Chronic eosinophilic leukemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chronic eosinophilic leukemia | |
| fr | Leucémie chronique éosinophile | |
| de | Leukämie, chronische eosinophile | |
| es | Leucemia eosinofílica crónica | |
| it | Leucemia eosinofila cronica | |
| nl | Chronische eosinofiele leukemie | |
| pt | Leucemia eosinofílica crónica | |
| pl | Przewlekła białaczka eozynofilowa | |
| cs | Chronická eozinofilní leukémie | |
| uk | Хронічний еозинофільний лейкоз | |
| zh | 慢性嗜酸性白血病 | |
| tr | Kronik eozinofilik lösemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D47.5 | E | specific | validated |
| ICD-11 | 2A20.3 | E | specific | validated |
| MONDO | 0015687 | E | validated | |
| UMLS | C0346421 | E | validated | |
| MedDRA | 10065854 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98274Myeloproliferative neoplasm
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FIP1L1 | Part of a fusion gene in | Assessed | HGNC:19124 | ENSG00000145216 | 607686 | 4q12 | factor interacting with PAPOLA and CPSF1 | 24764730[PMID]_22523564[PMID]_17988989[PMID]_16502585[PMID] |
| PDGFRA | Part of a fusion gene in | Assessed | HGNC:8803 | ENSG00000134853 | 173490 | 4q12 | platelet derived growth factor receptor alpha | 24764730[PMID]_22523564[PMID]_17988989[PMID]_16502585[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168940
- This record as JSON: /data/d/168940.json