Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
Synonyms: AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) | AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) |
| fr | Leucémie myéloïde aiguë associée à inv(3)(q21q26.2) ou t(3;3)(q21;q26.2) | |
| de | Akute myeloische Leukämie mit inv3(q21q26.2) oder t(3;3)(q21;q26.2) | AML mit inv3(p21;q26.2) oder t(3;3)(p21;q26.2) |
| es | Leucemia mieloide aguda con inv(3)(q21;q26.2) o t(3;3)(q21;q26.2) | LMA con inv(3)(q21;q26.2) o t(3;3)(q21;q26.2) |
| it | Leucemia mieloide acuta con inv3(p21;q26.2) o t(3;3)(p21;q26.2) | AML con inv3(p21;q26.2) o t(3;3)(p21;q26.2) |
| nl | Acute myeloïde leukemie met inv3(q21;q26.2) of t(3;3)(q21;q26.2) | AML met inv3(q21;q26.2) of t(3;3)(q21;q26.2) |
| pt | Leucemia mielóide aguda com inv3(p21;q26.2) ou t(3;3)(p21;q26.2) | |
| pl | Ostra białaczka szpikowa z inv3(p21;q26.2) i t(3;3)(p21;q26.2) | AML z inv3(p21;q26.2) lub t(3;3)(p21;q26.2) |
| cs | Akutní myeloidní leukémie s inv3(p21;q26.2) nebo t(3;3)(p21;q26.2) | AML s inv3(p21;q26.2) nebo t(3;3)(p21;q26.2) |
| uk | Гострий мієлоїдний лейкоз з inv(3)(q21q26.2) або t(3;3)(q21;q26.2) | AML з inv(3)(q21q26.2) або t(3;3)(q21;q26.2) |
| zh | 急性髓系白血病伴inv(3)(q21q26.2) or t(3;3)(q21;q26.2)变异 | AML伴inv(3)(q21q26.2)或t(3;3)(q21;q26.2) |
| tr | inv (3)(q21q26.2) veya t(3; 3)(q21; q26.2) ile seyreden akut miyeloid lösemi | inv(3)(q21q26.2) veya t(3;3)(q21;q26.2)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 | 0018435 | E | validated | |
| UMLS | C2826172 | E | validated | |
| GARD | 12759 | 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 |
|---|---|---|---|---|---|---|---|---|
| MECOM | Part of a fusion gene in | Assessed | HGNC:3498 | ENSG00000085276 | 165215 | 3q26.2 | MDS1 and EVI1 complex locus | 19357394[PMID]_20556821[PMID] |
| RPN1 | Part of a fusion gene in | Assessed | HGNC:10381 | ENSG00000163902 | 180470 | 3q21.3 | ribophorin I | 19357394[PMID]_20556821[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 0.02 / 100 000 | Worldwide | Value and class | Validated | 36951163[PMID]_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/402020
- This record as JSON: /data/d/402020.json