Acute myeloid leukemia with NPM1 somatic mutations
Synonyms: AML with NPM1 somatic mutations
A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by leukocytosis thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue bleeding and bruising recurrent infections bone pain) with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. The disease is characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow blood and other tissues. It is associated with multilineage dysplasia involving the myeloid monocytic erythroid and megakaryocytic cell lineages.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Acute myeloid leukemia with NPM1 somatic mutations?
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