Chronic mast cell leukemia
Synonyms: Chronic MCL
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Status
- active
A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chronic mast cell leukemia | Chronic MCL |
| fr | Leucémie chronique à mastocytes | LM chronique |
| de | Mastzell-Leukämie, chronische | Chronische MCL |
| es | Leucemia mastocitaria crónica | |
| it | Leucemia mastocitaria cronica | MCL cronica |
| nl | Chronische mestcelleukemie | Chronische MCL |
| pt | Leucemia crónica de mastócitos | |
| pl | Przewlekła białaczka mastocytowa | = en |
| cs | Chronická mastocytární leukémie | = en |
| uk | Хронічна тучноклітинна лейкемія | Хронічна MCL |
| zh | 慢性肥大细胞白血病 | = en |
| tr | Kronik mast hücreli lösemi | Kronik 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 | 0035445 | E | validated | |
| UMLS | C5680130 | 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/566396
- This record as JSON: /data/d/566396.json