{"orpha":86845,"name":"Acute myeloid leukaemia with myelodysplasia-related features","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AML with multilineage dysplasia","AML with myelodysplasia-related features","Acute myeloid leukemia with multilineage dysplasia"],"definition":"A rare acute myeloid leukemia (AML) characterized by the presence of acute leukemia with at least 20% peripheral blood or bone marrow blasts with morphological features of myelodysplasia, or occurrence in patients with a prior history of a myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasm, with MDS-related cytogenetic abnormalities, in the absence of specific genetic abnormalities characteristic of AML with recurrent genetic abnormalities. Prior cytotoxic or radiation therapy for an unrelated disease must be excluded. The condition occurs mainly in elderly patients and is rare in children. Patients often present with severe pancytopenia. Prognosis is generally poor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86845/","orphanet_url":"https://www.orpha.net/en/disease/detail/86845","names":{"fr":{"name":"Leucémies aiguës myéloïdes avec anomalies liées aux myélodysplasies","synonyms":["LAM avec anomalies liées aux myélodysplasies","LAM avec dysplasie multilignée","Leucémie aiguë myéloïde avec dysplasie multilignée"],"definition":"Leucémie aiguë myéloïde (LAM) rare caractérisée par la présence d'une leucémie aiguë avec au moins 20 % de blastes dans le sang périphérique ou dans la moelle osseuse présentant des caractéristiques morphologiques de myélodysplasie, ou survenant chez des patients ayant des antécédents de syndrome myélodysplasique (SMD) ou de néoplasme myélodysplasique/myéloprolifératif, s'accompagnant d'anomalies cytogénétiques liées au SMD, et en l'absence d'anomalies génétiques spécifiques caractéristiques de la LAM et en présence d'anomalies génétiques récurrentes. Il convient d'écarter toute thérapie cytotoxique ou radiothérapie antérieure pour une maladie non apparentée. La maladie se manifeste principalement chez les personnes âgées et rarement chez les enfants. Les patients présentent souvent une pancytopénie sévère. Le pronostic est généralement défavorable."},"de":{"name":"Akute myeloische Leukämie mit Myelodysplasie-assoziierten Veränderungen","synonyms":["AML mit Myelodysplasie-assoziierten Veränderungen","AML mit multilineärer Dysplasie","Leukämie, akute myeloische, mit multilineärer Dysplasie"],"definition":"Eine seltene akute myeloische Leukämie (AML), die durch das Vorhandensein einer akuten Leukämie mit mindestens 20 % Blasten im peripheren Blut oder im Knochenmark mit morphologischen Merkmalen einer Myelodysplasie gekennzeichnet ist oder bei Patienten mit einer Vorgeschichte eines myelodysplastischen Syndroms (MDS) oder eines myelodysplastischen/myeloproliferativen Neoplasmas mit MDS-bezogenen zytogenetischen Anomalien auftritt, ohne dass spezifische genetische Anomalien vorliegen, die für eine AML mit wiederkehrenden genetischen Anomalien charakteristisch sind. Eine vorherige zytotoxische oder Strahlentherapie wegen einer nicht verwandten Krankheit muss ausgeschlossen sein. Die Erkrankung tritt hauptsächlich bei älteren Patienten auf und ist bei Kindern selten. Die Patienten weisen häufig eine schwere Panzytopenie auf. Die Prognose ist im Allgemeinen schlecht."},"es":{"name":"Leucemia mieloide aguda con características relacionadas con la mielodisplasia","synonyms":["LMA con características mielodisplásicas","LMA con displasia multilíneal","Leucemia mieloide aguda con displasia multilineal"],"definition":"Es una leucemia mieloide aguda (LMA) poco frecuente caracterizada por la presencia de leucemia aguda con al menos un 20% de blastos en sangre periférica o médula ósea con características morfológicas de mielodisplasia, o ocurrencia en pacientes con antecedentes de síndrome mielodisplásico (SMD) o mielodisplásico/ neoplasia mieloproliferativa, con anomalías citogenéticas relacionadas con SMD, en ausencia de anomalías genéticas específicas características de la LMA con anomalías genéticas recurrentes. Debe excluirse la radioterapia o terapia citotóxica previa para una enfermedad no relacionada. La afección ocurre principalmente en pacientes de edad avanzada y es muy infrecuente en niños. Los pacientes suelen presentar pancitopenia grave. Por lo general, el pronóstico es desfavorable."