Acute myeloid leukemia with NPM1 somatic mutations
Synonyms: AML with NPM1 somatic mutations
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. The disease is characterized by clonal proliferation of myeloid blasts harboring mutations of the <i>NPM1</i> gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute myeloid leukemia with NPM1 somatic mutations | AML with NPM1 somatic mutations |
| fr | Leucémie myéloïde aiguë associée à des mutations somatiques de NPM1 | |
| de | Akute myeloische Leukämie mit somatischen NPM1-Genmutationen | AML mit somatischen NPM1-Genmutationen |
| es | Leucemia mieloide aguda con mutaciones somáticas en el gen NPM1 | LMA con mutaciones somáticas en el gen NPM1 |
| it | Leucemia mieloide acuta con mutazioni somatiche di NPM1 | AML con mutazioni somatiche di NPM1 |
| nl | Acute myeloïde leukemie met somatische NPM1-mutaties | AML met somatische NPM1-mutaties |
| pt | Leucemia mielóide aguda com mutações somáticas NPM1 | |
| pl | Ostra białaczka szpikowa z somatycznymi mutacjami NPM1 | AML z somatycznymi mutacjami NPM1 |
| cs | Akutní myeloidní leukémie se somatickými mutacemi v genu NPM1 | AML se somatickými mutacemi v genu NPM1 |
| uk | Гостра мієлоїдна лейкемія з соматичними мутаціями NPM1 | ГМЛ з соматичними мутаціями NPM1 |
| zh | 急性髓系白血病伴NPM1体细胞突变 | AML伴NPM1体细胞突变 |
| tr | NPM1 somatik mutasyon ile seyreden akut miyeloid lösemi | NPM1 somatik mutasyonlu 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 |
| ICD-11 | XH74W8 | E | specific | validated |
| MONDO | 0018437 | E | validated | |
| UMLS | C4706386 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NPM1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:7910 | ENSG00000181163 | 164040 | 5q35.1 | nucleophosmin 1 | 19357394[PMID]_23301224[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/402026
- This record as JSON: /data/d/402026.json