Mixed phenotype acute leukemia
Synonyms: MPAL
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A group of rare acute leukemias of ambiguous lineage characterized by the presence of separate populations of blasts of more than one lineage (bilineal), a single population of blasts coexpressing antigens of more than one lineage (biphenotypic), or a combination thereof. The diagnosis relies on immunophenotyping, the T-cell component being characterized by strong expression of cytoplasmic CD3, usually in the absence of surface CD3, the B-cell component expressing CD19, almost always together with CD10, cCD79a, CD22, or PAX5, while the most specific hallmark of the myeloid component is the presence of myeloperoxidase in the blast cytoplasm.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mixed phenotype acute leukemia | MPAL |
| fr | Leucémie aiguë de phénotype mixte | = en |
| de | Akute Leukämie mit gemischtem Phänotyp | = en |
| es | Leucemia aguda de fenotipo mixto | = en |
| it | Leucemia acuta con fenotipo misto | |
| nl | Acute leukemie met gemengd fenotype | = en |
| pt | Leucemia aguda de fenótipo misto | |
| pl | Ostra białaczka o mieszanym fenotypie | = en |
| cs | Akutní leukémie smíšeného fenotypu | = en |
| uk | Гострий лейкоз зі змішаним фенотипом | = en |
| zh | 混合表型急性白血病 | = en |
| tr | Karma fenotip akut lösemi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601626 | NTBT | validated | |
| ICD-10 | C95.0 | NTBT | attributed | validated |
| ICD-11 | 2A61 | NTBT | attributed | validated |
| MONDO | 0020743 | E | validated | |
| UMLS | C2826025 | 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:86851Acute leukemia of ambiguous lineage
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
Codes that Orphanet moved or referred to this one:
- ORPHA:98836Bilineal acute leukemia moved to · inactive
- ORPHA:98837Acute biphenotypic leukemia moved to · inactive
Genes
0 direct · 5 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| FLT3 | ORPHA:589534Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) | Disease-causing somatic mutation(s) in | Assessed | HGNC:3765 | ENSG00000122025 | 136351 | 13q12.2 | fms related receptor tyrosine kinase 3 | 27069254[PMID]_29072953[PMID]_26276768[PMID] |
| FLT3 | ORPHA:589595Mixed phenotype acute leukemia with t(v;11q23.3) | Disease-causing somatic mutation(s) in | Assessed | HGNC:3765 | ENSG00000122025 | 136351 | 13q12.2 | fms related receptor tyrosine kinase 3 | 27069254[PMID]_29072953[PMID]_26276768[PMID] |
| AFF1 | ORPHA:589595Mixed phenotype acute leukemia with t(v;11q23.3) | Part of a fusion gene in | Assessed | HGNC:7135 | ENSG00000172493 | 159557 | 4q21.3-q22.1 | ALF transcription elongation factor 1 | |
| KMT2A | ORPHA:589534Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) | Part of a fusion gene in | Assessed | HGNC:7132 | ENSG00000118058 | 159555 | 11q23.3 | lysine methyltransferase 2A | 27069254[PMID]_29072953[PMID]_26276768[PMID] |
| KMT2A | ORPHA:589595Mixed phenotype acute leukemia with t(v;11q23.3) | Part of a fusion gene in | Assessed | HGNC:7132 | ENSG00000118058 | 159555 | 11q23.3 | lysine methyltransferase 2A | 27069254[PMID]_29072953[PMID]_26276768[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/530995
- This record as JSON: /data/d/530995.json