{"orpha":402026,"name":"Acute myeloid leukemia with NPM1 somatic mutations","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AML with NPM1 somatic mutations"],"definition":"A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. The disease is characterized by clonal proliferation of myeloid blasts harboring mutations of the <i>NPM1</i> gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-402026/","orphanet_url":"https://www.orpha.net/en/disease/detail/402026","names":{"fr":{"name":"Leucémie myéloïde aiguë associée à des mutations somatiques de NPM1","definition":"La leucémie myéloïde aigüe associée à des mutations somatiques de NPM1 est un sous-type de leucémie myéloïde aigüe avec des anomalies génétiques récurrentes, caractérisé par une prolifération clonale de blastes myéloïdes porteurs de mutations du gène <i>NPM1</i> dans la moelle osseuse, le sang et d'autres tissus. Elle est associée à une dysplasie multinignée, impliquant les lignées cellulaires myéloïdes, monocytaires, érythroïdes et mégakaryocytaire. Les patients présentent habituellement une leucocytose, une thrombocytose et des signes non spécifiques liés à une hématopoïèse inefficace (fatigue, saignement et hématomes, infections récurrentes, douleur osseuse), associés à une atteinte extramédullaire fréquente se présentant typiquement par une hyperplasie gingivale et une lymphadénopathie."},"de":{"name":"Akute myeloische Leukämie mit somatischen NPM1-Genmutationen","synonyms":["AML mit somatischen NPM1-Genmutationen"],"definition":"Die akute myeloische Leukämie mit somatischen <i>NPM1</i>-Mutationen ist ein Subtyp der akuten myeloischen Leukämie mit wiederkehrenden genetischen Anomalien, die durch die klonale Proliferation von myeloischen Blasten mit Mutationen des <i>NPM1</i>-Gens im Knochenmark, Blut und anderen Geweben gekennzeichnet sind. Sie ist mit Multilineage-Dysplasie verbunden, an der die myeloischen, monozytischen, erythroiden und megakaryozytären Zelllinien beteiligt sind. Die Patienten präsentieren sich in der Regel mit einer Leukozytose, Thrombozytose und unspezifischen Symptomen im Zusammenhang mit einer unzureichenden Hämatopoese (Müdigkeit, Blutungen und Blutergüsse, wiederkehrende Infektionen, Knochenschmerzen) mit häufiger extramedullärer Beteiligung, die sich typischerweise als gingivale Hyperplasie und Lymphadenopathie manifestiert."},"es":{"name":"Leucemia mieloide aguda con mutaciones somáticas en el gen NPM1","synonyms":["LMA con mutaciones somáticas en el gen NPM1"],"definition":"Es un subtipo de leucemia mieloide aguda con anomalías genéticas recurrentes caracterizada por la proliferación clonal de blastos mieloides portadores de mutaciones en el gen <i>NPM1</i> en médula ósea, sangre y otros tejidos. Está asociada con displasia multilínea, con implicación de las líneas celulares mieloide, monocítica, eritroide y megacariocítica. Por lo general, los afectados se presentan con leucocitosis, trombocitosis y síntomas inespecíficos relacionados con la hematopoyesis ineficaz (fatiga, sangrado y hematomas, infecciones recurrentes, dolor óseo) y con frecuente afectación extramedular manifestándose típicamente como hiperplasia gingival y linfadenopatía."},"it":{"name":"Leucemia mieloide acuta con mutazioni somatiche di NPM1","synonyms":["AML con mutazioni somatiche di NPM1"],"definition":"La leucemia mieloide acuta con mutazioni somatiche nel gene NPM1 è un sottotipo di leucemia mieloide acuta con anomalie genetiche ricorrenti; è caratterizzata dalla proliferazione clonale di mieloblasti che presentano mutazioni del gene NPM1 nel midollo osseo, nel sangue e in altri tessuti. La malattia si associa alla displasia multilinea, che interessa la linea cellulare mieloide, monocitica, eritroide e megacariocitica. Di solito i pazienti presentano leucocitosi, trombocitosi e sintomi aspecifici secondari all'ematopoiesi inefficace (affaticamento, emorragie ed ecchimosi, infezioni ricorrenti, dolore osseo), spesso con interessamento extramidollare che in genere si manifesta con iperplasia gengivale e linfoadenopatia."},"nl":{"name":"Acute myeloïde leukemie met somatische NPM1-mutaties","synonyms":["AML met somatische NPM1-mutaties"],"definition":"Een subtype van acute myeloïde leukemie met terugkerende genetische afwijkingen, gekarakteriseerd door leukocytose, trombocytose en niet-specifieke symptomen gerelateerd aan ineffectieve hematopoëse (vermoeidheid, bloedingen en kneuzingen, terugkerende infecties, botpijn), met frequente extra-medullaire betrokkenheid die zich typisch manifesteert als gingivale hyperplasie en lymfadenopathie. De ziekte wordt gekenmerkt door klonale proliferatie van myeloïde blastcellen met mutaties in het gen <i>NPM1</i> in beenmerg, bloed en andere weefsels. Het is geassocieerd met multilineaire dysplasie waarbij de myeloïde, monocytische, erytroïde en megakaryocytische cellijnen betrokken zijn."},"pt":{"name":"Leucemia mielóide aguda com mutações somáticas NPM1"},"pl":{"name":"Ostra białaczka szpikowa z somatycznymi mutacjami NPM1","synonyms":["AML z somatycznymi mutacjami NPM1"]},"cs":{"name":"Akutní myeloidní leukémie se somatickými mutacemi v genu NPM1","synonyms":["AML se somatickými mutacemi v genu NPM1"]},"uk":{"name":"Гостра мієлоїдна лейкемія з соматичними мутаціями NPM1","synonyms":["ГМЛ з соматичними мутаціями NPM1"],"definition":"A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. The disease is characterized by clonal proliferation of myeloid blasts harboring mutations of the <i>NPM1</i> gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages."},"zh":{"name":"急性髓系白血病伴NPM1体细胞突变","synonyms":["AML伴NPM1体细胞突变"],"definition":"急性髓细胞性白血病的一种亚型，具有反复出现的遗传异常，其特征是白细胞增多，血小板增多和与无效造血相关的非特异性症状（疲劳，出血和瘀伤，反复感染，骨痛），并经常累及髓外，通常表现为牙龈增生和淋巴结肿大。该疾病的特征是在骨髓，血液和其他组织中克隆增殖的髓母细胞带有 NPM1 基因突变。它与多系发育异常有关，涉及髓样，单核，红系和巨核细胞谱系。"},"tr":{"name":"NPM1 somatik mutasyon ile seyreden akut miyeloid lösemi","synonyms":["NPM1 somatik mutasyonlu AML"]}},"xrefs":[{"source":"ICD-10","code":"C92.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A60.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1617322056"},{"source":"ICD-11","code":"XH74W8","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1772692988"},{"source":"MONDO","code":"0018437","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706386","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98277,"name":"Acute myeloid leukemia with recurrent genetic anomaly","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"NPM1","name":"nucleophosmin 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"19357394[PMID]_23301224[PMID]","hgnc":"7910","ensembl":"ENSG00000181163","omim":"164040","loci":["5q35.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}