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acute myeloid leukemia with NPM1 somatic mutations

^ http://purl.obolibrary.org/obo/MONDO_0018437


Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities 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. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. [ Orphanet:402026 ]

Term info

database cross reference
  • SCTID:763309005 (MONDO:equivalentTo)
  • Orphanet:402026 (MONDO:equivalentTo)
Subsets

ordo_disease

definition

Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities 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. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy.

exactMatch

http://identifiers.org/snomedct/763309005, http://purl.obolibrary.org/obo/Orphanet_402026

has exact synonym

AML with NPM1 somatic mutations

id

MONDO:0018437

Term relations

Subclass of: