Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Synonyms: AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult
- Status
- active
A rare acute myeloid leukemia (AML) with recurrent genetic anomaly disorder characterized by an inv(16)(p13q22) or t(16;16)(p13;q22) cytogenic abnormality, which generates a CBFB-MYH11 fusion gene, presenting with typical morphologic features of AML as well as abnormal bone marrow eosinophils (seen in all stages of maturation with no significant signs of maturation arrest). Myeloid sarcoma and involvement of the central nervous system is relatively common. Cytology reveals myeloblasts, a significant monocytic component and variable numbers of immature eosinophils with atypical purple-violet granules in addition to eosinophilic granules. Presence of the fusion gene is sufficent for diagnosis irrespective of blast count.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) |
| fr | Leucémie aiguë myéloïde avec éosinophiles médullaires anormaux associée à inv(16)(p13q22) ou t(16;16)(p13;q22) | |
| de | Akute myeloische Leukämie mit anormalen Eosinophilen und inv(16)(p13q22) oder t(16;16)(p13;q22) | AML mit anormalen Eosinophilen und inv(16)(p13q22) oder t(16;16)(p13;q22) |
| es | Leucemia mieloide aguda con eosinófilos anómalos en la médula ósea con inv(16)(p13q22) o t(16;16)(p13;q22) | LMA con eosinófilos anómalos de la médula ósea inv(16)(p13q22) o t(16;16)(p13;q22) |
| it | Leucemia mieloide acuta con eosinofili midollari anomali, associata a inv(16)(p13q22) o t(16;16)(p13;q22) | AML con eosinofili midollari anomali, associata a inv(16)(p13q22) o t(16;16)(p13;q22) |
| nl | Acute myeloïde leukemie met abnormale beenmergeosinofielen inv(16)(p13q22) of t(16;16)(p13;q22) | AML met abnormale beenmergeosinofielen inv(16)(p13q22) of t(16;16)(p13;q22) |
| pt | Leucemia mielóide, aguda com anomalia inv(16)(p13q22) ou t(16;16)(p13;q22) dos eosinófilos da medula óssea | |
| pl | Ostra białaczka szpikowa z nieprawidłowymi eozynofilami inv(16)(p13q22) lub t(16;16)(p13;q22 w szpiku | AML z nieprawidłowymi eozynofilami inv(16)(p13q22) lub t(16;16)(p13;q22 w szpiku |
| cs | Akutní myeloidní leukémie s abnormálními eozinofily kostní dřeně a inv(16)(p13q22) nebo t(16;16)(p13;q22) | AML s abnormálními eozinofily kostní dřeně a inv(16)(p13q22) nebo t(16;16)(p13;q22) |
| uk | Гострий мієлоїдний лейкоз з аномальними еозинофілами кісткового мозку inv(16)(p13q22) або t(16;16)(p13;q22) | ГМЛ з аномальними еозинофілами кісткового мозку inv(16)(p13q22) або t(16;16)(p13;q22) |
| zh | 急性髓系白血病伴骨髓嗜酸性粒细胞异常及inv(16)(p13q22)或t(16;16)(p13;q22) | AML伴异常骨髓嗜酸性粒细胞inv(16)(p13q22)或t(16;16)(p13;q22) |
| tr | Anormal kemik iliği eozinofilleri inv(16) (p13q22) veya t(16;16) (p13;q22) ile seyreden akut miyeloid lösemi | Anormal kemik iliği eozinofilleri olan AML inv (16) (p13q22) veya t (16; 16) (p13; q22) |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C92.5 | NTBT | inclusion | validated |
| ICD-11 | 2A60.0 | NTBT | index | validated |
| MONDO | 0020316 | E | validated | |
| UMLS | C5395080 | E | validated | |
| GARD | 536 | 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
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLT3 | Biomarker tested in | Assessed | HGNC:3765 | ENSG00000122025 | 136351 | 13q12.2 | fms related receptor tyrosine kinase 3 | 23783394[PMID] |
| KIT | Biomarker tested in | Assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase | 23783394[PMID]_24226631[PMID] |
| CBFB | Part of a fusion gene in | Assessed | HGNC:1539 | ENSG00000067955 | 121360 | 16q22.1 | core-binding factor subunit beta | 19357394[PMID] |
| MYH11 | Part of a fusion gene in | Assessed | HGNC:7569 | ENSG00000133392 | 160745 | 16p13.11 | myosin heavy chain 11 | 19357394[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | — | Europe | Class only | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98829
- This record as JSON: /data/d/98829.json