{"orpha":530995,"name":"Mixed phenotype acute leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MPAL"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-530995/","orphanet_url":"https://www.orpha.net/en/disease/detail/530995","names":{"fr":{"name":"Leucémie aiguë de phénotype mixte","synonyms":["MPAL"],"definition":"Groupe de leucémies aiguës rares de lignée ambiguë caractérisées par la présence de populations distinctes de blastes de plus d'une lignée (biphénotypique), d'une seule population de blastes coexprimant des antigènes de plus d'une lignée (biphénotypique), ou d'une association desdites populations. Le diagnostic repose sur l'immunophénotypage, la composante des lymphocytes T étant caractérisée par une forte expression du CD3 cytoplasmique, généralement en l'absence du CD3 de surface, la composante des cellules B exprimant le CD19, presque toujours avec le CD10, le cCD79a, le CD22 ou le PAX5, tandis que la caractéristique la plus spécifique de la composante myéloïde est la présence de myéloperoxydase dans le cytoplasme du blaste."},"de":{"name":"Akute Leukämie mit gemischtem Phänotyp","synonyms":["MPAL"],"definition":"Eine Gruppe seltener akuter Leukämien unklarer Abstammung, die durch das Vorhandensein getrennter Blastenpopulationen mehrerer Abstammungslinien (bilinear), einer einzigen Blastenpopulation, die Antigene mehrerer Abstammungslinien gleichzeitig exprimiert (biphenotypisch), oder einer Kombination davon gekennzeichnet sind. Die Diagnose stützt sich auf die Immunphänotypisierung, wobei die T-Zell-Komponente durch eine starke Expression von zytoplasmatischem CD3, in der Regel bei Fehlen von Oberflächen-CD3, gekennzeichnet ist, während die B-Zell-Komponente CD19, fast immer zusammen mit CD10, cCD79a, CD22 oder PAX5, exprimiert, während das spezifischste Merkmal der myeloischen Komponente das Vorhandensein von Myeloperoxidase im Zytoplasma der Blasten ist."},"es":{"name":"Leucemia aguda de fenotipo mixto","synonyms":["MPAL"],"definition":"Es un grupo poco frecuente de leucemias agudas de linaje ambiguo caracterizado por la presencia de poblaciones separadas de blastos de más de un linaje (bilineal), una única población de blastos que coexpresa antígenos de más de un linaje (bifenotípicos) o una combinación de los ambos. El diagnóstico se basa en el inmunofenotipado, caracterizándose el componente de células T por una fuerte expresión de CD3 citoplásmico, generalmente en ausencia de CD3 de superficie, el componente de células B por la expresión de CD19, casi siempre junto con CD10, cCD79a, CD22 o PAX5, mientras que la característica más específica del componente mieloide es la presencia de mieloperoxidasa en el citoplasma del blastocito."},"it":{"name":"Leucemia acuta con fenotipo misto","definition":"Si tratta di un gruppo di leucemie acute rare che posseggono una linea ambigua, caratterizzate dalla presenza di popolazioni separate di blasti appartenenti a più linee (bilineale), oppure da un'unica popolazione di blasti che esprimono contemporaneamente antigeni di più linee (bifenotipica) o da un'associazione tra le due. La diagnosi si basa sull'immunofenotipizzazione: la componente dei linfociti T è caratterizzata da una forte espressione di CD3 citoplasmatico, di solito in assenza di CD3 di superficie; la componente dei linfociti B esprime CD19, quasi sempre insieme a CD10, cCD79a, CD22 o PAX5, mentre la caratteristica distintiva della componente mieloide è la presenza di mieloperossidasi nel citoplasma dei blasti."},"nl":{"name":"Acute leukemie met gemengd fenotype","synonyms":["MPAL"],"definition":"Een groep van zeldzame acute leukemieën van ambigue cellijn, gekarakteriseerd door de aanwezigheid van aparte populaties van blastcellen afkomstig van meer dan een cellijn (bilineair), een enkele populatie van blastcellen met co-expressie van antigenen van meer dan een cellijn (bifenotypisch), of een combinatie van beiden. Diagnose is gebaseerd op immuunfenotypering, waarbij de T-cel component wordt gekenmerkt door sterke expressie van cytoplasmatisch CD3, meestal zonder CD3 op het celoppervlak, en de B-cel component CD19 tot expressie brengt, nagenoeg steeds samen met CD10, cCD79a, CD22, of PAX5, terwijl de aanwezigheid van myeloperoxidase in het cytoplasma van de blastcellen het meest specifieke kenmerk van de myeloïde component is."},"pt":{"name":"Leucemia aguda de fenótipo misto"},"pl":{"name":"Ostra białaczka o mieszanym fenotypie","synonyms":["MPAL"]},"cs":{"name":"Akutní leukémie smíšeného fenotypu","synonyms":["MPAL"]},"uk":{"name":"Гострий лейкоз зі змішаним фенотипом","synonyms":["MPAL"],"definition":"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."},"zh":{"name":"混合表型急性白血病","synonyms":["MPAL"]},"tr":{"name":"Karma fenotip akut lösemi","synonyms":["MPAL"]}},"xrefs":[{"source":"OMIM","code":"601626","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C95.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A61","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020743","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2826025","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":98836,"name":"Bilineal acute leukemia","status":"inactive"},{"type":"Moved to","orpha":98837,"name":"Acute biphenotypic leukemia","status":"inactive"}],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":86851,"name":"Acute leukemia of ambiguous lineage","classifications":[194,202,233]}],"children":[{"orpha":589534,"name":"Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)","type":"Etiological subtype"},{"orpha":589595,"name":"Mixed phenotype acute leukemia with t(v;11q23.3)","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"FLT3","name":"fms related receptor tyrosine kinase 3","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"27069254[PMID]_29072953[PMID]_26276768[PMID]","hgnc":"3765","ensembl":"ENSG00000122025","omim":"136351","loci":["13q12.2"],"via":{"orpha":589534,"name":"Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)"}},{"symbol":"FLT3","name":"fms related receptor tyrosine kinase 3","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"27069254[PMID]_29072953[PMID]_26276768[PMID]","hgnc":"3765","ensembl":"ENSG00000122025","omim":"136351","loci":["13q12.2"],"via":{"orpha":589595,"name":"Mixed phenotype acute leukemia with t(v;11q23.3)"}},{"symbol":"AFF1","name":"ALF transcription elongation factor 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"7135","ensembl":"ENSG00000172493","omim":"159557","loci":["4q21.3-q22.1"],"via":{"orpha":589595,"name":"Mixed phenotype acute leukemia with t(v;11q23.3)"}},{"symbol":"KMT2A","name":"lysine methyltransferase 2A","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"27069254[PMID]_29072953[PMID]_26276768[PMID]","hgnc":"7132","ensembl":"ENSG00000118058","omim":"159555","loci":["11q23.3"],"via":{"orpha":589534,"name":"Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)"}},{"symbol":"KMT2A","name":"lysine methyltransferase 2A","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"27069254[PMID]_29072953[PMID]_26276768[PMID]","hgnc":"7132","ensembl":"ENSG00000118058","omim":"159555","loci":["11q23.3"],"via":{"orpha":589595,"name":"Mixed phenotype acute leukemia with t(v;11q23.3)"}}],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}