{"orpha":517,"name":"Acute myelomonocytic leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AML M4","AMMoL"],"definition":"A rare acute myeloid leukemia disorder characterized by increased blast cells (myeloblasts, monoblast, and/or promonoblasts), representing more than 20% of the total bone marrow (BM) or peripheral blood differential counts, with 20-80% of BM cells being of monocytic lineage. Clinical presentation is the result of bone marrow involvement and extramedullary infiltration by the leukemic cells and includes asthenia, pallor, fever, dizziness, respiratory symptoms, easy bruising, bleeding disorders, and neurological deficits. Gingival hyperplasia, organomegaly, especially hepatosplenomegaly, and lymphadenopathy may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-517/","orphanet_url":"https://www.orpha.net/en/disease/detail/517","names":{"fr":{"name":"Leucémie aiguë myélomonocytaire","synonyms":["AML M4","LAM M4","Leucémie aiguë myélo-monocytaire"],"definition":"Leucémie aiguë myéloïde rare caractérisée par une augmentation du pourcentage de blastes (myéloblastes, monoblastes et/ou promonoblastes), qui représentent plus de 20 % de la numération totale des cellules de la moelle osseuse ou de la formule leucocytaire, avec 20 à 80 % des cellules de la moelle osseuses de lignée monocytaire. La présentation clinique résulte de l'atteinte de la moelle osseuse et de l'infiltration extramédullaire par les cellules leucémiques (asthénie, pâleur, fièvre, vertiges, symptômes respiratoires, tendances aux ecchymoses, hémorragie, déficits neurologiques). Une hyperplasie gingivale, une organomégalie, notamment une hépatospénomégalie, et une lymphadénopathie peuvent également être associées."},"de":{"name":"Myelomonozytenleukämie, akute","synonyms":["AML-M4","AMMoL"],"definition":"Eine seltene akute myeloische Leukämie, die durch eine Vermehrung von Blastenzellen (Myeloblasten, Monoblasten und/oder Promonoblasten) gekennzeichnet ist, die mehr als 20 % der gesamten Knochenmark- (BM) oder peripheren Blutdifferenzialzahlen ausmachen, wobei 20-80 % der BM-Zellen monozytärer Abstammung sind. Die klinische Präsentation ist das Ergebnis der Beteiligung des Knochenmarks und der extramedullären Infiltration durch die leukämischen Zellen und umfasst Asthenie, Blässe, Fieber, Schwindel, respiratorische Symptome, leichte Blutergüsse, Blutungsstörungen und neurologische Defizite. Gingivahyperplasie, Organomegalie (insbesondere Hepatosplenomegalie) und Lymphadenopathie können ebenfalls assoziiert sein."},"es":{"name":"Leucemia mielomonocítica aguda","synonyms":["LMA M4","LMMA"],"definition":"Es un tipo de leucemia mieloide aguda poco frecuente caracterizada por un aumento de células blásticas (mieloblastos, monoblastos y/o promonoblastos) que representa más del 20% del recuento total en la médula ósea (MO) o en sangre periférica, con un 20-80% de células de línea monocítica en MO. La presentación clínica resulta de la afectación de la médula ósea y de la infiltración extramedular por las células leucémicas e incluye astenia, palidez, fiebre, mareos, síntomas respiratorios, propensión a hematomas, trastornos de la coagulación y deficiencias neurológicas. La enfermedad también puede asociarse a hiperplasia gingival, organomegalia, especialmente hepatoesplenomegalia, y a linfadenopatía."},"it":{"name":"Leucemia mielomonocitica acuta","synonyms":["Leucemia acuta mieloblastica, tipo 4"],"definition":"Si tratta di una leucemia mieloide acuta rara, caratterizzata da un aumento dei blasti (mieloblasti, monoblasti e/o promonoblasti), che rappresentano oltre il 20% del totale delle cellule nel midollo osseo o nel sangue periferico, con il 20-80% delle cellule midollari appartenenti alla linea monocitica. Il quadro clinico dipende dall'interessamento del midollo osseo e dall'infiltrazione extramidollare da parte delle cellule leucemiche; comprende l'astenia, il pallore, la febbre, le vertigini, i sintomi respiratori, la tendenza alle ecchimosi, le emorragie e i deficit neurologici. I pazienti possono presentare anche iperplasia delle gengive, organomegalia (in particolare epatosplenomegalia) e linfoadenopatia."