{"orpha":102724,"name":"Acute myeloid leukemia with t(8;21)(q22;q22) translocation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AML with t(8;21)(q22;q22) translocation"],"definition":"A rare acute myeloid leukemia with recurrent genetic anomaly disorder characterized by a t(8;21)(q22;q22) balanced translocation cytogenetic abnormality, forming a RUNX1-RUNX1T1 fusion gene, presenting with morphological characteristics which include myeloblasts with indented nuclei, basophilic cytoplasm with a prominent paranuclear hof that may contain a few azurophilic granules, prominent and possibly large promyelocytes, myelocytes and metamyelocytes, easily identifiable Auer rods and, more variably, bone marrow eosinophilia. Myeloid sarcoma is frequently present at diagnosis. Detection of the t(8;21)(q22;22) translocation is sufficient for diagnosis irrespective of blast count.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-102724/","orphanet_url":"https://www.orpha.net/en/disease/detail/102724","names":{"fr":{"name":"Leucémie myéloblastique aiguë type associée à une translocation t(8;21)(q22;q22)","definition":"Leucémie aiguë myéloïde rare avec anomalie génétique récurrente caractérisée par une anomalie cytogénétique de translocation équilibrée t(8;21)(q22;q22), formant un gène de fusion <i>RUNX1-RUNX1T1</i> et dont les caractéristiques morphologiques sont les suivantes : myéloblastes avec indentation du noyau, cytoplasme basophile avec importante clarification périnucléaire pouvant contenir quelques granules azurophiles, nombre élevé de promyélocytes, myélocytes et métamyélocytes pouvant être de grande taille, bâtonnets d'Auer facilement identifiables et, de manière plus variable, éosinophilie de la moelle osseuse. Un sarcome myéloïde est fréquemment observé au diagnostic. La détection de la translocation t(8;21)(q22;22) suffit au diagnostic, indépendamment du nombre de blastes."},"de":{"name":"Akute myeloische Leukämie mit Translokation t(8;21)(q22;q22)","synonyms":["AML mit Translokation t(8;21)(q22;q22)"],"definition":"Eine seltene akute myeloische Leukämie mit rezidivierender genetischer Anomalie, die durch eine balancierte zytogenetische Translokation t(8;21)(q22; q22) unter Bildung eines <i>RUNX1-RUNX1T1</i>-Fusionsgens gekennzeichnet ist. Zu den morphologischen Merkmalen gehören Myeloblasten mit eingedellten Kernen, basophiles Zytoplasma mit einem ausgeprägten paranukleären Hof (häufig mit azurophilen Granula), prominente und möglicherweise große Promyelozyten, Myelozyten und Metamyelozyten, leicht identifizierbare Auer-Stäbchen und, in unterschiedlicher Ausprägung, eine Eosinophilie des Knochenmarks. Ein myeloisches Sarkom ist bei der Diagnose häufig vorhanden. Der Nachweis der t(8;21)(q22;22)-Translokation ist unabhängig von der Blastenzahl für die Diagnose ausreichend."},"es":{"name":"Leucemia mieloide aguda con traslocación t(8;21)(q22;q22)","synonyms":["LMA con translocación t(8;21)(q22;q22)"],"definition":"Es una leucemia mieloide aguda poco frecuente con anomalías genéticas recurrentes caracterizada por una anomalía citogenética de translocación equilibrada t(8; 21)(q22; q22), que da lugar a un gen de fusión RUNX1-RUNX1T1. Se presenta con características morfológicas que incluyen mieloblastos con núcleos indentados, citoplasma basófilo con un área paranuclear prominente que puede contener algunos gránulos azurófilos, promielocitos, mielocitos y metamielocitos prominentes y posiblemente de gran tamaño, bastones de Auer fácilmente identificables y, de forma más variable, eosinofilia en médula ósea. El sarcoma mieloide suele estar presente al diagnóstico. La detección de la translocación t(8; 21)(q22; 22) es suficiente para el diagnóstico, independientemente del recuento de blastos."},"it":{"name":"Leucemia mieloide acuta con traslocazione t(8;21)(q22;q22)","synonyms":["AML con traslocazione t(8;21)(q22;q22)"],"definition":"Si tratta di una leucemia mieloide acuta rara associata a un'anomalia genetica ricorrente, che consiste in un difetto citogenetico da traslocazione bilanciata t(8;21)(q22;q22), da cui origina un gene di fusione RUNX1-RUNX1T1. Dal punto di vista morfologico, si osservano mieloblasti con nuclei frastagliati, citoplasma basofilo con un'area paranucleare prominente che può contenere pochi granuli azzurrofili, promielociti grandi e prominenti, mielociti e metamielociti, corpi di Auer di facile individuazione e, in maniera più variabile, eosinofilia del midollo osseo. Al momento della diagnosi, spesso i pazienti presentano un sarcoma mieloide. La diagnosi si basa sull'individuazione della traslocazione t(8;21)(q22;22), indipendentemente dal numero dei blasti."