Atypical chronic myeloid leukemia
Synonyms: Subacute myeloid leukemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare myelodysplastic/myeloproliferative neoplasm characterized by peripheral blood leukocytosis due to increased numbers of morphologically dysplastic neutrophils and their precursors, hypercellular bone marrow with granulocytic proliferation and dysplasia (with or without dysplasia in the erythroid and megakaryocytic lineages), and prominent dysgranulopoiesis, but no or minimal absolute basophilia or monocytosis. Blasts account for less than 20% of leukocytes in the blood and bone marrow. BCR-ABL1 fusion is absent, as well as PDGFRA, PDGFRB or FGFR1 rearrangement, or PCM1-JAK2. Patients may present with signs and symptoms related to splenomegaly, anemia, or thrombocytopenia. Prognosis is generally poor.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atypical chronic myeloid leukemia | Subacute myeloid leukemia |
| fr | Leucémie myéloïde chronique atypique | Leucémie myéloïde subaiguë |
| de | Leukämie, chronische myeloische, atypische | |
| es | Leucemia mieloide crónica atípica | |
| it | Leucemia mieloide cronica atipica | |
| nl | Atypische chronische myeloïde leukemie | Subacute myeloïde leukemie |
| pt | Leucemia, atípica, mielóide, crónica | |
| pl | Atypowa przewlekła białaczka szpikowa | Podostra białaczka szpikowa |
| cs | Atypická chronická myeloidní leukémie | Subakutní myeloidní leukémie |
| uk | Атипова хронічна мієлоїдна лейкемія | Підгострий мієлоїдний лейкоз |
| zh | 非典型慢性髓样白血病 | 亚急性髓样白血病 |
| tr | Atipik kronik miyeloid lösemi | Subakut miyeloid lösemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C92.2 | E | specific | validated |
| ICD-11 | 2A41 | E | specific | validated |
| MONDO | 0004653 | E | validated | |
| MeSH | D054438 | E | validated | |
| UMLS | C1292772 | E | validated | |
| MedDRA | 10054651 | 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:98275Myelodysplastic/myeloproliferative disease
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CSF3R | Disease-causing somatic mutation(s) in | Assessed | HGNC:2439 | ENSG00000119535 | 138971 | 1p34.3 | colony stimulating factor 3 receptor | 23656643[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/98824
- This record as JSON: /data/d/98824.json