},"nl":{"name":"Acute myelomonocytaire leukemie","synonyms":["AML M4","AMMoL"],"definition":"Een zeldzame, acute myeloïde leukemie, gekarakteriseerd door een toename van blastcellen (myeloblasten, monoblasten, en/of promonoblasten), die meer dan 20% van het totaal vertegenwoordigen bij differentiële tellingen van beenmerg (BM) of perifeer bloed, waarbij 20-80% van de cellen in BM van monocytaire oorsprong zijn. De klinische presentatie is het resultaat van betrokkenheid van het beenmerg en extramedullaire infiltratie door de leukemische cellen, en omvat asthenie, bleekheid, koorts, duizeligheid, respiratoire symptomen, snelle kneuzingen, bloedingsstoornissen, en neurologische beperkingen. Hyperplasie van het tandvlees, organomegalie, vooral hepatosplenomegalie, en lymfadenopathie kunnen ook gassocieerd zijn."},"pt":{"name":"Leucemia mielomonocítica aguda","synonyms":["Leucemia mieloblástica aguda tipo 4"],"definition":"Uma leucemia mieloide aguda rara, caracterizada pelo aumento de células blásticas (mieloblastos, monoblastos e/ou promonoblastos), representando mais de 20% do total da medula óssea (MO) ou da contagem diferencial do sangue periférico, sendo que 20-80% das células da MO são de linhagem monocítica. A apresentação clínica resulta do envolvimento da medula óssea e da infiltração extramedular pelas células leucémicas e inclui astenia, palidez, febre, tonturas, sintomas respiratórios, facilidade para hematomas, distúrbios hemorrágicos e défices neurológicos. Hiperplasia gengival, organomegalia, especialmente hepatoesplenomegalia, e linfadenopatia podem também estar associadas."},"pl":{"name":"Ostra białaczka mielomonocytowa","synonyms":["AMMoL","AML M4"]},"cs":{"name":"Akutní myelomonocytární leukémie","synonyms":["AML M4"]},"uk":{"name":"Гострий мієломоноцитарний лейкоз","synonyms":["AML M4","АММОЛ"],"definition":"A rare acute myeloid leukemia disorder characterized by increased blast cells (myeloblasts, monoblast, and/or promonoblasts), representing more than 20% of the total bone marrow (BM) or peripheral blood differential counts, with 20-80% of BM cells being of monocytic lineage. Clinical presentation is the result of bone marrow involvement and extramedullary infiltration by the leukemic cells and includes asthenia, pallor, fever, dizziness, respiratory symptoms, easy bruising, bleeding disorders, and neurological deficits. Gingival hyperplasia, organomegaly, especially hepatosplenomegaly, and lymphadenopathy may also be associated."},"zh":{"name":"急性粒-单核细胞白血病","synonyms":["AML M4"]},"tr":{"name":"Akut miyelomonositik lösemi","synonyms":["AMMoL","AML M4"]}},"xrefs":[{"source":"ICD-10","code":"C92.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A60.33","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1613358778"},{"source":"MONDO","code":"0018871","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015479","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023479","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"529","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10000890","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":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.17,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-03","source":"18508801[PMID]_29491461[PMID]_26185647[PMID]_6577285[PMID]_28371234[PMID]","terms":[{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000168","label":"Abnormality of the gingiva","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Occasional (29-5%)","criteria":null}]}}