{"orpha":168950,"name":"Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168950/","orphanet_url":"https://www.orpha.net/en/disease/detail/168950","names":{"fr":{"name":"Tumeur myéloïde/lymphoïde associée à un réarrangement de PDGFRB","definition":"La tumeur myéloïde/lymphoïde associée à un réarrangement de PDGFRB est une maladie néoplasique maligne rare caractérisée par la prolifération clonale de précurseurs myéloïdes et/ou lymphoïdes porteurs de réarrangement au niveau du gène <i>PDGFRB</i> dans le sang, la moelle osseuse et souvent dans d'autres tissus (rate, ganglions lymphatiques, peau...). Elle se manifeste habituellement par une leucémie myélomonocytaire chronique avec éosinophilie, une leucémie éosinophilique chronique, une leucémie myéloïde chronique atypique, une leucémie myélomonocytaire juvénile, un syndrome myélodysplasique, une leucémie myéloïde aigüe ou une leucémie lymphoblastique aigüe. Les patients présentent habituellement une anémie, une leucocytose, une monocytose, une éosinophilie et/ou une splénomégalie, ou des manifestations systémiques telles qu'une fièvre, des sueurs et/ou une perte de poids."},"de":{"name":"Myeloische/lymphatische Neoplasie mit assoziiertem PDGFRB-Gen-Rearrangement","definition":"Myeloische/lymphatische Neoplasie mit PDGFRB-Rearrangement ist eine seltene, bösartige, neoplastische Erkrankung, die durch klonale Proliferation von myeloischen und/oder lymphoiden Vorstufen, die Rearrangements im PDGFRB-Gen aufweisen, im Blut, Knochenmark und oft auch in anderen Geweben (Milz, Lymphknoten, Haut usw.) gekennzeichnet ist. Sie zeigt sich in der Regel als chronische myelomonozytäre Leukämie mit Eosinophilie, chronische eosinophile Leukämie, atypische chronische myeloische Leukämie, juvenile myelomonozytäre Leukämie, myelodysplastisches Syndrom, akute myeloische Leukämie oder akute lymphoblastische Leukämie. Die Patienten präsentieren sich in der Regel mit Anämie, Leukozytose, Monozytose, Eosinophilie und/oder Splenomegalie oder systemischen Symptomen, wie Fieber, Schwitzen und/oder Gewichtsverlust."},"es":{"name":"Neoplasia mieloide/linfoide asociada a un reordenamiento del gen PDGFRB","definition":"Es una enfermedad, maligna y poco frecuente, caracterizada por la proliferación clonal de precursores mieloides y/o linfoides que albergan reordenamientos en el gen <i>PDGFRB</i>, en la sangre, médula ósea y, a menudo, en otros tejidos (bazo, nódulos linfáticos, piel, etc.). En general, puede presentarse como leucemia mielomonocítica crónica con eosinofilia, leucemia eosinofílica crónica, leucemia mieloide crónica atípica, leucemia mielomonocítica juvenil, síndrome mielodisplásico, leucemia mieloide aguda o leucemia linfoblástica aguda. Generalmente, los afectados suelen presentar anemia, leucocitosis, monocitosis, eosinofilia y/o esplenomegalia, o síntomas sistémicos, tales como fiebre, sudoración y/o pérdida de peso."},"it":{"name":"Neoplasia mieloide/linfoide associata a riarrangiamento di PDGFRB","definition":"La neoplasia mieloide/linfoide associata al riarrangiamento di PDGFRB è una neoplasia maligna rara, caratterizzata dalla proliferazione clonale di precursori mieloidi e/o linfoidi che presentano riarrangiamenti nel gene PDGFRB, nel sangue, nel midollo osseo e spesso anche in altri tessuti (milza, linfonodi, cute, ecc.). Di solito esordisce sotto forma di leucemia mielomonocitica cronica con eosinofilia, leucemia eosinofila cronica, leucemia mieloide cronica atipica, leucemia mielomonocitica giovanile, sindrome mielodisplastica, leucemia mieloide acuta o leucemia linfoblastica acuta. In genere i pazienti presentano anemia, leucocitosi, monocitosi, eosinofilia e/o splenomegalia o segni clinici sistemici come la febbre, la sudorazione e/o la perdita di peso."},"nl":{"name":"Myeloïd/lymfoïd neoplasma geassocieerd met PDGFRB-herschikking","definition":"Een zeldzame, maligne, neoplastische ziekte, gekarakteriseerd door klonale proliferatie van myeloïde en/of lymfoïde precursorcellen, die herschikkingen in het gen <i>PDGFRB</i> bevatten, in bloed, beenmerg en vaak ook andere weefsels (milt, lymfeklieren, huid, etc.). Meestal presenteert de ziekte zich als chronische myelomonocytische leukemie met eosinofilie, chronische eosinofiele leukemie, atypische chronische myeloïde leukemie, juveniele myelomonocytische leukemie, myelodysplastisch syndroom, acute myeloïde leukemie of acute lymfoblastische leukemie. Patiënten presenteren zich doorgaans met anemie, leukocytose, monocytose, eosinofilie en/of splenomegalie, of systemische symptomen, zoals koorts, zweten en/of gewichtsverlies."},"pt":{"name":"Neoplasia mielóide/linfóide associada a rearranjo do PDGFRB"},"pl":{"name":"Nowotwory szpiku związane rearanżacją PDGFRB"},"cs":{"name":"Myeloidní neoplázie spojená s přestavbou PDGFRB"},"uk":{"name":"Мієлоїдні/лімфоїдні новоутворення, повязані з перебудовою PDGFRB","definition":"A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss."},"zh":{"name":"PDGFRB重排相关髓系/淋巴系肿瘤","definition":"骨髓瘤和（或）淋巴瘤相关PDGFRB基因重排是一种罕见的恶性肿瘤性疾病，其特征是在血液、骨髓和其他组织（脾、淋巴结、皮肤等）中，携带PDGFRA基因重排的骨髓和（或）淋巴前体细胞克隆性增生。其主要临床表现为伴有嗜酸性粒细胞增多的慢性粒细胞白血病、慢性嗜酸性粒细胞白血病、非典型慢性粒细胞白血病、幼年型粒单核细胞白血病、骨髓增生异常综合征、急性粒细胞白血病或急性淋巴细胞白血病。患者通常表现为贫血、白细胞增多、单核细胞增多、嗜酸性粒细胞增多和（或）脾肿大，或全身症状，如发热、出汗和/或体重减轻。"},"tr":{"name":"PDGFRB yeniden düzenlemesiyle ilişkili miyeloid/lenfoid neoplazm"}},"xrefs":[{"source":"ICD-10","code":"C92.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A51","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"625932159"},{"source":"MONDO","code":"0015690","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15690","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3472621","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":168943,"name":"Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"PDGFRB","name":"platelet derived growth factor receptor beta","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23489324[PMID]","hgnc":"8804","ensembl":"ENSG00000113721","omim":"173410","loci":["5q32"]}],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}