Acute megakaryoblastic leukemia
Synonyms: AMKL · AML M7 · Acute megakaryocytic leukemia · Acute myeloid leukemia M7
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Childhood
- Status
- active
A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute megakaryoblastic leukemia | AMKL · AML M7 · Acute megakaryocytic leukemia · Acute myeloid leukemia M7 |
| fr | Leucémie aiguë mégacaryoblastique | AMKL · AML M7 · LAM M7 · Leucémie aiguë myéloblastique type 7 · Leucémie aigüe mégacaryocytaire |
| de | Akute Megakaryoblastenleukämie | AMKL · Leukämie, akute myeloische, Typ 7 |
| es | Leucemia megacarioblástica aguda | AMKL · Leucemia mieloblástica aguda tipo 7 |
| it | Leucemia megacarioblastica acuta | AMKL · Leucemia mieloblastica acuta, tipo 7 |
| nl | Acute megakaryoblastische leukemie | AMKL · AML M7 · Acute megakaryocytaire leukemie · Acute myeloïde leukemie M7 |
| pt | Leucemia megacarioblástica aguda | Leucemia mieloblástica aguda tipo 7 |
| pl | Ostra białaczka megakarioblastyczna | AMKL · Ostra białaczka mieloblastyczna typu 7 |
| cs | Akutní megakaryoblastická leukémie | AMKL · AML M7 · Akutní megakaryocytární leukémie · Akutní myeloidní leukémie M7 |
| uk | Гострий мегакаріобластний лейкоз | Гострий мегакаріоцитарний лейкоз · Гостра мієлоїдна лейкемія M7 · AMKL · AML M7 |
| zh | 急性巨核细胞白血病 | 急性巨核细胞白血病 |
| tr | Akut megakaryoblastik lösemi | AMKL · AML M7 · Akut miyeloid lösemi M7 · Akut megakaryositik lösemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C94.2 | NTBT | attributed | validated |
| ICD-11 | 2A60.36 | E | specific | validated |
| ICD-11 | XH4750 | E | specific | validated |
| MONDO | 0018872 | E | validated | |
| MeSH | D007947 | E | validated | |
| UMLS | C0023462 | E | validated | |
| GARD | 524 | E | validated | |
| MedDRA | 10000860 | 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
Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| GATA1 | ORPHA:99887Acute megakaryoblastic leukemia in children with Down syndrome | Disease-causing somatic mutation(s) in | Assessed | HGNC:4170 | ENSG00000102145 | 305371 | Xp11.23 | GATA binding protein 1 | 14636651[PMID] |
| CBFA2T3 | ORPHA:329469Acute megakaryoblastic leukemia in children without Down syndrome | Part of a fusion gene in | Assessed | HGNC:1537 | ENSG00000129993 | 603870 | 16q24.3 | CBFA2/RUNX1 partner transcriptional co-repressor 3 | 23153540[PMID] |
| GLIS2 | ORPHA:329469Acute megakaryoblastic leukemia in children without Down syndrome | Part of a fusion gene in | Assessed | HGNC:29450 | ENSG00000126603 | 608539 | 16p13.3 | GLIS family zinc finger 2 | 23153540[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| 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/518
- This record as JSON: /data/d/518.json