},"it":{"name":"Leucemia mieloide acuta con caratteristiche correlate alla mielodisplasia","synonyms":["AML con displasia multilineare"],"definition":"Si tratta di una leucemia mieloide acuta (LMA) rara, caratterizzata dalla presenza di una leucemia acuta con almeno il 20% di blasti nel sangue periferico o nel midollo osseo con caratteristiche morfologiche della mielodisplasia, oppure che insorge nei pazienti con un'anamnesi positiva per la sindrome mielodisplastica (MDS) o per una neoplasia mielodisplastica/mieloproliferativa, con anomalie citogenetiche correlate alla MDS, in assenza di anomalie genetiche specifiche caratteristiche della LMA con anomalie genetiche ricorrenti. È necessario escludere una precedente terapia citotossica o una radioterapia per una malattia non correlata. La malattia colpisce per lo più gli anziani ed è rara nei bambini. I pazienti presentano spesso una grave pancitopenia. Di solito la prognosi è sfavorevole."},"nl":{"name":"Acute myeloïde leukemie met myelodysplasie-gerelateerde kenmerken","synonyms":["AML met multilineaire dysplasie","AML met myelodysplasie-gerelateerde kenmerken","Acute myeloïde leukemie met dysplasie van meerdere cellijnen","Acute myeloïde leukemie met multilineaire dysplasie"],"definition":"Een zeldzame acute myeloïde leukemie (AML), gekarakteriseerd door de aanwezigheid van acute leukemie met minstens 20% blasten in perifeer bloed of beenmerg met morfologische kenmerken van myelodysplasie, of optreden bij patiënten met een voorgeschiedenis van myelodysplastisch syndroom (MDS) of myelodysplastisch/myeloproliferatief neoplasma, met MDS-gerelateerde cytogenetische afwijkingen, in afwezigheid van specifieke genetische afwijkingen die kenmerkend zijn voor AML met recidiverende genetische afwijkingen. Voorafgaande cytotoxische therapie of stralingstherapie voor een niet-gerelateerde ziekte dient uitgesloten te worden. De aandoening komt vooral voor bij oudere patiënten en is zeldzaam bij kinderen. Patiënten vertonen vaak ernstige pancytopenie. De prognose is doorgaans slecht."},"pt":{"name":"Leucemia mielóide aguda com características mielodisplasia-relacionadas","synonyms":["Leucemia mielóide aguda com displasia multilinear"]},"pl":{"name":"Ostra białaczka szpikowa z dysplazją wieloliniową","synonyms":["AML z dysplazją wieloliniową"]},"cs":{"name":"Akutní myeloidní leukémie s dysplázií více linií","synonyms":["AML s dysplázií více krevních linií"]},"uk":{"name":"Гостра мієлоїдна лейкемія з ознаками мієлодисплазії","synonyms":["Гостра мієлоїдна лейкемія з мультилінійною дисплазією","ГМЛ з мультилінійною дисплазією","ГМЛ з ознаками мієлодисплазії"],"definition":"A rare acute myeloid leukemia (AML) characterized by the presence of acute leukemia with at least 20% peripheral blood or bone marrow blasts with morphological features of myelodysplasia, or occurrence in patients with a prior history of a myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasm, with MDS-related cytogenetic abnormalities, in the absence of specific genetic abnormalities characteristic of AML with recurrent genetic abnormalities. Prior cytotoxic or radiation therapy for an unrelated disease must be excluded. The condition occurs mainly in elderly patients and is rare in children. Patients often present with severe pancytopenia. Prognosis is generally poor."},"zh":{"name":"急性髓性白血病伴骨髓发育不良特征","synonyms":["急性髓系白血病伴多系发育不良"]},"tr":{"name":"Miyelodisplazi-ilişkili özellikler ile seyreden akut miyeloid lösemi","synonyms":["Çoklu kökenli displazili AML","Miyelodisplazi ilişkili özelliklere sahip AML","Çoklu kökenli displazili akut miyeloid lösemi"]}},"xrefs":[{"source":"OMIM","code":"601626","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C92.8","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A60.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1235412948"},{"source":"MONDO","code":"0019456","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1292773","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12761","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":519,"name":"Acute myeloid leukemia","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"ASXL1","name":"ASXL transcriptional regulator 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"28297624[PMID]","hgnc":"18318","ensembl":"ENSG00000171456","omim":"612990","loci":["20q11.21"]},{"symbol":"DNMT3A","name":"DNA methyltransferase 3 alpha","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"28297624[PMID]","hgnc":"2978","ensembl":"ENSG00000119772","omim":"602769","loci":["2p23.3"]},{"symbol":"IDH1","name":"isocitrate dehydrogenase (NADP(+)) 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"28297624[PMID]","hgnc":"5382","ensembl":"ENSG00000138413","omim":"147700","loci":["2q34"]},{"symbol":"IDH2","name":"isocitrate dehydrogenase (NADP(+)) 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"28297624[PMID]","hgnc":"5383","ensembl":"ENSG00000182054","omim":"147650","loci":["15q26.1"]},{"symbol":"TET2","name":"tet methylcytosine dioxygenase 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Not yet assessed","source":"19557078[PMID]","hgnc":"25941","ensembl":"ENSG00000168769","omim":"612839","loci":["4q24"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}