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Leukemia, megacaryoblastic, acute

Orpha number ORPHA518
Prevalence of rare diseases -
Inheritance -
Age of onset Variable
ICD 10 code
  • C94.2
MIM number -
Synonym(s) Acute myeloblastic leukemia, type 7

Summary

Acute myeloblastic leukemia (AML) (see this term) is a group of malignant bone marrow neoplasms of myeloid precursors of white blood cells. Acute megakaryoblastic leukemia (AML-M7) is a rare type of pediatric AML. It represents approximately 1% of all leukemias during childhood and has an incidence of 0.5 per million per year. In young children with Down syndrome (see this term), AML-M7 is the most common type of AML. The symptoms may be non-specific: asthenia, pallor, fever, dizziness and respiratory symptoms. More specific symptoms are bruises and/or (excessive) bleeding, coagulation disorders (DIC), neurological disorders and gingival hyperplasia. Diagnostic methods include blood analysis, bone marrow aspirate for cytochemical, immunological and cytogenetical analysis, and cerebrospinal fluid (CSF) investigations. Treatment includes intensive multidrug chemotherapy and allogeneic bone marrow transplantation. Nevertheless, outcome of AML remains poor with an overall survival of 35-60%. Patients with AML-M7 have a dismal prognosis, which is not the case for children with Down syndrome suffering from AML. New therapeutics are required to increase the probability of cure in this serious disorder. *Author: Dr A. C. Verschuur (May 2004)*.

Detailed information

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