ORPHA:520
Acute promyelocytic leukemia
Synonyms: AML M3 · AML with t(15;17)(q22;q12);(PML/RARalpha) and variants · APML · Acute myeloblastic leukemia 3 · Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells, and manifests with easy bruising, hemorrhagic diathesis and fatigue.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute promyelocytic leukemia | AML M3 · AML with t(15;17)(q22;q12);(PML/RARalpha) and variants · APML · Acute myeloblastic leukemia 3 · Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants |
| fr | Leucémie aiguë promyélocytaire | AML M3 · Leucémie aiguë myéloblastique 3 · Leucémie aiguë myéloïde avec t(15;17)(q22;q12);(PML/RARalpha) et variants |
| de | Promyelozytenleukämie, akute | AML mit t(15;17)(q22;q12);(PML/RARalpha) und Varianten · AML-M3 · APML · Akute myeloische Leukämie mit t(15;17)(q22;q12);(PML/RARalpha) und Varianten · Leukämie, akute myeloische, Typ 3 |
| es | Leucemia promielocítica aguda | LMA M3 · LMA con t(15;17)(q22;q12);(PML/RARalpha) y variantes · LPA · Leucemia aguda mieloide con t(15;17)(q22;q12);(PML/RARalpha) y variantes · Leucemia mieloblástica aguda tipo 3 · Leucemia mieloide aguda con t(15;17)(q22;q12);(PML/RARalpha) y variantes |
| it | Leucemia promielocitica acuta | AML con t(15;17)(q22;q12);(PML/RARalpha) e varianti · Leucemia mieloblastica acuta, tipo 3 · Leucemia mieloide acuta con t(15;17) (q22;q12); (PML/RARalpha) e varianti · Leucemia mieloide acuta con t(15;17)(q22;q12); (PML/RARalpha) e varianti |
| nl | Acute promyelocytische leukemie | AML M3 · AML met t(15;17)(q22;q12);(PML/RARalfa) en varianten · APML · Acute myeloblastische leukemie 3 · Acute myeloïde leukemie met t(15;17)(q22;q12);(PML/RARalfa) en varianten |
| pt | Leucemia promielocítica aguda | Leucemia mieloblástica aguda tipo 3 |
| pl | Ostra białaczka promielocytowa | APML · AML M3 · Ostra białaczka mieloblastyczna 3 · AML z t(15;17)(q22;q12);(PML/RARalpha) i wariantami · Ostra białaczka mielocytarna z t(15;17)(q22;q12);(PML/RARalpha) i wariantami |
| cs | Akutní promyelocytární leukémie | AML M3 · AML s t(15;17)(q22;q12);(PML/RARalpha) a varianty · Akutní myeloblastická leukémie, typ 3 · Akutní myeloidní leukémie s t(15;17)(q22;q12);(PML/RARalpha) a varianty |
| uk | Гострий промієлоцитарний лейкоз | Гострий мієлобластний лейкоз 3 · Гострий мієлоїдний лейкоз з t(15;17)(q22;q12);(PML/RARalpha) та варіанти · AML M3 · AML з t(15;17)(q22;q12);(PML/RARalpha) та варіантами · APML |
| zh | 急性早幼粒细胞白血病 | 急性早幼粒细胞白血病伴t(15;17)(q22;q12)PML/RARalpha与变异 |
| tr | Akut promiyelositik lösemi | APML · AML M3 · Akut miyeloblastik lösemi 3 · t(15; 17) (q22; q12); (PML / RARalpha) ve varyantları ile seyreden AML · t(15; 17) (q22; q12); (PML / RARalpha) ve varyantları ile seyreden akut miyeloid lösemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612376 | E | validated | |
| ICD-10 | C92.4 | E | specific | validated |
| ICD-11 | 2A60.0 | NTBT | attributed | validated |
| ICD-11 | XH1A50 | E | specific | validated |
| MONDO | 0012883 | E | validated | |
| MeSH | D015473 | E | validated | |
| UMLS | C0023487 | E | validated | |
| GARD | 538 | E | validated | |
| MedDRA | 10001019 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
13 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BCOR | Part of a fusion gene in | Assessed | HGNC:20893 | ENSG00000183337 | 300485 | Xp11.4 | BCL6 corepressor | 20807888[PMID]_25790901[PMID] |
| FIP1L1 | Part of a fusion gene in | Assessed | HGNC:19124 | ENSG00000145216 | 607686 | 4q12 | factor interacting with PAPOLA and CPSF1 | 18603554[PMID] |
