Acute myeloid leukaemia with myelodysplasia-related features
Synonyms: AML with multilineage dysplasia · AML with myelodysplasia-related features · Acute myeloid leukemia with multilineage dysplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare acute myeloid leukemia (AML) characterized by the presence of acute leukemia with at least 20% peripheral blood or bone marrow blasts with morphological features of myelodysplasia, or occurrence in patients with a prior history of a myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasm, with MDS-related cytogenetic abnormalities, in the absence of specific genetic abnormalities characteristic of AML with recurrent genetic abnormalities. Prior cytotoxic or radiation therapy for an unrelated disease must be excluded. The condition occurs mainly in elderly patients and is rare in children. Patients often present with severe pancytopenia. Prognosis is generally poor.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute myeloid leukaemia with myelodysplasia-related features | AML with multilineage dysplasia · AML with myelodysplasia-related features · Acute myeloid leukemia with multilineage dysplasia |
| fr | Leucémies aiguës myéloïdes avec anomalies liées aux myélodysplasies | LAM avec anomalies liées aux myélodysplasies · LAM avec dysplasie multilignée · Leucémie aiguë myéloïde avec dysplasie multilignée |
| de | Akute myeloische Leukämie mit Myelodysplasie-assoziierten Veränderungen | AML mit Myelodysplasie-assoziierten Veränderungen · AML mit multilineärer Dysplasie · Leukämie, akute myeloische, mit multilineärer Dysplasie |
| es | Leucemia mieloide aguda con características relacionadas con la mielodisplasia | LMA con características mielodisplásicas · LMA con displasia multilíneal · Leucemia mieloide aguda con displasia multilineal |
| it | Leucemia mieloide acuta con caratteristiche correlate alla mielodisplasia | AML con displasia multilineare |
| nl | Acute myeloïde leukemie met myelodysplasie-gerelateerde kenmerken | AML met multilineaire dysplasie · AML met myelodysplasie-gerelateerde kenmerken · Acute myeloïde leukemie met dysplasie van meerdere cellijnen · Acute myeloïde leukemie met multilineaire dysplasie |
| pt | Leucemia mielóide aguda com características mielodisplasia-relacionadas | Leucemia mielóide aguda com displasia multilinear |
| pl | Ostra białaczka szpikowa z dysplazją wieloliniową | AML z dysplazją wieloliniową |
| cs | Akutní myeloidní leukémie s dysplázií více linií | AML s dysplázií více krevních linií |
| uk | Гостра мієлоїдна лейкемія з ознаками мієлодисплазії | Гостра мієлоїдна лейкемія з мультилінійною дисплазією · ГМЛ з мультилінійною дисплазією · ГМЛ з ознаками мієлодисплазії |
| zh | 急性髓性白血病伴骨髓发育不良特征 | 急性髓系白血病伴多系发育不良 |
| tr | Miyelodisplazi-ilişkili özellikler ile seyreden akut miyeloid lösemi | Çoklu kökenli displazili AML · Miyelodisplazi ilişkili özelliklere sahip AML · Çoklu kökenli displazili akut miyeloid lösemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601626 | NTBT | validated | |
| ICD-10 | C92.8 | E | specific | validated |
| ICD-11 | 2A60.1 | E | specific | validated |
| MONDO | 0019456 | E | validated | |
| UMLS | C1292773 | E | validated | |
| GARD | 12761 | 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:519Acute myeloid leukemia
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ASXL1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:18318 | ENSG00000171456 | 612990 | 20q11.21 | ASXL transcriptional regulator 1 | 28297624[PMID] |
| DNMT3A | Disease-causing somatic mutation(s) in | Assessed | HGNC:2978 | ENSG00000119772 | 602769 | 2p23.3 | DNA methyltransferase 3 alpha | 28297624[PMID] |
| IDH1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:5382 | ENSG00000138413 | 147700 | 2q34 | isocitrate dehydrogenase (NADP(+)) 1 | 28297624[PMID] |
| IDH2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:5383 | ENSG00000182054 | 147650 | 15q26.1 | isocitrate dehydrogenase (NADP(+)) 2 | 28297624[PMID] |
| TET2 | Disease-causing somatic mutation(s) in | Not yet assessed | HGNC:25941 | ENSG00000168769 | 612839 | 4q24 | tet methylcytosine dioxygenase 2 | 19557078[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/86845
- This record as JSON: /data/d/86845.json