{"orpha":98829,"name":"Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)"],"definition":"A rare acute myeloid leukemia (AML) with recurrent genetic anomaly disorder characterized by an inv(16)(p13q22) or t(16;16)(p13;q22) cytogenic abnormality, which generates a CBFB-MYH11 fusion gene, presenting with typical morphologic features of AML as well as abnormal bone marrow eosinophils (seen in all stages of maturation with no significant signs of maturation arrest). Myeloid sarcoma and involvement of the central nervous system is relatively common. Cytology reveals myeloblasts, a significant monocytic component and variable numbers of immature eosinophils with atypical purple-violet granules in addition to eosinophilic granules. Presence of the fusion gene is sufficent for diagnosis irrespective of blast count.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98829/","orphanet_url":"https://www.orpha.net/en/disease/detail/98829","names":{"fr":{"name":"Leucémie aiguë myéloïde avec éosinophiles médullaires anormaux associée à inv(16)(p13q22) ou t(16;16)(p13;q22)","definition":"Leucémie aiguë myéloïde (LAM) rare avec anomalie génétique récurrente caractérisée par une anomalie cytogénétque avec inversion inv(16)(en p13q22) ou translocation t(16;16)(en p13;q22), qui génère un gène de fusion <i>CBFB-MYH11</i>, présentant des caractéristiques morphologiques typiques de la LAM ainsi que des éosinophiles anormaux dans la moelle osseuse (observés à tous les stades de maturation sans signe significatif d'arrêt de maturation). Le sarcome myéloïde et l'atteinte du système nerveux central sont relativement fréquents. L'examen cytologique révèle des myéloblastes, une importante composante monocytaire et un nombre variable d'éosinophiles immatures avec une granulation de couleur pourpre-violet atypique en plus des granules éosinophiles. La présence du gène de fusion est pathognomonique, indépendamment du nombre de blastes."},"de":{"name":"Akute myeloische Leukämie mit anormalen Eosinophilen und inv(16)(p13q22) oder t(16;16)(p13;q22)","synonyms":["AML mit anormalen Eosinophilen und inv(16)(p13q22) oder t(16;16)(p13;q22)"],"definition":"Eine seltene akute myeloische Leukämie (AML) mit wiederkehrenden genetischen Veränderungen. Die charakteristischen zytogenetischen Charakteristika inv(16)(p13q22) oder t(16;16)(p13;q22) resultieren in einem CBFB-MYH11-Fusionsgen. Die Krankheit präsentiert sich mit den typischen morphologischen Befunden der AML sowie abnormalen Eosinophilen im Knochenmark (beobachtet in allen Stadien der Reifung ohne signifikante Anzeichen eines Reifungsstopps). Myeloische Sarkome und eine Beteiligung des zentralen Nervensystems sind relativ häufig. Die Zytologie zeigt Myeloblasten, eine signifikante monozytäre Komponente und eine variable Anzahl von unreifen Eosinophilen mit atypischen purpur-violetten Granula zusätzlich zu den eosinophilen Granula. Das Vorhandensein des Fusionsgens ist für die Diagnose ausreichend, unabhängig von der Blastenzahl."},"es":{"name":"Leucemia mieloide aguda con eosinófilos anómalos en la médula ósea con inv(16)(p13q22) o t(16;16)(p13;q22)","synonyms":["LMA con eosinófilos anómalos de la médula ósea inv(16)(p13q22) o t(16;16)(p13;q22)"],"definition":"Es una leucemia mieloide aguda (LMA) poco frecuente con anomalías genéticas recurrentes caracterizada por una anomalía citogénica de inv (16)(p13q22) o t(16; 16)(p13; q22), dando lugar a un gen de fusión CBFB-MYH11. Se presenta con los hallazgos morfológicos típicos de la LMA, así como con eosinófilos anómalos en la médula ósea (observados en todas las fases de maduración sin signos significativos de arresto madurativo). El sarcoma mieloide y la afectación del sistema nervioso central son relativamente frecuentes. La citología revela mieloblastos, un componente monocítico significativo y un número variable de eosinófilos inmaduros con gránulos atípicos de color púrpura-violeta además de los gránulos eosinófilos. La presencia del gen de fusión es suficiente para el diagnóstico, independientemente del recuento de blastos."},"it":{"name":"Leucemia mieloide acuta con eosinofili midollari anomali, associata a inv(16)(p13q22) o t(16;16)(p13;q22)","synonyms":["AML con eosinofili midollari anomali, associata a inv(16)(p13q22) o t(16;16)(p13;q22)"],"definition":"Si tratta di una leucemia mieloide acuta (AML) rara, associata a un'anomalia genetica ricorrente, che consiste in un difetto citogenetico inv(16)(p13q22) o t(16;16)(p13;q22), da cui origina un gene di fusione CBFB-MYH11. La malattia presenta le caratteristiche morfologiche tipiche della AML, associate ad anomalie degli eosinofili del midollo osseo (osservate in tutti gli stadi di maturazione, in assenza di segni significativi di arresto della maturazione). Sono relativamente comuni il sarcoma mieloide e l'interessamento del sistema nervoso centrale. L'esame citologico evidenzia mieloblasti, una significativa componente monocitica e un numero variabile di eosinofili immaturi con granuli atipici color porpora-viola e granuli eosinofili. La diagnosi si basa sulla presenza del gene di fusione, indipendentemente dal numero dei blasti."