{"orpha":518,"name":"Acute megakaryoblastic leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AMKL","AML M7","Acute megakaryocytic leukemia","Acute myeloid leukemia M7"],"definition":"A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-518/","orphanet_url":"https://www.orpha.net/en/disease/detail/518","names":{"fr":{"name":"Leucémie aiguë mégacaryoblastique","synonyms":["AMKL","AML M7","LAM M7","Leucémie aiguë myéloblastique type 7","Leucémie aigüe mégacaryocytaire"],"definition":"Leucémie aiguë myéloïde rare survenant principalement pendant l'enfance et en particulier chez les enfants atteints du syndrome de Down (DS-AMKL). Les symptômes non spécifiques peuvent être une irritabilité, une faiblesse et des vertiges, tandis que les symptômes spécifiques sont une pâleur, une fièvre, des hémorragies cutanéo-muqueuses, une hépatosplénomégalie, des troubles neurologiques et, rarement, une lymphadénopathie. Une panmyélose aiguë avec myélofibrose peut également être associée. Contrairement au DS-AMKL (environ 80 % de survie), la leucémie aiguë mégacaryoblastique non associée au syndrome de Down représente un sous-groupe d'AML caractérisé par un pronostic défavorable."},"de":{"name":"Akute Megakaryoblastenleukämie","synonyms":["AMKL","Leukämie, akute myeloische, Typ 7"]},"es":{"name":"Leucemia megacarioblástica aguda","synonyms":["AMKL","Leucemia mieloblástica aguda tipo 7"],"definition":"Es una forma de leucemia mieloide aguda (AML) que ocurre predominantemente en la infancia y, en particular, en niños con síndrome de Down (DS-AMKL). Los síntomas inespecíficos pueden incluir irritabilidad, debilidad y mareos, mientras que los síntomas específicos incluyen palidez, fiebre, sangrado mucocutáneo, hepatoesplenomegalia, manifestaciones neurológicas y, excepcionalmente, linfadenopatía. La panmelosis aguda con mielofibrosis también se puede asociar a este tipo de leucemia. En contraste con la DS-AMKL (alrededor del 80% de supervivencia), la AMKL no-DS es un subgrupo de AML asociado a un pronóstico desfavorable."},"it":{"name":"Leucemia megacarioblastica acuta","synonyms":["AMKL","Leucemia mieloblastica acuta, tipo 7"],"definition":"La leucemia megacarioblastica acuta (AMKL) è una forma di leucemia mieloide acuta (AML; si veda questo termine) che esordisce di solito nell'infanzia, in particolare nei bambini con sindrome di Down (DS-AMKL). I segni aspecifici comprendono l'irritabilità, la debolezza e le vertigini, mentre quelli specifici comprendono il pallore, la febbre, le emorragie muco-cutanee, l'epatosplenomegalia, i sintomi neurologici e, raramente, la linfoadenopatia. Può associarsi a panmielosi acuta con mielofibrosi (si veda questo termine). A differenza della DS-AMKL (tasso di sopravvivenza dell'80% circa), l'AMKL non associata alla sindrome di Down rappresenta un sottogruppo di AML caratterizzato da una prognosi sfavorevole."},"nl":{"name":"Acute megakaryoblastische leukemie","synonyms":["AMKL","AML M7","Acute megakaryocytaire leukemie","Acute myeloïde leukemie M7"],"definition":"Een zeldzame acute myeloïde leukemie (AML) die voornamelijk voorkomt in de kindertijd, en dan vooral bij kinderen met syndroom van Down (DS-AMKL). Mogelijke niet-specifieke symptomen zijn prikkelbaarheid, zwakte en duizeligheid, terwijl specifieke symptomen onder meer bleekheid, koorts, mucocutane bloeding, hepatosplenomegalie, neurologische manifestaties en zelden lymfadenopathie omvatten. Acute panmyelose met myelofibrose kan ook geassocieerd zijn met AMKL. In tegenstelling tot DS-AMKL (rond 80 % overleving) vormt niet-DS-AMKL een subgroep van AML die is geassocieerd met een slechte prognose."},"pt":{"name":"Leucemia megacarioblástica aguda","synonyms":["Leucemia mieloblástica aguda tipo 7"],"definition":"Forma de leucemia mieloide aguda que é composta por mais de 80% de monoblastos ou 30-80% de monoblastos com diferenciação (pro)monocítica. Apresenta-se com astenia, palidez, febre e tonturas. As características específicas incluem hiperleucocitose, propensão para infiltrados extramedulares, anomalias da coagulação, incluindo coagulação intravascular disseminada, e distúrbios neurológicos. Leucemia cutânea e infiltração gengival também podem ser observadas. Uma translocação característica observada é a t(9;11)."},"pl":{"name":"Ostra białaczka megakarioblastyczna","synonyms":["AMKL","Ostra białaczka mieloblastyczna typu 7"]},"cs":{"name":"Akutní megakaryoblastická leukémie","synonyms":["AMKL","AML M7","Akutní megakaryocytární leukémie","Akutní myeloidní leukémie M7"]},"uk":{"name":"Гострий мегакаріобластний лейкоз","synonyms":["Гострий мегакаріоцитарний лейкоз","Гостра мієлоїдна лейкемія M7","AMKL","AML M7"],"definition":"A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis."},"zh":{"name":"急性巨核细胞白血病","synonyms":["急性巨核细胞白血病"]},"tr":{"name":"Akut megakaryoblastik lösemi","synonyms":["AMKL","AML M7","Akut miyeloid lösemi M7","Akut megakaryositik lösemi"]}},"xrefs":[{"source":"ICD-10","code":"C94.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A60.36","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"877055215"},{"source":"ICD-11","code":"XH4750","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2057381869"},{"source":"MONDO","code":"0018872","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007947","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023462","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"524","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10000860","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":167714,"name":"Unclassified acute myeloid leukemia","classifications":[194,202,233]}],"children":[{"orpha":662934,"name":"Acute megakaryoblastic leukemia in adult","type":"Clinical subtype"},{"orpha":99887,"name":"Acute megakaryoblastic leukemia in children with Down syndrome","type":"Clinical subtype"},{"orpha":329469,"name":"Acute megakaryoblastic leukemia in children without Down syndrome","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GATA1","name":"GATA binding protein 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"14636651[PMID]","hgnc":"4170","ensembl":"ENSG00000102145","omim":"305371","loci":["Xp11.23"],"via":{"orpha":99887,"name":"Acute megakaryoblastic leukemia in children with Down syndrome"}},{"symbol":"CBFA2T3","name":"CBFA2/RUNX1 partner transcriptional co-repressor 3","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23153540[PMID]","hgnc":"1537","ensembl":"ENSG00000129993","omim":"603870","loci":["16q24.3"],"via":{"orpha":329469,"name":"Acute megakaryoblastic leukemia in children without Down syndrome"}},{"symbol":"GLIS2","name":"GLIS family zinc finger 2","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23153540[PMID]","hgnc":"29450","ensembl":"ENSG00000126603","omim":"608539","loci":["16p13.3"],"via":{"orpha":329469,"name":"Acute megakaryoblastic leukemia in children without Down syndrome"}}],"inheritance":["Not applicable"],"onset":["Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}