Acute basophilic leukemia
- Type
- Disease
- Group
- Disorder
- Age of onset
- All ages
- Status
- active
A rare acute myeloid leukemia characterized by primary differentiation to basophils. Microscopically, peripheral blood and bone marrow blasts contain coarse cytoplasmic basophilic granules which are positive with metachromatic staining (toluidine blue). Electron microscopy confirms that granules show features characteristic of basophil precursors. Mature basophils are usually sparse. Patients may present with manifestations related to bone marrow failure, as well as hepatosplenomegaly, cutaneous involvement, lytic lesions, and hyperhistaminemia. The disease is associated with a poor prognosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute basophilic leukemia | |
| fr | Leucémie aiguë à basophiles | |
| de | Leukämie, akute basophile | |
| es | Leucemia basofílica aguda | |
| it | Leucemia basofila acuta | |
| nl | Acute basofiele leukemie | |
| pt | Leucemia basofílica aguda | |
| pl | Ostra białaczka bazofilowa | |
| cs | Akutní bazofilní leukémie | |
| uk | Гострий базофільний лейкоз | |
| zh | 急性嗜碱粒细胞白血病 | |
| tr | Akut bazofilik lösemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C94.7 | NTBT | attributed | validated |
| ICD-11 | 2A60.37 | E | specific | validated |
| MONDO | 0019458 | E | validated | |
| MeSH | D015471 | E | validated | |
| UMLS | C0023437 | 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:167714Unclassified acute myeloid leukemia
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 |
|---|---|---|---|---|---|---|---|---|
| GATA1 | Part of a fusion gene in | Assessed | HGNC:4170 | ENSG00000102145 | 305371 | Xp11.23 | GATA binding protein 1 | 21474671[PMID] |
| MYB | Part of a fusion gene in | Assessed | HGNC:7545 | ENSG00000118513 | 189990 | 6q23.3 | MYB proto-oncogene, transcription factor | 21474671[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | — | Europe | Class only | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86849
- This record as JSON: /data/d/86849.json