{"orpha":514,"name":"Acute monoblastic/monocytic leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AML M5","Acute monoblastic or monocytic leukemia"],"definition":"A form of acute myeloid leukemia that is either comprised of more than 80% of monoblasts or 30-80% monoblasts with (pro)monocytic differentiation. It presents with asthenia, pallor, fever, and dizziness. Specific features include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed is t(9;11).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-514/","orphanet_url":"https://www.orpha.net/en/disease/detail/514","names":{"fr":{"name":"Leucémie aiguë monoblastique/monocytaire","synonyms":["AML M5","LAM M5","Leucémie aiguë myéloblastique type 5"],"definition":"Forme de leucémie aiguë myéloïde caractérisée par la présence de plus de 80 % de monoblastes ou de 30 à 80 % de monoblastes différenciés en monocytes/promonocytes. Elle se manifeste par une asthénie, une pâleur, une fièvre et des vertiges. Les signes cliniques spécifiques sont une hyperleucocytose, une prédisposition aux infiltrats extramédullaires, des troubles de la coagulation, y compris la coagulation intravasculaire disséminée, et des maladies neurologiques. Une leucémie cuticulaire et une infiltration gingivale peuvent être associées. La translocation t(9;11) est caractéristique de la maladie."},"de":{"name":"Leukämie, akute monoblastische","synonyms":["AML-M5","Leukämie, akute monozytäre","Leukämie, akute myeloische, Typ 5","Monoblastenleukämie"],"definition":"Eine Form der akuten myeloischen Leukämie, die entweder zu mehr als 80 % aus Monoblasten oder zu 30-80 % aus Monoblasten mit (pro)monozytärer Differenzierung besteht. Sie äußert sich in Asthenie, Blässe, Fieber und Schwindel. Zu den spezifischen Merkmalen gehören Hyperleukozytose, Neigung zu extramedullären Infiltraten, Gerinnungsstörungen einschließlich disseminierter intravasaler Gerinnung und neurologische Störungen. Auch eine Leukämie cutis und eine gingivale Infiltration können beobachtet werden. Eine charakteristische beobachtete Translokation ist t(9;11)."},"es":{"name":"Leucemia monoblástica aguda","synonyms":["Leucemia mieloblástica aguda tipo 5","Leucemia monocítica aguda","MLA-M5"],"definition":"Es una forma de leucemia mieloide aguda (AML) que se caracteriza por presentar más de un 80% de monoblastos o 30-80% de monoblastos con diferenciación (pro)monocítica. Este tipo de leucemia se presenta con astenia, palidez, fiebre y mareos. Los hallazgos específicos incluyen hiperleucocitosis, propensión a la infiltración extramedular, anomalías de la coagulación, incluyendo la coagulación intravascular diseminada, y trastornos neurológicos. También se ha descrito leucemia cutis e infiltración gingival. Se ha descrito una translocación t (9; 11) característica."},"it":{"name":"Leucemia monoblastica acuta","synonyms":["AML-M5","Leucemia acuta mieloblastica, tipo 5","Leucemia mieloblastica acuta, tipo 5","Leucemia monocitica acuta"],"definition":"La leucemia monoblastica acuta (AML-M5) è uno dei sottotipi più comuni della leucemia mieloide acuta (AML; si veda questo termine). È caratterizzata per oltre l'80% da monoblasti (AML-M5a) oppure per il 30-80% da monoblasti a differenziazione (pro)monocitica (AML-M5b). L'AML-M5 esordisce con astenia, pallore, febbre e vertigini. I segni clinici specifici della AML-M5 comprendono l'iperleucocitosi, la predisposizione agli infiltrati extra-midollari, le anomalie della coagulazione, compresa la coagulazione intravascolare disseminata e le malattie neurologiche. Possono associarsi la leucemia cutanea e l'infiltrazione delle gengive. Una traslocazione caratteristica della AML-M5 è t(9;11)."},"nl":{"name":"Acute monoblastische leukemie","synonyms":["AML M5","Acute monocytaire leukemie"],"definition":"Een vorm van acute myeloïde leukemie, bestaande uit meer dan 80% monoblasten of uit 30-80% monoblasten met (pro)monocytische differentiatie. Het presenteert zich met asthenie, bleekheid, koorts en duizeligheid. Specifieke kenmerken zijn hyperleukocytose, aanleg voor extramedullaire infiltraten, coagulatiestoornissen waaronder gedissemineerde intravasculaire coagulatie, en neurologische stoornissen. Leukemia cutis en gingivale infiltratie kunnen ook waargenomen worden. Een typische translocatie die wordt waargenomen is t(9;11)."},"pt":{"name":"Leucemia monoblástica/monocítica aguda","synonyms":["Leucemia mieloblástica aguda tipo 5"],"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 monoblastyczna","synonyms":["AML-M5","Ostra białaczka mieloblastyczna typu 5","Ostra białaczka monocytowa"],"definition":"Postać ostrej białaczki szpikowej, w której rozmaz krwi zawiera ponad 80% monoblastów lub 30-80% monoblastów z różnicowaniem (pro)monocytowym. Objawia się osłabieniem, bladością, gorączką i zawrotami głowy. Specyficzne cechy obejmują hiperleukocytozę, skłonność do nacieków pozaszpikowych, zaburzenia krzepnięcia, w tym rozsiane wykrzepianie wewnątrznaczyniowe i zaburzenia neurologiczne. Widoczne są również nacieki białaczkowe w skórze i dziąsłach. Charakterystyczna translokacja to t(9;11)."},"cs":{"name":"Akutní monoblastická leukémie","synonyms":["AML M5","Akutní monocytární leukémie"]},"uk":{"name":"Гостра монобластна/моноцитарна лейкемія","synonyms":["Гострий монобластний або моноцитарний лейкоз","AML M5"],"definition":"A form of acute myeloid leukemia that is either comprised of more than 80% of monoblasts or 30-80% monoblasts with (pro)monocytic differentiation. It presents with asthenia, pallor, fever, and dizziness. Specific features include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed is t(9;11)."},"zh":{"name":"急性单核细胞白血病","synonyms":["急性单核细胞白血病"]},"tr":{"name":"Akut monoblastik / monositik lösemi","synonyms":["AML M5","Akut monoblastik veya monositik lösemi"]}},"xrefs":[{"source":"ICD-10","code":"C93.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A60.34","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"517546180"},{"source":"MONDO","code":"0007896","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"7896","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007948","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3831784","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"525","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":["Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-22","source":"29417354[PMID]_30524762[PMID]_30631409[PMID]_28658145[PMID]_27884836[PMID]_28642361[PMID]","terms":[{"hpo":"HP:0004845","label":"Acute monocytic leukemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031020","label":"Bone marrow hypercellularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100827","label":"Lymphocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012145","label":"Abnormality of multiple cell lineages in the bone marrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001785","label":"Ankle swelling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011787","label":"Central hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025289","label":"Cervical lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001931","label":"Hypochromic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100520","label":"Oliguria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100539","label":"Periorbital edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001730","label":"Progressive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}