Acute myeloid leukemia with t(6;9)(p23;q34)
Synonyms: AML with t(6;9)(p23;q34)
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute myeloid leukemia with t(6;9)(p23;q34) | AML with t(6;9)(p23;q34) |
| fr | Leucémie myéloïde aiguë associée à t(6;9)(p23;q34) | |
| de | Akute myeloische Leukämie mit t(6;9)(p23;q34) | AML mit t(6;9)(p23;q34) |
| es | Leucemia mieloide aguda con t(6;9)(p23;q34) | LMA con t(6;9)(p23;q34) |
| it | Leucemia mieloide acuta con t(6;9)(p23;q34) | AML con t(6;9)(p23;q34) |
| nl | Acute myeloïde leukemie met t(6;9)(p23;q34) | AML met t(6;9)(p23;q34) |
| pt | Leucemia mielóide aguda com t(6;9)(p23;q34) | |
| pl | Ostra białaczka szpikowa z t(6;9)(p23;q34) | AML z t(6;9)(p23;q34) |
| cs | Akutní myeloidní leukémie s t(6;9)(p23;q34) | AML s t(6;9)(p23;q34) |
| uk | Гостра мієлоїдна лейкемія з t(6;9)(p23;q34) | AML з t(6;9)(p23;q34) |
| zh | 急性髓系白血病伴t(6;9)(p23;q34)变异 | AML伴t(6;9)(p23;q34) |
| tr | t(6; 9) (p23; q34) ile seyreden akut miyeloid lösemi | t(6; 9)(p23; q34) ile seyreden AML |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C92.0 | NTBT | attributed | validated |
| ICD-11 | 2A60.0 | NTBT | index | validated |
| MONDO | 0018433 | E | validated | |
| UMLS | C4518837 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DEK | Part of a fusion gene in | Assessed | HGNC:2768 | ENSG00000124795 | 125264 | 6p22.3 | DEK proto-oncogene | 19357394[PMID] |
| NUP214 | Part of a fusion gene in | Assessed | HGNC:8064 | ENSG00000126883 | 114350 | 9q34.13 | nucleoporin 214 | 19357394[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.02 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
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/402014
- This record as JSON: /data/d/402014.json