{"orpha":168960,"name":"Refractory anemia with excess blasts in transformation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RAEB-t"],"definition":"A rare hematologic disease characterized by the presence of 20-29% blasts in the bone marrow, presence of 5-29% blasts in the peripheral blood, and/or presence of Auer rods. Patients show relatively stable peripheral blood counts for weeks or months, with specific cytogenetic and molecular genetic characteristics constituting important prognostic factors.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168960/","orphanet_url":"https://www.orpha.net/en/disease/detail/168960","names":{"fr":{"name":"Anémie réfractaire avec excès de blastes en transformation","synonyms":["RAEB-t"],"definition":"Maladie hématologique rare, caractérisée par la présence de bastes à hauteur de 20 à 29 % dans la moelle osseuse et à hauteur de 5 à 29 % dans le sang périphérique, et/ou par la présence de corps d'Auer. La numération formule sanguine des patients reste relativement stable pendant plusieurs semaines ou mois, mais certaines caractéristiques génétiques moléculaires et cytogénétiques spécifiques sont des facteurs pronostiques essentiels."},"de":{"name":"Refraktäre Anämie mit Vermehrung von Blasten in Transformation","synonyms":["RAEB-t"],"definition":"Eine seltene hämatologische Erkrankung, die durch das Vorhandensein von 20-29% Blasten im Knochenmark, 5-29% Blasten im peripheren Blut und/oder das Vorhandensein von Auer-Stäbchen gekennzeichnet ist. Die Patienten weisen über Wochen oder Monate relativ stabile periphere Blutwerte auf, wobei spezifische zytogenetische und molekulargenetische Merkmale wichtige prognostische Faktoren darstellen."},"es":{"name":"Anemia refractaria con exceso de blastos en transformación","synonyms":["AREB-t"],"definition":"Es una enfermedad hematológica poco frecuente caracterizada por la presencia de un 20-29% de blastos en médula ósea, 5-29% de blastos en sangre periférica y/o de bastones de Auer. Los pacientes muestran recuentos de sangre periférica relativamente estables durante semanas o meses, con características genéticas moleculares y citogenéticas específicas que constituyen un importante factor pronóstico."},"it":{"name":"Anemia refrattaria con eccesso di blasti in trasformazione","synonyms":["RAEB-t"],"definition":"Si tratta di una malattia ematologica rara, caratterizzata dalla presenza del 20-29% di blasti nel midollo osseo, del 5-29% di blasti nel sangue periferico e/o dalla presenza di corpi di Auer. I pazienti mostrano valori del sangue periferico relativamente stabili per settimane o mesi, con caratteristiche genetiche molecolari e citogenetiche specifiche che rappresentano importanti fattori prognostici."},"nl":{"name":"Refractaire anemie met exces aan blasten in transformatie","synonyms":["RAEB-t"],"definition":"Een zeldzame hematologische aandoening, gekarakteriseerd door de aanwezigheid van 20-29% blastcellen in beenmerg, de aanwezigheid van 5-29% blastcellen in perifeer bloed, en/of de aanwezigheid van Auer-staafjes. Patiënten vertonen weken- of maandenlang relatief stabiele aantallen van bloedcellen in perifeer bloed, en specifieke cytogenetische en moleculair genetische kenmerken die belangrijke prognostische factoren vormen."},"pt":{"name":"Anemia refratária com excesso de blastos em transformação"},"pl":{"name":"Niedokrwistość oporna na leczenie z transformacją białaczkową","synonyms":["RAEB-t"]},"cs":{"name":"Refrakterní anémie s nadbytkem blastů","synonyms":["RAEB-T"]},"uk":{"name":"Рефрактерна анемія з надлишком бластів у стадії трансформації","synonyms":["RAEB-t"],"definition":"A rare hematologic disease characterized by the presence of 20-29% blasts in the bone marrow, presence of 5-29% blasts in the peripheral blood, and/or presence of Auer rods. Patients show relatively stable peripheral blood counts for weeks or months, with specific cytogenetic and molecular genetic characteristics constituting important prognostic factors."},"zh":{"name":"未成熟细胞过多的难治性贫血","synonyms":["RAEB-t"]},"tr":{"name":"Transformasyonda artmış blast içeren refrakter anemi","synonyms":["RAEB-t"]}},"xrefs":[{"source":"ICD-10","code":"D46.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"2A34","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"812568400"},{"source":"MONDO","code":"0015692","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0280028","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10038271","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":52688,"name":"Myelodysplastic syndrome","classifications":[194,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.04,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}