{"orpha":402014,"name":"Acute myeloid leukemia with t(6;9)(p23;q34)","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AML with t(6;9)(p23;q34)"],"definition":"A rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-402014/","orphanet_url":"https://www.orpha.net/en/disease/detail/402014","names":{"fr":{"name":"Leucémie myéloïde aiguë associée à t(6;9)(p23;q34)","definition":"La leucémie myéloïde aigüe associée à t(6 ;9)(p23 ;q34) est un sous-type rare de leucémie myéloïde aigüe avec des anomalies génériques récurrentes. Elle se caractérisée par une prolifération clonale de myéloblastes peu différenciés dans la moelle osseuse, le sang et d'autres tissus, chez des patients présentant une translocation t(6;9)(p23;q34). Elle est souvent associée à une dysplasie multilignée de la moelle osseuse et se manifeste habituellement par une anémie, une thrombocytopénie (souvent une pancytopénie) et par d'autres signes non spécifiques liés à une hématopoïèse inefficace (fatigue, saignement et ecchymoses, infections récurrentes, douleur osseuse), et/ou une atteinte extra-médullaire (gingivite, splénomégalie). Une basophilie a été rapportée, ainsi qu'une faible réponse à la chimiothérapie."},"de":{"name":"Akute myeloische Leukämie mit t(6;9)(p23;q34)","synonyms":["AML mit t(6;9)(p23;q34)"],"definition":"Ein seltener Subtyp der akuten myeloischen Leukämie mit rezidivierenden genetischen Anomalien, der durch klonale Proliferation schlecht differenzierter myeloischer Blasten im Knochenmark, Blut oder anderen Geweben bei Patienten gekennzeichnet ist, die eine t(6;9)(p23;q34)-Translokation aufweisen. Sie geht häufig mit einer multilineären Knochenmarkdysplasie einher und präsentiert sich in der Regel mit Anämie, Thrombozytopenie (oft Panzytopenie) und anderen unspezifischen Symptomen im Zusammenhang mit einer ineffektiven Hämatopoese (Müdigkeit, Blutungen und Blutergüsse, rezidivierende Infektionen, Knochenschmerzen) und/oder einer Beteiligung extramedullärer Areale (Gingivitis, Splenomegalie). Es wurde über Basophilie sowie schlechtes Ansprechen auf eine Chemotherapie berichtet."},"es":{"name":"Leucemia mieloide aguda con t(6;9)(p23;q34)","synonyms":["LMA con t(6;9)(p23;q34)"],"definition":"Es un subtipo poco frecuente de leucemia mieloide aguda con anomalías genéticas recurrentes caracterizada por la proliferación clonal de mieloblastos pobremente diferenciados en la medula ósea, sangre u otros tejidos en pacientes que presentan la translocación t(6;9)(p23;q34). Frecuentemente se asocia con displasia multilínea de la médula ósea y por lo habitual se presenta con anemia, trombocitopenia (a menudo pancitopenia) y otros síntomas inespecíficos asociados a la hematopoyesis ineficaz (fatiga, sangrado y hematomas, infecciones recurrentes, dolor óseo) y/o afectación extramedular (gingivitis, esplenomegalia). También se ha descrito la presencia de basofilia, así como una pobre respuesta a la quimioterapia."},"it":{"name":"Leucemia mieloide acuta con t(6;9)(p23;q34)","synonyms":["AML con t(6;9)(p23;q34)"],"definition":"La leucemia mieloide acuta con t(6;9)(p23;q34) è un sottotipo raro di leucemia mieloide acuta con anomalie genetiche ricorrenti; è caratterizzata dalla proliferazione clonale di mieloblasti scarsamente differenziati nel midollo osseo, nel sangue o in altri tessuti nei pazienti che presentano la traslocazione t(6;9)(p23;q34). Spesso si associa alla displasia multilinea del midollo osseo e di solito esordisce con anemia, trombocitopenia (spesso pancitopenia) e altri sintomi aspecifici causati da un'ematopoiesi inefficace (affaticamento, emorragie e formazione di ecchimosi, infezioni ricorrenti, dolori ossei) e/o dall'interessamento extramidollare (gengivite, splenomegalia). Sono state descritte anche la basofilia e la limitata risposta alla chemioterapia."},"nl":{"name":"Acute myeloïde leukemie met t(6;9)(p23;q34)","synonyms":["AML met t(6;9)(p23;q34)"],"definition":"Een zeldzaam subtype van acute myeloïde leukemie met terugkerende genetische afwijkingen, gekarakteriseerd door klonale proliferatie van weinig gedifferentieerde myeloïde blastcellen in beenmerg, bloed of andere weefsels, bij patiënten met de translocatie t(6;9)(p23;q34). De ziekte is vaak geassocieerd met multilineaire beenmergdysplasie en presenteert zich meestal met anemie, trombocytopenie (vaak pancytopenie), en andere niet-specifieke symptomen gerelateerd aan ineffectieve hematopoëse (vermoeidheid, bloedingen en kneuzingen, terugkerende infecties, botpijn) en/of betrokkenheid van extramedullaire plaatsen (gingivitis, splenomegalie). Basofilie, alsook een povere respons op chemotherapie, werden ook reeds gerapporteerd."},"pt":{"name":"Leucemia mielóide aguda com t(6;9)(p23;q34)"},"pl":{"name":"Ostra białaczka szpikowa z t(6;9)(p23;q34)","synonyms":["AML z t(6;9)(p23;q34)"]},"cs":{"name":"Akutní myeloidní leukémie s t(6;9)(p23;q34)","synonyms":["AML s t(6;9)(p23;q34)"]},"uk":{"name":"Гостра мієлоїдна лейкемія з t(6;9)(p23;q34)","synonyms":["AML з t(6;9)(p23;q34)"],"definition":"A rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported."},"zh":{"name":"急性髓系白血病伴t(6;9)(p23;q34)变异","synonyms":["AML伴t(6;9)(p23;q34)"],"definition":"罕见的急性髓性白血病亚型，具有反复发作的遗传性畸形，其特征是血液、骨髓或其他组织中低分化的髓母细胞的克隆增殖，存在t（6; 9）（p23; q34）易位的患者中。它经常与骨髓多系异常增生相关，通常表现为贫血，血小板减少症（通常是全血细胞减少症）和其他与无效造血相关的非特异性症状包括（疲劳，出血和瘀伤，反复感染，骨痛）和/或髓外受累（牙龈炎，脾肿大）。 嗜碱性粒细胞增多。对化疗的反应较差。"},"tr":{"name":"t(6; 9) (p23; q34) ile seyreden akut miyeloid lösemi","synonyms":["t(6; 9)(p23; q34) ile seyreden 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":"1512142924"},{"source":"MONDO","code":"0018433","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518837","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":"DEK","name":"DEK proto-oncogene","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"19357394[PMID]","hgnc":"2768","ensembl":"ENSG00000124795","omim":"125264","loci":["6p22.3"]},{"symbol":"NUP214","name":"nucleoporin 214","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"19357394[PMID]","hgnc":"8064","ensembl":"ENSG00000126883","omim":"114350","loci":["9q34.13"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}