Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Chronic eosinophilic leukemia
Synonyms
Definitions

A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors with persistent increase of eosinophils in peripheral blood and bone marrow, accompanied by increased blasts (<20%) or clonal cytogenetic or molecular genetic abnormalities. Cases with BCR-ABL1, PCM1-JAK2, ETV6-JAK2, or BCR-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1, are not included in this entity. Infiltration of the liver and spleen, as well as a variety of other organs, is typical. Patients may present with constitutional symptoms and signs and symptoms of organ involvement, such as endomyocardial fibrosis, peripheral neuropathy, central nervous system manifestations, respiratory symptoms, or rheumatological findings. Acute transformation is common.

ID

http://www.orpha.net/ORDO/Orphanet_168940

definition

A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors with persistent increase of eosinophils in peripheral blood and bone marrow, accompanied by increased blasts (<20%) or clonal cytogenetic or molecular genetic abnormalities. Cases with BCR-ABL1, PCM1-JAK2, ETV6-JAK2, or BCR-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1, are not included in this entity. Infiltration of the liver and spleen, as well as a variety of other organs, is typical. Patients may present with constitutional symptoms and signs and symptoms of organ involvement, such as endomyocardial fibrosis, peripheral neuropathy, central nervous system manifestations, respiratory symptoms, or rheumatological findings. Acute transformation is common.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=168940

hasDbXref

ICD-11:2A20.3

MedDRA:10065854

ICD-10:D47.5

UMLS:C0346421

label

Chronic eosinophilic leukemia

notation

ORPHA:168940

part_of

http://www.orpha.net/ORDO/Orphanet_98274

prefixIRI

ORDO:Orphanet_168940

prefLabel

Chronic eosinophilic leukemia

treeView

http://www.orpha.net/ORDO/Orphanet_98274

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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