{"orpha":100019,"name":"Myelodysplastic neoplasm with increased blasts type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MDS-IB1","RAEB-1","Refractory anemia with excess blasts type 1"],"definition":"A severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100019/","orphanet_url":"https://www.orpha.net/en/disease/detail/100019","names":{"fr":{"name":"Tumeur myélodysplasique avec augmentation des blastes type 1","synonyms":["AREB-1","Anémie réfractaire avec excès de blastes type 1","RAEB-1"],"definition":"Type sévère de RAEB caractérisé par des cytopénies et les paramètres hématologiques suivants : dysplasie uni- ou multilignée, 5 à 9 % de blastes dans la moelle osseuse ou 2 à 4 % dans le sang périphérique, et absence de corps d'Auer (inclusions anormales, en forme d'aiguille ou arrondies, dans le cytoplasme des myéloblastes et des promyélocytes). La survie médiane est de 18 mois."},"de":{"name":"Myelodysplastische Neoplasie mit erhöhtem Blastenanteil Typ 1","synonyms":["Anämie, refraktäre, mit Blastenexzess-1","MDS-IB1","RAEB-1"]},"es":{"name":"Neoplasia mielodisplásica con aumento de blastos tipo 1","synonyms":["Anemia refractaria con exceso de blastos tipo 1","MDS-IB1","RAEB-1","Síndrome mielodisplásico con aumento de blastos tipo 1"],"definition":"Es un tipo grave de anemia refractaria con exceso de blastos (RAEB) caracterizado por citopenias y por los siguientes parámetros hematológicos: displasia uni- o multilinea, 5-9% de blastos en médula ósea o 2-4% en sangre periférica, sin bastones de Auer (inclusiones anómalas en forma de aguja o redondeadas en el citoplasma de mieloblastos y promielocitos). Se ha descrito una mediana de supervivencia de 18 meses."},"it":{"name":"Neoplasia mielodisplastica con aumento dei blasti tipo 1","synonyms":["Anemia refrattaria con eccesso di blasti tipo 1","MDS-IB1","RAEB-1"],"definition":"L'anemia refrattaria con eccesso di blasti (RAEB) tipo 1 è una forma grave di RAEB (si veda questo termine). È caratterizzata da citopenia e dai seguenti valori ematologici: displasia mono- o multi-lineare, blasti nel midollo osseo dal 5 al 9%, blasti nel sangue periferico dal 2 al 4%, assenza di corpi di Auer (inclusioni anomale, a forma di ago o arrotondate nel citoplasma dei mieloblasti e dei promielociti). La sopravvivenza media è di 18 mesi."},"nl":{"name":"Myelodysplastisch neoplasma met overmaat aan blasten type 1","synonyms":["MDS met overmaat aan blasten type 1","MDS-IB1","RAEB-1","Refractaire anemie met exces van blasten type 1"],"definition":"Een ernstig type van RAEB gekarakteriseerd door cytopenieën en de volgende hematologische parameters: uni- of multilineaire dysplasie, 5% tot 9% blastcellen in beenmerg of 2% tot 4% in perifeer bloed, en geen Auer-staafjes (abnormale, naaldvormige of ronde inclusies in het cytoplasma van myeloblasten en promyelocyten). Er werd een mediane overleving van 18 maanden gerapporteerd."},"pt":{"name":"Neoplasia mielodisplásica com excesso de blastos tipo 1","synonyms":["Anemia refratária com excesso de blastos tipo 1","MDS-IB1","RAEB-1"]},"pl":{"name":"Nowotwór mielodysplastyczny ze zwiększoną liczbą blastów typu 1","synonyms":["RAEB-1"]},"cs":{"name":"Refrakterní anémie s nadbytkem blastů, typ 1","synonyms":["RAEB-1"]},"uk":{"name":"Мієлодиспластичне новоутворення з підвищеною кількістю бластів, тип 1","synonyms":["MDS-IB1","RAEB-1","Рефрактерна анемія з надлишком бластів, тип 1"],"definition":"A severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months."},"zh":{"name":"难治性贫血伴母细胞过多1型","synonyms":["RAEB-1"],"definition":"顽固性贫血伴原始细胞增多的1型是一种以细胞减少和以下血液学参数为特征的重症RAEB：单系或多系异型增生，骨髓中5%~9%的原始细胞或外周血中2%~4%的原始细胞，无Auer棒(成髓细胞和早幼粒细胞胞浆中异常的针状或圆形包涵体)。据报道，中位生存期为18个月。"},"tr":{"name":"Tip 1 aşırı blastlı refrakter anemi","synonyms":["RAEB-1"]}},"xrefs":[{"source":"ICD-10","code":"D46.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A35","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1842076431"},{"source":"MONDO","code":"0015040","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1318550","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":86839,"name":"Myelodysplastic neoplasm with increased blasts","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"TET2","name":"tet methylcytosine dioxygenase 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"19483684[PMID]_19557078[PMID]","hgnc":"25941","ensembl":"ENSG00000168769","omim":"612839","loci":["4q24"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}