},"nl":{"name":"Acute myeloïde leukemie met t(8;21)(q22;q22) translocatie","synonyms":["AML met t(8;21)(q22;q22) translocatie"],"definition":"Een zeldzame acute myeloïde leukemie met recurrente genetische anomalie die gekarakteriseerd wordt door een cytogenetische afwijking, t(8;21)(q22;q22) gebalanceerde translocatie, die een RUNX1-RUNX1T1 fusiegen vormt, en die zich presenteert met morfologische kenmerken waaronder myeloblasten met ingedeukte kernen, basofiel cytoplasma met een prominent perinucleair hof dat mogelijk enkele azurofiele granulen bevat, prominente en mogelijk grote promyelocyten, myelocyten en metamyelocyten, makkelijk te identificeren Auer-staafjes en, meer variabel, eosinofilie van beenmerg. Myeloïd sarcoom is frequent aanwezig bij de diagnose. Detectie van de t(8;21)(q22;22) translocatie volstaat voor diagnose, onafhankelijk van de telling van blastcellen."},"pt":{"name":"Leucemia mielóide aguda com translocação t(8;21)(q22;q22)"},"pl":{"name":"Ostra białaczka szpikowa z translokacją t(8;21)(q22;q22)","synonyms":["AML z translokacją t(8;21)(q22;q22)"]},"cs":{"name":"Akutní myeloidní leukémie s t(8;21)(q22;q22) translokací","synonyms":["AML s t(8;21)(q22;q22) translokací"]},"uk":{"name":"Гостра мієлоїдна лейкемія з транслокацією t(8;21)(q22;q22)","synonyms":["ГМЛ з транслокацією t(8;21)(q22;q22)"],"definition":"A rare acute myeloid leukemia with recurrent genetic anomaly disorder characterized by a t(8;21)(q22;q22) balanced translocation cytogenetic abnormality, forming a RUNX1-RUNX1T1 fusion gene, presenting with morphological characteristics which include myeloblasts with indented nuclei, basophilic cytoplasm with a prominent paranuclear hof that may contain a few azurophilic granules, prominent and possibly large promyelocytes, myelocytes and metamyelocytes, easily identifiable Auer rods and, more variably, bone marrow eosinophilia. Myeloid sarcoma is frequently present at diagnosis. Detection of the t(8;21)(q22;22) translocation is sufficient for diagnosis irrespective of blast count."},"zh":{"name":"急性髓系白血病伴t（8；21）（q22；q22）易位","synonyms":["急性髓性白血病伴t(8;21)(q22;q22)"],"definition":"T(8；21)(q22；q22)易位的急性髓系白血病是以t(8；21)(q22；q22)平衡易位细胞遗传学异常为特征的罕见急性髓系白血病，形成RUNX1-Runx1t1融合基因，其形态特征包括髓母细胞呈凹陷状，胞浆嗜碱性，核旁有一个可能含有少量天青颗粒的突起，明显且可能较大的早幼粒细胞、粒细胞和变淀粉细胞，易于辨认的AUER棒，以及更多样的骨髓嗜伊红血球过多。髓样肉瘤常常在确诊时出现。检测t(8；21)(q22；22)易位就足以诊断，而与原始细胞计数无关。"},"tr":{"name":"t (8; 21) (q22; q22) translokasyonlu akut miyeloid lösemi","synonyms":["t(8; 21) (q22; q22) translokasyonu ile seyreden AML"]}},"xrefs":[{"source":"ICD-10","code":"C92.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"2A60.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1075154059"},{"source":"MONDO","code":"0015166","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1292774","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":"CEBPA","name":"CCAAT enhancer binding protein alpha","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":null,"hgnc":"1833","ensembl":"ENSG00000245848","omim":"116897","loci":["19q13.11"]},{"symbol":"FLT3","name":"fms related receptor tyrosine kinase 3","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"23783394[PMID]","hgnc":"3765","ensembl":"ENSG00000122025","omim":"136351","loci":["13q12.2"]},{"symbol":"KIT","name":"KIT proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"23783394[PMID]_24226631[PMID]","hgnc":"6342","ensembl":"ENSG00000157404","omim":"164920","loci":["4q12"]},{"symbol":"RUNX1","name":"RUNX family transcription factor 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"19357394[PMID]","hgnc":"10471","ensembl":"ENSG00000159216","omim":"151385","loci":["21q22.12"]},{"symbol":"RUNX1T1","name":"RUNX1 partner transcriptional co-repressor 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"19357394[PMID]","hgnc":"1535","ensembl":"ENSG00000079102","omim":"133435","loci":["8q21.3"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}