Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Synonyms: AML with t(8;21)(q22;q22) translocation
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare acute myeloid leukemia with recurrent genetic anomaly disorder characterized by a t(8;21)(q22;q22) balanced translocation cytogenetic abnormality, forming a RUNX1-RUNX1T1 fusion gene, presenting with morphological characteristics which include myeloblasts with indented nuclei, basophilic cytoplasm with a prominent paranuclear hof that may contain a few azurophilic granules, prominent and possibly large promyelocytes, myelocytes and metamyelocytes, easily identifiable Auer rods and, more variably, bone marrow eosinophilia. Myeloid sarcoma is frequently present at diagnosis. Detection of the t(8;21)(q22;22) translocation is sufficient for diagnosis irrespective of blast count.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | AML with t(8;21)(q22;q22) translocation |
| fr | Leucémie myéloblastique aiguë type associée à une translocation t(8;21)(q22;q22) | |
| de | Akute myeloische Leukämie mit Translokation t(8;21)(q22;q22) | AML mit Translokation t(8;21)(q22;q22) |
| es | Leucemia mieloide aguda con traslocación t(8;21)(q22;q22) | LMA con translocación t(8;21)(q22;q22) |
| it | Leucemia mieloide acuta con traslocazione t(8;21)(q22;q22) | AML con traslocazione t(8;21)(q22;q22) |
| nl | Acute myeloïde leukemie met t(8;21)(q22;q22) translocatie | AML met t(8;21)(q22;q22) translocatie |
| pt | Leucemia mielóide aguda com translocação t(8;21)(q22;q22) | |
| pl | Ostra białaczka szpikowa z translokacją t(8;21)(q22;q22) | AML z translokacją t(8;21)(q22;q22) |
| cs | Akutní myeloidní leukémie s t(8;21)(q22;q22) translokací | AML s t(8;21)(q22;q22) translokací |
| uk | Гостра мієлоїдна лейкемія з транслокацією t(8;21)(q22;q22) | ГМЛ з транслокацією t(8;21)(q22;q22) |
| zh | 急性髓系白血病伴t（8；21）（q22；q22）易位 | 急性髓性白血病伴t(8;21)(q22;q22) |
| tr | t (8; 21) (q22; q22) translokasyonlu akut miyeloid lösemi | t(8; 21) (q22; q22) translokasyonu ile seyreden AML |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C92.0 | NTBT | inclusion | validated |
| ICD-11 | 2A60.0 | NTBT | index | validated |
| MONDO | 0015166 | E | validated | |
| UMLS | C1292774 | 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:98277Acute myeloid leukemia with recurrent genetic anomaly
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 |
|---|---|---|---|---|---|---|---|---|
| CEBPA | Biomarker tested in | Assessed | HGNC:1833 | ENSG00000245848 | 116897 | 19q13.11 | CCAAT enhancer binding protein alpha | |
| FLT3 | Biomarker tested in | Assessed | HGNC:3765 | ENSG00000122025 | 136351 | 13q12.2 | fms related receptor tyrosine kinase 3 | 23783394[PMID] |
| KIT | Biomarker tested in | Assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase | 23783394[PMID]_24226631[PMID] |
| RUNX1 | Part of a fusion gene in | Assessed | HGNC:10471 | ENSG00000159216 | 151385 | 21q22.12 | RUNX family transcription factor 1 | 19357394[PMID] |
| RUNX1T1 | Part of a fusion gene in | Assessed | HGNC:1535 | ENSG00000079102 | 133435 | 8q21.3 | RUNX1 partner transcriptional co-repressor 1 | 19357394[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/102724
- This record as JSON: /data/d/102724.json