{"orpha":102381,"name":"Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor"],"definition":"A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-102381/","orphanet_url":"https://www.orpha.net/en/disease/detail/102381","names":{"fr":{"name":"Leucémie aiguë myéloïde et syndromes myélodysplasiques liés aux inhibiteurs de la topoisomérase II","definition":"Un sous-groupe de néoplasmes myéloïdes liés à la thérapie (NM-t), causés par le traitement d'une maladie néoplasique distincte par des agents cytotoxiques comme l'étoposide, la doxorubicine ou la daunorubicine, entre autres. Les cellules néoplasiques montrent souvent des réarrangements impliquant le gène de la leucémie de lignée mixte <i>11q23</i>. Ce sous-groupe de NM-t est typiquement associé à une leucémie déclarée sans syndrome myélodysplasique antérieur. Il se développe pendant 2-3 ans après l'exposition et se manifeste par des signes non spécifiques liés à une hématopoïèse non efficace (fatigue, saignement et formation d'ecchymoses, infections récurrentes, douleur osseuse) et/ou l'atteinte d'un site extra-médullaire."},"de":{"name":"Akute myeloische Leukämie und myelodysplastische Syndrome durch Topoisomerase Typ II-Inhibitor","synonyms":["AML und MDS durch Topoisomerase Typ II-Inhibitor"],"definition":"Eine Untergruppe der therapiebedingten myeloischen Neoplasien (t-MN), die mit der Behandlung einer nicht verwandten neoplastischen Erkrankung mit zytotoxischen Wirkstoffen wie Etoposid, Doxorubicin, Daunorubicin und anderen einhergeht. Die neoplastischen Zellen zeigen häufig Rearrangements, die das Mixed-Lineage-Leukämie-Gen in 11q23 betreffen. Diese Untergruppe der t-MN ist typischerweise mit einer offenen Leukämie ohne vorausgehendes myelodysplastisches Syndrom assoziiert, die sich 2-3 Jahre nach der Exposition entwickelt und mit unspezifischen Symptomen im Zusammenhang mit ineffektiver Hämatopoese (Müdigkeit, Blutungen und Blutergüsse, rezidivierende Infektionen, Knochenschmerzen) und/oder extramedullärer Beteiligung auftritt."},"es":{"name":"Leucemia mieloide aguda y síndromes mielodisplásicos relacionados con la topoisomerasa tipo 2 inhibidora","synonyms":["LMA y síndromes mielodisplásicos asociados al inhibidor de la topoisomerasa tipo 2"],"definition":"Es un subgrupo de neoplasias mieloides relacionadas con la terapia (t-MN) asociadas con el tratamiento de una enfermedad neoplásica no relacionada mediante agentes citotóxicos tales como etopósido, doxorubicina, daunorubicina y otros. Las células neoplásicas a menudo muestran reordenamientos en 11q23 que implican al gen de leucemia de línea mixta. Este subgrupo de t-MN se asocia típicamente a leucemia manifiesta, sin síndrome mielodisplásico previo, se desarrolla 2-3 años después de la exposición, presentando síntomas inespecíficos relacionados con hematopoesis ineficaz (fatiga, hemorragia y hematomas, infecciones recurrentes, dolor óseo) y/o afectación extramedular."},"it":{"name":"Leucemia mieloide acuta e sindromi mielodisplastiche correlate all'inibitore della topoisomerasi tipo 2","synonyms":["AML e sindromi mielodisplastiche associate all'inibitore della topoisomerasi tipo 2"],"definition":"La leucemia mieloide acuta e le sindromi mielodisplastiche correlate all'inibitore della topoisomerasi tipo 2 sono un sottogruppo di neoplasie mieloidi correlate al trattamento (t-MN) con agenti citotossici (ad esempio etoposide, doxorubicina e daunorubicina) di una neoplasia non correlata. Spesso le cellule neoplastiche mostrano riarrangiamenti che interessano il gene della leucemia a linea cellulare mista in 11q23. Di solito, questo sottogruppo di t-MN si associa alla leucemia conclamata, in assenza di una precedente sindrome mielodisplastica, che insorge 2-3 anni dopo l'esposizione, con sintomi aspecifici secondari ad ematopoiesi inefficace (affaticamento, emorragie ed ecchimosi, infezioni ricorrenti, dolore osseo) e/o a coinvolgimento extramidollare."},"nl":{"name":"Acute myeloïde leukemie en myelodysplastische syndromen gerelateerd aan topoisomerase type 2-remmer","synonyms":["AML en myelodysplastische syndromen gerelateerd aan topoisomerase type 2-remmer"],"definition":"Een subgroep van therapie-gerelateerde myeloïde neoplasma's (t-MN), geassocieerd met behandeling van een niet-gerelateerde neoplastische ziekte met cytotoxische agentia, zoals etoposide, doxorubicine, daunorubicine en andere. De neoplastische cellen vertonen vaak herschikkingen waarbij het <i>mixed lineage leukemia</i>-gen op 11q23 betrokken is. Deze subgroep van t-MN is doorgaans geassocieerd met symptomatische leukemie, zonder voorafgaand myelodysplastisch syndroom, die zich 2-3 jaar na blootstelling ontwikkelt en zich voordoet met niet-specifieke symptomen gerelateerd aan ineffectieve hematopoëse (vermoeidheid, bloeding en kneuzing, terugkerende infecties, botpijn) en/of betrokkenheid van extramedullaire regio's."},"pt":{"name":"Leucemia mielóide aguda e síndromes mielodisplásticos relacionados inibidores das topoisomerases tipo II"},"pl":{"name":"Ostra białaczka szpikowa i zespoły mielodysplastyczne związane z inhibitorem topoizomerazy typu 2","synonyms":["AML i zespoły mielodysplastyczne związane z inhibitorem topoizomerazy typu 2"]},"cs":{"name":"Akutní myeloidní leukémie a myelodysplastický syndrom související s inhibitorem topoisomerázy typu 2","synonyms":["AML a myelodysplastický syndrom související s inhibitorem topoisomerázy typu 2"]},"uk":{"name":"Гострий мієлоїдний лейкоз та мієлодиспластичні синдроми, повязані з інгібітором топоізомерази 2 типу","synonyms":["ГМЛ та мієлодиспластичні синдроми, повязані з інгібітором топоізомерази типу 2"],"definition":"A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement."},"zh":{"name":"拓扑异构酶2型抑制剂相关急性髓系白血病及骨髓增生异常综合征","synonyms":["与拓扑异构酶2型抑制物相关的急性髓系白血病和骨髓增生异常综合征"],"definition":"与拓扑异构酶2型抑制剂相关的急性髓系白血病和骨髓增生异常综合征是与治疗相关的髓系肿瘤(t-MN)的一个亚群，与用细胞毒剂如依托泊苷、阿霉素、柔红霉素等治疗无关的肿瘤疾病有关。肿瘤细胞通常在11q23出现涉及混合系白血病基因的重排。T-MN的这一亚型通常与临床白血病有关，没有骨髓增生异常综合征的先兆，在用药后2-3年内发展，表现出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)和/或髓外部位受累。"},"tr":{"name":"Topoizomeraz tip 2 inhibitörüne bağlı akut miyeloid lösemi ve miyelodisplastik sendromlar","synonyms":["Topoizomeraz tip 2 inhibitörü-ilişkili AML ve miyelodisplastik sendromlar"]}},"xrefs":[{"source":"ICD-10","code":"C92.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A60.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"88207494"},{"source":"MONDO","code":"0015165","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707659","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":86846,"name":"Therapy related acute myeloid leukemia and myelodysplastic syndrome","classifications":[194,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}