{"orpha":86849,"name":"Acute basophilic leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare acute myeloid leukemia characterized by primary differentiation to basophils. Microscopically, peripheral blood and bone marrow blasts contain coarse cytoplasmic basophilic granules which are positive with metachromatic staining (toluidine blue). Electron microscopy confirms that granules show features characteristic of basophil precursors. Mature basophils are usually sparse. Patients may present with manifestations related to bone marrow failure, as well as hepatosplenomegaly, cutaneous involvement, lytic lesions, and hyperhistaminemia. The disease is associated with a poor prognosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86849/","orphanet_url":"https://www.orpha.net/en/disease/detail/86849","names":{"fr":{"name":"Leucémie aiguë à basophiles","definition":"Leucémie aiguë myéloïde caractérisée par une différenciation primaire des basophiles. Au microscope, les blastes du sang périphérique et de la moelle osseuse contiennent de grands granules cytoplasmiques de type basophile qui sont positifs à la coloration métachromatique (bleu de toluidine). La microscopie électronique confirme que les granules présentent des caractéristiques propres aux précurseurs des basophiles. Les basophiles différenciés sont généralement peu nombreux. Les patients peuvent manifester des symptômes liés à une insuffisance médullaire, ainsi qu'une hépatosplénomégalie, une atteinte cutanée, des lésions lytiques et une hyperhistaminémie. Le pronostic de la maladie est défavorable."},"de":{"name":"Leukämie, akute basophile","definition":"Eine akute myeloische Leukämie, die durch eine primäre Differenzierung zu Basophilen gekennzeichnet ist. Mikroskopisch gesehen enthalten Blasten aus peripherem Blut und Knochenmark grobe zytoplasmatische basophile Granula, die bei metachromatischer Färbung (Toluidinblau) positiv sind. Die Elektronenmikroskopie bestätigt, dass die Granula charakteristische Merkmale der basophilen Vorläuferzellen aufweisen. Ausgereifte Basophile sind in der Regel spärlich vorhanden. Die Patienten können Manifestationen im Zusammenhang mit Knochenmarkversagen sowie Hepatosplenomegalie, Hautbefall, lytische Läsionen und Hyperhistaminämie aufweisen. Die Krankheit ist mit einer schlechten Prognose verbunden."},"es":{"name":"Leucemia basofílica aguda","definition":"Es una leucemia mieloide aguda poco frecuente caracterizada por una diferenciación primaria a basófilos. Microscópicamente, los blastos de la sangre periférica y la médula ósea contienen grandes gránulos citoplasmáticos basófilos, positivos para la tinción metacromática (azul de toluidina). La microscopía electrónica confirma que los gránulos muestran rasgos característicos de los precursores de basófilos. Los basófilos maduros suelen ser escasos. Los pacientes pueden presentar manifestaciones asociadas a la insuficiencia de la médula ósea, así como hepatoesplenomegalia, afectación cutánea, lesiones líticas e hiperhistaminemia. La enfermedad asocia un pronóstico desfavorable."},"it":{"name":"Leucemia basofila acuta","definition":"Si tratta di una leucemia mieloide acuta rara, caratterizzata dalla differenziazione primaria nei basofili. Dal punto di vista microscopico, i blasti del sangue periferico e del midollo osseo contengono granuli basofili citoplasmatici grossolani, che sono positivi alla colorazione metacromatica (blu di toluidina). L'analisi al microscopio elettronico conferma che i granuli mostrano le caratteristiche tipiche dei precursori basofili. I basofili maturi in genere sono poco numerosi. I pazienti possono presentare i sintomi correlati all'insufficienza midollare, epatosplenomegalia, interessamento della cute, lesioni litiche ed iperistaminemia. La prognosi è sfavorevole."},"nl":{"name":"Acute basofiele leukemie","definition":"Een zeldzame acute myeloïde leukemie, gekarakteriseerd door primaire differentiatie tot basofielen. Microscopisch bevatten blastcellen van perifeer bloed en beenmerg grove cytoplasmatische basofiele granulen die positief kleuren zijn bij metachromatische kleuring (toluïdine blauw). Elektronenmicroscopie bevestigt dat granulen kenmerken vertonen die typisch zijn voor precursorcellen van basofielen. Rijpe basofielen zijn meestal schaars. Patiënten presenteren zich mogelijk met manifestaties gerelateerd aan beenmergfalen, alsook hepatosplenomegalie, betrokkenheid van huid, lytische laesies, en hyperhistaminemie. Het is geassocieerd met een ongunstige prognose."},"pt":{"name":"Leucemia basofílica aguda"},"pl":{"name":"Ostra białaczka bazofilowa"},"cs":{"name":"Akutní bazofilní leukémie"},"uk":{"name":"Гострий базофільний лейкоз","definition":"A rare acute myeloid leukemia characterized by primary differentiation to basophils. Microscopically, peripheral blood and bone marrow blasts contain coarse cytoplasmic basophilic granules which are positive with metachromatic staining (toluidine blue). Electron microscopy confirms that granules show features characteristic of basophil precursors. Mature basophils are usually sparse. Patients may present with manifestations related to bone marrow failure, as well as hepatosplenomegaly, cutaneous involvement, lytic lesions, and hyperhistaminemia. The disease is associated with a poor prognosis."},"zh":{"name":"急性嗜碱粒细胞白血病"},"tr":{"name":"Akut bazofilik lösemi"}},"xrefs":[{"source":"ICD-10","code":"C94.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A60.37","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1632520399"},{"source":"MONDO","code":"0019458","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015471","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023437","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":167714,"name":"Unclassified acute myeloid leukemia","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"GATA1","name":"GATA binding protein 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"21474671[PMID]","hgnc":"4170","ensembl":"ENSG00000102145","omim":"305371","loci":["Xp11.23"]},{"symbol":"MYB","name":"MYB proto-oncogene, transcription factor","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"21474671[PMID]","hgnc":"7545","ensembl":"ENSG00000118513","omim":"189990","loci":["6q23.3"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"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}