{"orpha":100020,"name":"Myelodysplastic neoplasm with increased blasts type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MDS-IB2","RAEB-2","Refractory anemia with excess blasts type 2"],"definition":"A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of 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-100020/","orphanet_url":"https://www.orpha.net/en/disease/detail/100020","names":{"fr":{"name":"Tumeur myélodysplasique avec augmentation des blastes type 2","synonyms":["AREB-2","Anémie réfractaire avec excès de blastes type 2","RAEB-2"],"definition":"Type très sévère de RAEB caractérisé par des cytopénies et les paramètres hématologiques suivants : dysplasie uni- ou multilignée, 10 % à 19 % de blastes dans la moelle osseuse ou 5 % à 19 % dans le sang périphérique, présence variable 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 2","synonyms":["Anämie, refraktäre, mit Blastenexzess-2","MDS-IB2","RAEB-2"]},"es":{"name":"Neoplasia mielodisplásica con aumento de blastos tipo 2","synonyms":["Anemia refractaria con exceso de blastos tipo 2","MDS-IB2","RAEB-2","Síndrome mielodisplásico con aumento de blastos tipo 2"],"definition":"Es un tipo muy grave de anemia refractaria con exceso de blastos (RAEB) caracterizada por citopenias y los siguientes parámetros hematológicos: displasia uni- o multilínea de 10-19% de blastos en la médula ósea ó 5-19% en sangre periférica, presencia variable de 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 2","synonyms":["Anemia refrattaria con eccesso di blasti tipo 2","MDS-IB2","RAEB-2"],"definition":"L'anemia refrattaria con eccesso di blasti (RAEB) tipo 2 è una forma molto grave di RAEB (si veda questo termine), caratterizzata da citopenia e dai seguenti valori ematologici: displasia mono- o multi-lineare; blasti nel midollo osseo dal 10 al 19%; blasti nel sangue periferico dal 5 al 19%; presenza variabile di corpi di Auer (inclusioni a forma di ago o arrotondate nel citoplasma dei mieloblasti e dei promielociti). La sopravvivenza media è 18 mesi."},"nl":{"name":"Myelodysplastisch neoplasma met overmaat aan blasten type 2","synonyms":["MDS met overmaat aan blasten type 2","MDS-IB2","RAEB-2","Refractaire anemie met exces van blasten type 2"],"definition":"Een zeer ernstig type van RAEB gekarakteriseerd door cytopenieën en de volgende hematologische parameters: uni- of multilineaire dysplasie, 10% tot 19% blastcellen in beenmerg of 5% tot 19% in perifeer bloed, variabele aanwezigheid van 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 2","synonyms":["Anemia refratária com excesso de blastos tipo 2","MDS-IB2","RAEB-2"]},"pl":{"name":"Nowotwór mielodysplastyczny ze zwiększoną liczbą blastów typu 2","synonyms":["RAEB-2"]},"cs":{"name":"Refrakterní anémie s nadbytkem blastů, typ 2","synonyms":["RAEB-2"]},"uk":{"name":"Мієлодиспластичне новоутворення з підвищеною кількістю бластів, тип 2","synonyms":["MDS-IB2","RAEB-2","Рефрактерна анемія з надлишком бластів, тип 2"],"definition":"A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of 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2型","synonyms":["RAEB-2"],"definition":"顽固性贫血伴原始细胞增多的1型是以细胞减少和以下血液学参数为特征的一种非常严重的RAEB类型：单纯多系发育不良，骨髓中10%~19%的原始细胞或外周血中5%~19%的原始细胞，AUER棒的不同存在(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 2 aşırı blastlı refrakter anemi","synonyms":["RAEB-2"]}},"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":"1642731891"},{"source":"MONDO","code":"0015041","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4704767","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}