{"orpha":98834,"name":"Acute myeloblastic leukemia with maturation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AML M2","Acute myeloblastic leukemia M2"],"definition":"A rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater than or equal to 10% and monocytic cells less than or equal to 20% of the bone marrow cells. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98834/","orphanet_url":"https://www.orpha.net/en/disease/detail/98834","names":{"fr":{"name":"Leucémie myéloblastique aiguë avec maturation","synonyms":["LAM M2","Leucémie myéloblastique aiguë type 2"],"definition":"Leucémie aiguë myéloïde rare caractérisée par des signes de maturation granulocytaire et plus de 20 % de cellules blastiques dans la moelle osseuse et/ou le sang périphérique. Le nombre de granulocytes non blastiques en cours de maturation est supérieur ou égal à 10 % et celui de monocytes est inférieur ou égal à 20 % des cellules de la moelle osseuse. Une anémie, une thrombocytopénie ou une pancytopénie de degrés divers sont présentes. Les manifestations cliniques fréquemment observées sont une fatigue, une fièvre, des troubles de la coagulation et une organomégalie, en particulier une hépatosplénomégalie."},"de":{"name":"Leukämie, akute myeloische, mit Ausreifung","synonyms":["AML M2","Akute myeloische Leukämie M2","LAM M2"]},"es":{"name":"Leucemia mieloblástica aguda con maduración","synonyms":["AML M2","LAM M2","LMA M2","Leucemia mieloblástica aguda M2","Leucemia mielobástica aguda M2"],"definition":"Es una leucemia mieloide aguda poco frecuente caracterizada por evidencia de maduración granulocítica y más de un 20% de células blásticas en médula ósea y/o en sangre periférica. Las células granulocíticas no blásticas en proceso de maduración representan un 10% o más, y las células monocíticas un 20% o menos de las células de la médula ósea. Los afectados presentan además varios grados de anemia, trombocitopenia o pancitopenia. Las manifestaciones clínicas frecuentes incluyen fatiga, fiebre, trastornos de la coagulación y organomegalia, principalmente hepatoesplenomegalia."},"it":{"name":"Leucemia mieloblastica acuta con maturazione","synonyms":["AML M2","Leucemia mieloblastica acuta M2"],"definition":"La leucemia mieloblastica acuta con maturazione è una leucemia mieloide acuta rara, caratterizzata da maturazione granulocitaria, con oltre il 20% di blasti nel midollo osseo e/o nel sangue periferico. I granulociti non-blasti in fase maturativa rappresentano almeno il 10% ed i monociti circa il 20% o meno delle cellule del midollo osseo. I pazienti presentano anemia, trombocitopenia o pancitopenia di grado variabile. I segni clinici più comuni sono l'affaticamento, la febbre, le emorragie e l'organomegalia (in particolare l'epatosplenomegalia)."},"nl":{"name":"Acute myeloblastische leukemie met maturatie","synonyms":["AML M2","Acute myeloblastische leukemie M2"],"definition":"Een zeldzame, acute myeloïde leukemie, gekarakteriseerd door bewijs van granulocytaire maturatie en meer dan 20% blastcellen in beenmerg en/of perifeer bloed. De rijpende niet-blastische granulocyten vertegenwoordigen minstens 10% of meer van de cellen in beenmerg, terwijl het aandeel monocyten ten hoogste 20% bedraagt. Er zijn verschillende gradaties van anemie, trombocytopenie, of pancytopenie aanwezig. Frequente klinische manifestaties zijn onder meer vermoeidheid, koorts, bloedingsstoornissen en organomegalie, voornamelijk hepatosplenomegalie."},"pt":{"name":"Leucemia mieloblástica, aguda, com maturação"},"pl":{"name":"Ostra białaczka mieloblastyczna z cechami dojrzewania","synonyms":["AML M2","LAM M2","Ostra białaczka mieloblastyczna M2"]},"cs":{"name":"Akutní myeloblastická leukémie s vyzráváním","synonyms":["AML M2","Akutní myeloblastická leukémie M2"]},"uk":{"name":"Гострий мієлобластний лейкоз із дозріванням","synonyms":["Гострий мієлобластний лейкоз М2","ГМЛ M2"],"definition":"A rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater than or equal to 10% and monocytic cells less than or equal to 20% of the bone marrow cells. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly."},"zh":{"name":"急性粒细胞白血病部分分化型","synonyms":["M1型急性髓性白血病"],"definition":"该病是一种罕见的急性髓性白血病，骨髓和/或外周血中有超过20%的原始细胞，有成熟粒细胞。成熟的非原始粒细胞占骨髓细胞的比例大于或等于10%，单核细胞占骨髓细胞的比例小于或等于20%。患者存在不同程度的贫血、血小板减少或全血细胞减少，常见的临床表现包括乏力、发热、出血障碍和器官肿大，尤其是肝脾肿大。"},"tr":{"name":"Olgunlaşan akut miyeloblastik lösemi","synonyms":["AML M2","Akut miyeloblastik lösemi M2"]}},"xrefs":[{"source":"ICD-10","code":"C92.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"2A60.32","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1158632967"},{"source":"MONDO","code":"0020320","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1879321","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"527","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":[],"genes":[{"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":"22338050[PMID]","hgnc":"3765","ensembl":"ENSG00000122025","omim":"136351","loci":["13q12.2"]},{"symbol":"KIT","name":"KIT proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Not yet assessed","source":"22338050[PMID]_20425418[PMID]","hgnc":"6342","ensembl":"ENSG00000157404","omim":"164920","loci":["4q12"]},{"symbol":"NPM1","name":"nucleophosmin 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Not yet assessed","source":"22338050[PMID]","hgnc":"7910","ensembl":"ENSG00000181163","omim":"164040","loci":["5q35.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"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}