},"nl":{"name":"Acute myeloïde leukemie met abnormale beenmergeosinofielen inv(16)(p13q22) of t(16;16)(p13;q22)","synonyms":["AML met abnormale beenmergeosinofielen inv(16)(p13q22) of t(16;16)(p13;q22)"],"definition":"Een zeldzame acute myeloïde leukemie (AML) met recurrente genetische anomalie die gekarakteriseerd wordt door een inv(16)(p13q22) of t(16;16)(p13;q22) cytogenetische afwijking die een CBFB-MYH11 fusiegen genereert, en die zich presenteert met typische morfologische kenmerken van AML alsook abnormale eosinofielen in beenmerg (waargenomen in alle stadia van rijping zonder significante tekenen van arrest van de maturatie). Myeloïd sarcoom en betrokkenheid van het centrale zenuwstelsel komt relatief vaak voor. Cytologie toont myeloblasten, een significante monocytaire component en variabele aantallen onrijpe eosinofielen met atypische paars-violette granulen, naast eosinofiele granulen. De aanwezigheid van het fusiegen volstaat voor de diagnose, ongeacht het aantal blastcellen."},"pt":{"name":"Leucemia mielóide, aguda com anomalia inv(16)(p13q22) ou t(16;16)(p13;q22) dos eosinófilos da medula óssea"},"pl":{"name":"Ostra białaczka szpikowa z nieprawidłowymi eozynofilami inv(16)(p13q22) lub t(16;16)(p13;q22 w szpiku","synonyms":["AML z nieprawidłowymi eozynofilami inv(16)(p13q22) lub t(16;16)(p13;q22 w szpiku"]},"cs":{"name":"Akutní myeloidní leukémie s abnormálními eozinofily kostní dřeně a inv(16)(p13q22) nebo t(16;16)(p13;q22)","synonyms":["AML s abnormálními eozinofily kostní dřeně a inv(16)(p13q22) nebo t(16;16)(p13;q22)"]},"uk":{"name":"Гострий мієлоїдний лейкоз з аномальними еозинофілами кісткового мозку inv(16)(p13q22) або t(16;16)(p13;q22)","synonyms":["ГМЛ з аномальними еозинофілами кісткового мозку inv(16)(p13q22) або t(16;16)(p13;q22)"],"definition":"A rare acute myeloid leukemia (AML) with recurrent genetic anomaly disorder characterized by an inv(16)(p13q22) or t(16;16)(p13;q22) cytogenic abnormality, which generates a CBFB-MYH11 fusion gene, presenting with typical morphologic features of AML as well as abnormal bone marrow eosinophils (seen in all stages of maturation with no significant signs of maturation arrest). Myeloid sarcoma and involvement of the central nervous system is relatively common. Cytology reveals myeloblasts, a significant monocytic component and variable numbers of immature eosinophils with atypical purple-violet granules in addition to eosinophilic granules. Presence of the fusion gene is sufficent for diagnosis irrespective of blast count."},"zh":{"name":"急性髓系白血病伴骨髓嗜酸性粒细胞异常及inv(16)(p13q22)或t(16;16)(p13;q22)","synonyms":["AML伴异常骨髓嗜酸性粒细胞inv(16)(p13q22)或t(16;16)(p13;q22)"],"definition":"该病是一种罕见的急性髓系白血病(AML)，以inv(16)(P13q22)或t(16；16)(p13；q22)细胞遗传学异常为特征，可产生CBFB-MYH11融合基因，表现为AML的典型形态学特征以及异常骨髓嗜酸性粒细胞(见于所有成熟阶段，无明显成熟抑制迹象)，常见髓样肉瘤和中枢神经系统受累。细胞学检查显示单核细胞成分中的原粒细胞大量存在，还有数量不等的未成熟嗜酸性粒细胞，表现为除了嗜酸性颗粒外，带有不典型的紫色颗粒。无论原始细胞计数多少，融合基因的存在都足以诊断该病。"},"tr":{"name":"Anormal kemik iliği eozinofilleri inv(16) (p13q22) veya t(16;16) (p13;q22) ile seyreden akut miyeloid lösemi","synonyms":["Anormal kemik iliği eozinofilleri olan AML inv (16) (p13q22) veya t (16; 16) (p13; q22)"]}},"xrefs":[{"source":"ICD-10","code":"C92.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"2A60.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"808954959"},{"source":"MONDO","code":"0020316","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5395080","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"536","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":"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":"CBFB","name":"core-binding factor subunit beta","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"19357394[PMID]","hgnc":"1539","ensembl":"ENSG00000067955","omim":"121360","loci":["16q22.1"]},{"symbol":"MYH11","name":"myosin heavy chain 11","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"19357394[PMID]","hgnc":"7569","ensembl":"ENSG00000133392","omim":"160745","loci":["16p13.11"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"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}