Acute mast cell leukemia
Synonyms: Acute MCL
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Status
- active
A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute mast cell leukemia | Acute MCL |
| fr | Leucémie aiguë à mastocytes | LM aiguë |
| de | Mastzell-Leukämie, akute | Akute MCL |
| es | Leucemia mastocitaria aguda | |
| it | Leucemia mastocitaria acuta | MCL acuta |
| nl | Acute mestcelleukemie | = en |
| pt | Leucemia aguda de mastócitos | |
| pl | Ostra białaczka mastocytowa | = en |
| cs | Akutní mastocytární leukémie | = en |
| uk | Гостра тучноклітинна лейкемія | Гостра MCL |
| zh | 急性肥大细胞白血病 | = en |
| tr | Akut mast hücreli lösemi | Akut MCL |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C94.3 | NTBT | attributed | validated |
| ICD-11 | 2A21.00 | NTBT | attributed | validated |
| MONDO | 0035444 | E | validated | |
| UMLS | C5680128 | 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:98851Mast cell leukemia
rare hematological diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIT | Disease-causing germline mutation(s) in | Assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase | 25729733[PMID]_22324351[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/566393
- This record as JSON: /data/d/566393.json