Acute myeloblastic leukemia with maturation
Synonyms: AML M2 · Acute myeloblastic leukemia M2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater than or equal to 10% and monocytic cells less than or equal to 20% of the bone marrow cells. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute myeloblastic leukemia with maturation | AML M2 · Acute myeloblastic leukemia M2 |
| fr | Leucémie myéloblastique aiguë avec maturation | LAM M2 · Leucémie myéloblastique aiguë type 2 |
| de | Leukämie, akute myeloische, mit Ausreifung | AML M2 · Akute myeloische Leukämie M2 · LAM M2 |
| es | Leucemia mieloblástica aguda con maduración | AML M2 · LAM M2 · LMA M2 · Leucemia mieloblástica aguda M2 · Leucemia mielobástica aguda M2 |
| it | Leucemia mieloblastica acuta con maturazione | AML M2 · Leucemia mieloblastica acuta M2 |
| nl | Acute myeloblastische leukemie met maturatie | AML M2 · Acute myeloblastische leukemie M2 |
| pt | Leucemia mieloblástica, aguda, com maturação | |
| pl | Ostra białaczka mieloblastyczna z cechami dojrzewania | AML M2 · LAM M2 · Ostra białaczka mieloblastyczna M2 |
| cs | Akutní myeloblastická leukémie s vyzráváním | AML M2 · Akutní myeloblastická leukémie M2 |
| uk | Гострий мієлобластний лейкоз із дозріванням | Гострий мієлобластний лейкоз М2 · ГМЛ M2 |
| zh | 急性粒细胞白血病部分分化型 | M1型急性髓性白血病 |
| tr | Olgunlaşan akut miyeloblastik lösemi | AML M2 · Akut miyeloblastik lösemi M2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C92.0 | NTBT | inclusion | validated |
| ICD-11 | 2A60.32 | NTBT | index | validated |
| MONDO | 0020320 | E | validated | |
| UMLS | C1879321 | E | validated | |
| GARD | 527 | 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
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLT3 | Disease-causing somatic mutation(s) in | Assessed | HGNC:3765 | ENSG00000122025 | 136351 | 13q12.2 | fms related receptor tyrosine kinase 3 | 22338050[PMID] |
| KIT | Disease-causing somatic mutation(s) in | Not yet assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase | 22338050[PMID]_20425418[PMID] |
| NPM1 | Disease-causing somatic mutation(s) in | Not yet assessed | HGNC:7910 | ENSG00000181163 | 164040 | 5q35.1 | nucleophosmin 1 | 22338050[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.02 / 100 000 | Europe | Value and class | 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/98834
- This record as JSON: /data/d/98834.json