{"orpha":370026,"name":"Acute myeloid leukemia with t(8;16)(p11;p13) translocation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AML with t(8;16)(p11;p13) translocation"],"definition":"A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found <i>de novo</i> or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370026/","orphanet_url":"https://www.orpha.net/en/disease/detail/370026","names":{"fr":{"name":"Leucémie myéloblastique aiguë associée à une translocation t(8;16)(p11;p13)","definition":"La leucémie myéloblastique aigüe (LMA) associée à une translocation t(8 ;16)(p11 ;p13) est une forme de LMA dans laquelle cette anomalie chromosomique est trouvée <i>de novo</i>, ou dans des cas de LMA associée à un traitement. Elle se caractérise par une atteinte extra-médullaire fréquente (surtout une hépatomégalie, une splénomégalie, des lymphadénopathies, une infiltration cutanée, mais aussi une atteinte des gencives, du système nerveux central et des testicules), un trouble sévère de la coagulation (coagulopathie intravasculaire disséminé ou fibrinolyse primaire) et un mauvais pronostic. Sur le plan morphologique, on observe une population de blastes présentant un stade de différenciation myélomonocytaire."},"de":{"name":"Akute myeloische Leukämie mit Translokation t(8;16)(p11;p13)","synonyms":["AML mit Translokation t(8;16)(p11;p13)"]},"es":{"name":"Leucemia mieloide aguda con translocación t(8;16)(p11;p13)","synonyms":["LMA con translocación t(8;16)(p11;p13)"],"definition":"Es una variante de LMA en la que esta anomalía cromosómica se encuentra de <i>de novo</i> o cuya aparición está relacionada con la terapia para la LMA. Se caracteriza por frecuente afectación extramedular (principalmente hepatomegalia, esplenomegalia, linfadenopatías e infiltración cutánea, pero también se ha descrito afectación de encías, huesos, sistema nervioso central y testículos), trastorno grave de la coagulación (coagulopatía intravascular diseminada o fibrinólisis primaria) y pronóstico desfavorable. Morfológicamente, se observa una población de blastos en estadío de diferenciación mielomonocítica."},"it":{"name":"Leucemia mieloide acuta con traslocazione t(8;16)(p11;p13)","synonyms":["AML con traslocazione t(8;16)(p11;p13)"],"definition":"La leucemia mieloide acuta (LMA) con traslocazione t(8;16)(p11;p13) è una forma di LMA nella quale la traslocazione cromosomica origina de novo oppure è correlata al trattamento; è caratterizzata spesso da un interessamento extramidollare (prevalentemente epatomegalia, splenomegalia, linfoadenopatie, infiltrazione cutanea, interessamento delle gengive, delle ossa, del sistema nervoso centrale e dei testicoli), gravi difetti della coagulazione (coagulopatia intravascolare disseminata o fibrinolisi primaria) e prognosi sfavorevole. Dal punto di vista morfologico, è presente una popolazione di blasti con un grado di differenziamento mielomonocitico."},"nl":{"name":"Acute myeloïde leukemie met t(8;16)(p11;p13) translocatie","synonyms":["AML met t(8;16)(p11;p13) translocatie"],"definition":"Een aparte vorm van AML waarbij deze chromosomale anomalie <i>de novo</i> wordt aangetroffen of die voorkomt bij therapie-gerelateerde gevallen van AML, en die gekarakteriseerd wordt door frequente extramedullaire betrokkenheid (vooral hepatomegalie, splenomegalie, lymfadenopathie, cutane infiltratie, maar ook betrokkenheid van tandvlees, bot, centraal zenuwstelsel, testes), ernstige coagulatiestoornis (diffuse intravasale stolling of primaire fibrinolyse) en slechte prognose. Morfologisch wordt een populatie van blastcellen in een myelomonocytisch stadium van differentiatie waargenomen."},"pt":{"name":"Leucemia mielóide aguda com translocação t(8;16)(p11;p13)"},"pl":{"name":"Ostra białaczka szpikowa z translokacją t(8;16)(p11;p13)","synonyms":["AML z translokacją t(8;16)(p11;p13)"]},"cs":{"name":"Akutní myeloidní leukémie s translokací t(8;16)(p11;p13)","synonyms":["AML s translokací t(8;16)(p11;p13)"]},"uk":{"name":"Гостра мієлоїдна лейкемія з транслокацією t(8;16)(p11;p13)","synonyms":["АМЛ з транслокацією t(8;16)(p11;p13)"],"definition":"A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found <i>de novo</i> or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed."},"zh":{"name":"急性髓系白血病伴t(8;16)(p11;p13)易位","synonyms":["AML伴t(8;16)(p11;p13)易位"],"definition":"本病是急性髓系白血病(AML)的一种独特形式，本病的染色体异常常是在新发或治疗相关的AML病例中被发现，其特征为频繁的髓外受累(主要是肝肿大、脾肿大、淋巴结病、皮肤浸润，但也包括牙龈、骨、中枢神经系统、睾丸受累)、严重的凝血障碍(弥散性血管内凝血病或原发性纤维蛋白溶解)和预后不良。形态学上可观察到一个具有粒单核细胞分化阶段的原始群体。"},"tr":{"name":"t(8; 16) (p11; p13) translokasyon ile seyreden akut miyeloid lösemi","synonyms":["t(8; 16) (p11; p13) translokasyonu 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":"attributed","validated":true},{"source":"MONDO","code":"0018256","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511003","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":"CREBBP","name":"CREB binding lysine acetyltransferase","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23974201[PMID]_18698081[PMID]","hgnc":"2348","ensembl":"ENSG00000005339","omim":"600140","loci":["16p13.3"]},{"symbol":"KAT6A","name":"lysine acetyltransferase 6A","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23974201[PMID]_18698081[PMID]","hgnc":"13013","ensembl":"ENSG00000083168","omim":"601408","loci":["8p11.21"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"23974201[PMID]"}],"phenotypes":null}