Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Synonyms: AML with t(8;16)(p11;p13) translocation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found <i>de novo</i> or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute myeloid leukemia with t(8;16)(p11;p13) translocation | AML with t(8;16)(p11;p13) translocation |
| fr | Leucémie myéloblastique aiguë associée à une translocation t(8;16)(p11;p13) | |
| de | Akute myeloische Leukämie mit Translokation t(8;16)(p11;p13) | AML mit Translokation t(8;16)(p11;p13) |
| es | Leucemia mieloide aguda con translocación t(8;16)(p11;p13) | LMA con translocación t(8;16)(p11;p13) |
| it | Leucemia mieloide acuta con traslocazione t(8;16)(p11;p13) | AML con traslocazione t(8;16)(p11;p13) |
| nl | Acute myeloïde leukemie met t(8;16)(p11;p13) translocatie | AML met t(8;16)(p11;p13) translocatie |
| pt | Leucemia mielóide aguda com translocação t(8;16)(p11;p13) | |
| pl | Ostra białaczka szpikowa z translokacją t(8;16)(p11;p13) | AML z translokacją t(8;16)(p11;p13) |
| cs | Akutní myeloidní leukémie s translokací t(8;16)(p11;p13) | AML s translokací t(8;16)(p11;p13) |
| uk | Гостра мієлоїдна лейкемія з транслокацією t(8;16)(p11;p13) | АМЛ з транслокацією t(8;16)(p11;p13) |
| zh | 急性髓系白血病伴t(8;16)(p11;p13)易位 | AML伴t(8;16)(p11;p13)易位 |
| tr | t(8; 16) (p11; p13) translokasyon ile seyreden akut miyeloid lösemi | t(8; 16) (p11; p13) translokasyonu 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 | attributed | validated |
| MONDO | 0018256 | E | validated | |
| UMLS | C4511003 | 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 |
|---|---|---|---|---|---|---|---|---|
| CREBBP | Part of a fusion gene in | Assessed | HGNC:2348 | ENSG00000005339 | 600140 | 16p13.3 | CREB binding lysine acetyltransferase | 23974201[PMID]_18698081[PMID] |
| KAT6A | Part of a fusion gene in | Assessed | HGNC:13013 | ENSG00000083168 | 601408 | 8p11.21 | lysine acetyltransferase 6A | 23974201[PMID]_18698081[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 23974201[PMID] |
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/370026
- This record as JSON: /data/d/370026.json