annual gathering and subsidise the costs of our Warriors attending these conferences.
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