| IRF2BP2 | Part of a fusion gene in | Assessed | HGNC:21729 | ENSG00000168264 | 615332 | 1q42.3 | interferon regulatory factor 2 binding protein 2 | 25583766[PMID]_27193600[PMID] |
| NABP1 | Part of a fusion gene in | Assessed | HGNC:26232 | ENSG00000173559 | 612103 | 2q32.3 | nucleic acid binding protein 1 | 23287866[PMID] |
| NPM1 | Part of a fusion gene in | Assessed | HGNC:7910 | ENSG00000181163 | 164040 | 5q35.1 | nucleophosmin 1 | |
| NUMA1 | Part of a fusion gene in | Assessed | HGNC:8059 | ENSG00000137497 | 164009 | 11q13.4 | nuclear mitotic apparatus protein 1 | 9288109[PMID] |
| PML | Part of a fusion gene in | Assessed | HGNC:9113 | ENSG00000140464 | 102578 | 15q24.1 | PML nuclear body scaffold | 10942371[PMID] |
| PRKAR1A | Part of a fusion gene in | Assessed | HGNC:9388 | ENSG00000108946 | 188830 | 17q24.2 | protein kinase cAMP-dependent type I regulatory subunit alpha | 17712046[PMID] |
| RARA | Part of a fusion gene in | Assessed | HGNC:9864 | ENSG00000131759 | 180240 | 17q21.2 | retinoic acid receptor alpha | 10942371[PMID] |
| STAT3 | Part of a fusion gene in | Assessed | HGNC:11364 | ENSG00000168610 | 102582 | 17q21.2 | signal transducer and activator of transcription 3 | 29237593[PMID] |
| STAT5B | Part of a fusion gene in | Assessed | HGNC:11367 | ENSG00000173757 | 604260 | 17q21.2 | signal transducer and activator of transcription 5B | 18221386[PMID] |
| TBL1XR1 | Part of a fusion gene in | Assessed | HGNC:29529 | ENSG00000177565 | 608628 | 3q26.32 | TBL1X/Y related 1 | 24782508[PMID] |
| ZBTB16 | Part of a fusion gene in | Assessed | HGNC:12930 | ENSG00000109906 | 176797 | 11q23.2 | zinc finger and BTB domain containing 16 | 8387545[PMID]_10942371[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.28 / 100 000 | United States | Value and class | Validated | 22707337[PMID]_21653939[PMID]_ ORPHANET |
| Annual incidence | 1-9 / 1 000 000 | 0.11 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.3 / 100 000 | France | Value and class | Validated | OTHERitut National du Cancer 2013[OTHER] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
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HPO phenotypes
36 annotations · validated 2019-05-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0001903 | Anemia | |
| HP:0002039 | Anorexia | |
| HP:0031020 | Bone marrow hypercellularity | |
| HP:0000978 | Bruising susceptibility | |
| HP:0031035 | Chronic infection | |
| HP:0005521 | Disseminated intravascular coagulation | |
| HP:0031364 | Ecchymosis | |
| HP:0000421 | Epistaxis | |
| HP:0002875 | Exertional dyspnea | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0000225 | Gingival bleeding | |
| HP:0001882 | Leukopenia | |
| HP:0001324 | Muscle weakness | |
| HP:0001876 | Pancytopenia | |
| HP:0000967 | Petechiae | |
| HP:0000979 | Purpura | |
| HP:0001873 | Thrombocytopenia | |
| HP:0002321 | Vertigo | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0030955 | Alcoholism | |
| HP:0002653 | Bone pain | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0025420 | Diffuse alveolar hemorrhage | |
| HP:0000212 | Gingival overgrowth | |
| HP:0011900 | Hypofibrinogenemia | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0002716 | Lymphadenopathy | |
| HP:0030140 | Oral cavity bleeding | |
| HP:0031245 | Productive cough | |
| HP:0010280 | Stomatitis | |
| Very rare (<4-1%) | ||
| HP:0100758 | Gangrene | |
| HP:0000790 | Hematuria | |
| HP:0100608 | Metrorrhagia | |
Annotation source: 30666067[PMID]_30715157[PMID]_30854206[PMID]_26414475[PMID]_28735889[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/520
- This record as JSON: /data/d/520.json