Acute megakaryoblastic leukaemia (AMKL) is a rare form of acute myeloid leukaemia (AML). It is caused by a genetic mutation that results in the overproduction of immature megakaryoblasts in the bone marrow, which inhibits the production of normal blood cells. It is most commonly seen in children under the age of 5 and is associated with a variety of genetic abnormalities, including Down syndrome, Klinefelter syndrome and certain chromosomal abnormalities.
The diagnosis of AMKL is based on a bone marrow biopsy, which is used to evaluate the presence of megakaryoblasts. Blood tests are also used to evaluate the levels of white blood cells, platelets and red blood cells. Ancillary tests such as cytogenetics, fluorescence in situ hybridization (FISH) and molecular genetic tests may also be used to identify the specific genetic abnormality associated with the disease.
AMKL must be distinguished from other forms of acute myeloid leukaemia, such as acute promyelocytic leukaemia (APL) and acute myelomonocytic leukaemia (AMML). It must also be differentiated from other causes of thrombocytopenia, such as idiopathic thrombocytopenic purpura (ITP).
Treatment of AMKL may involve chemotherapy, stem cell transplantation, or a combination of both. The goal of treatment is to achieve remission, in which the abnormal cells are eliminated and normal blood cell production is restored. The prognosis of AMKL is generally poor; however, early diagnosis and aggressive treatment can lead to improved outcomes.
The prognosis of AMKL is generally poor, with a 5-year survival rate of less than 25%. However, with early diagnosis and aggressive treatment, some patients can achieve long-term survival.