Acute panmyelosis with myelofibrosis
Synonyms: Acute myelodysplasia with myelofibrosis · Acute myelofibrosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare unclassified acute myeloid leukemia characterized by an acute panmyeloid proliferation with blasts constituting more than 20% of cells in the bone marrow or peripheral blood, accompanied by fibrosis of the bone marrow. Patients typically present with acute onset of severe constitutional symptoms, bone pain, and pancytopenia. Splenomegaly is minimal or absent. The disease is rapidly progressive with poor therapy response.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute panmyelosis with myelofibrosis | Acute myelodysplasia with myelofibrosis · Acute myelofibrosis |
| fr | Panmyélose aiguë avec myélofibrose | Myélodysplasie aiguë avec myélofibrose · Myélofibrose aiguë |
| de | Akute Panmyelose mit Myelofibrose | Akute Myelodysplasie mit Myelofibrose · Myelofibrose, akute · Myelosklerose, akute |
| es | Panmielosis aguda con mielofibrosis | Mielodisplasia aguda con mielofibrosis · Mieloesclerosis aguda · Mielofibrosis aguda |
| it | Panmielosi acuta con mielofibrosi | Mielodisplasia acuta con mielofibrosi · Mielofibrosi acuta · Mielosclerosi acuta |
| nl | Acute panmyelose met myelofibrose | Acute myelodysplasie met myelofibrose · Acute myelofibrose · Acute myelosclerose |
| pt | Panmielose aguda com mielofibrose | |
| pl | Ostra panmieloza z mielofibrozą | Ostra mielodysplazja z mielofibrozą · Ostra mielofibroza · Ostra mieloskleroza |
| cs | Akutní panmyelóza s myelofibrózou | Akutní myelodysplázie s myelofibrózou · Akutní myelofibróza · Akutní myeloskleróza |
| uk | Гострий панмієлоз з мієлофіброзом | Гостра мієлодисплазія з мієлофіброзом · Гострий мієлофіброз |
| zh | 急性全髓增殖症伴骨髓纤维化 | 急性骨髓发育不良伴骨髓纤维化 |
| tr | Miyelofibroz ile seyreden akut panmiyeloz | Akut miyelofibroz · Akut miyeloskleroz · Miyelofibroz ile seyreden akut miyelodisplazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C94.4 | E | specific | validated |
| ICD-11 | 2A60.38 | E | specific | validated |
| MONDO | 0019455 | E | validated | |
| UMLS | C0334674 | E | validated | |
| GARD | 11907 | E | validated | |
| MedDRA | 10000879 | 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:167714Unclassified acute myeloid leukemia
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.06 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
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
15 annotations · validated 2019-06-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011974 | Myelofibrosis | |
| HP:0001876 | Pancytopenia | |
| Frequent (79-30%) | ||
| HP:0012143 | Abnormal megakaryocyte morphology | |
| HP:0012129 | Abnormality of bone marrow stromal cells | |
| HP:0031020 | Bone marrow hypercellularity | |
| HP:0012378 | Fatigue | |
| HP:0001324 | Muscle weakness | |
| Occasional (29-5%) | ||
| HP:0004808 | Acute myeloid leukemia | |
| HP:0004820 | Acute myelomonocytic leukemia | |
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0031386 | Increased micromegakaryocyte count | |
| HP:0003419 | Low back pain | |
| HP:0100827 | Lymphocytosis | |
| HP:0031385 | Megakaryocyte nucleus hypolobulation | |
| Very rare (<4-1%) | ||
| HP:0001744 | Splenomegaly | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 15173958[PMID]_23795280[PMID]_24192103[PMID]_30103016[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86843
- This record as JSON: /data/d/86843.json