{"orpha":168940,"name":"Chronic eosinophilic leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors with persistent increase of eosinophils in peripheral blood and bone marrow, accompanied by increased blasts (<20%) or clonal cytogenetic or molecular genetic abnormalities. Cases with BCR-ABL1, PCM1-JAK2, ETV6-JAK2, or BCR-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1, are not included in this entity. Infiltration of the liver and spleen, as well as a variety of other organs, is typical. Patients may present with constitutional symptoms and signs and symptoms of organ involvement, such as endomyocardial fibrosis, peripheral neuropathy, central nervous system manifestations, respiratory symptoms, or rheumatological findings. Acute transformation is common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168940/","orphanet_url":"https://www.orpha.net/en/disease/detail/168940","names":{"fr":{"name":"Leucémie chronique éosinophile","definition":"Néoplasie myéloproliférative rare caractérisée par une prolifération clonale de précurseurs éosinophiles avec une augmentation persistante des éosinophiles dans le sang périphérique et la moelle osseuse, accompagnée d'une augmentation des blastes (< 20 %) ou d'anomalies cytogénétiques clonales ou d'anomalies génétiques moléculaires. Les cas présentant une fusion BCR-ABL1, PCM1-JAK2, ETV6-JAK2 ou BCR-JAK2, ou un réarrangement de PDGFRA, PDGFRB ou FGFR1, ne sont pas inclus dans cette maladie. L'infiltration du foie et de la rate, ainsi que de divers autres organes, est typique. Les patients peuvent manifester des symptômes constitutionnels et des signes cliniques et des symptômes d'atteinte d'organes, tels qu'une fibrose endomyocardique, une neuropathie périphérique, des signes cliniques d'atteinte du système nerveux central, des symptômes respiratoires ou des manifestations rhumatologiques. La maladie évolue souvent vers une forme aiguë."},"de":{"name":"Leukämie, chronische eosinophile","definition":"Eine seltene myeloproliferative Neoplasie, die durch eine klonale Proliferation eosinophiler Vorstufen mit anhaltender Zunahme der Eosinophilen im peripheren Blut und im Knochenmark gekennzeichnet ist, begleitet von einer erhöhten Blastenzahl (<20%) oder klonalen zytogenetischen oder molekulargenetischen Anomalien. Fälle mit BCR-ABL1-, PCM1-JAK2-, ETV6-JAK2- oder BCR-JAK2-Fusion oder Rearrangement von PDGFRA, PDGFRB oder FGFR1 gehören nicht zu dieser Entität. Typisch ist die Infiltration von Leber und Milz sowie einer Vielzahl anderer Organe. Die Patienten können konstitutionelle Symptome und Anzeichen und Symptome einer Organbeteiligung aufweisen, wie z. B. endomyokardiale Fibrose, periphere Neuropathie, Manifestationen des zentralen Nervensystems, respiratorische Symptome oder rheumatologische Befunde. Ein akuter Verlauf ist häufig."},"es":{"name":"Leucemia eosinofílica crónica","definition":"Es una neoplasia mieloproliferativa poco frecuente caracterizada por una proliferación clonal de precursores eosinófilos con un aumento permanente de eosinófilos en la sangre periférica y médula ósea, acompañado de un aumento de blastos (<20%) o anomalías citogenéticas o genéticas moleculares clonales. Los casos que presentan fusión BCR-ABL1, PCM1-JAK2, ETV6-JAK2 o BCR-JAK2, o reordenamiento de PDGFRA, PDGFRB o FGFR1, no se incluyen en esta entidad. La infiltración hepática y esplénica, así como en otros órganos, es frecuente. Los pacientes pueden presentarse con síntomas constitucionales y signos y síntomas de afectación orgánica, tales como fibrosis endomiocárdica, neuropatía periférica, manifestaciones del sistema nervioso central, síntomas respiratorios o hallazgos reumatológicos. La transformación aguda es frecuente."},"it":{"name":"Leucemia eosinofila cronica","definition":"Si tratta di una neoplasia mieloproliferativa rara, caratterizzata dalla proliferazione clonale dei precursori eosinofili, associata ad un aumento persistente degli eosinofili nel sangue periferico e nel midollo osseo, con un aumento dei blasti (<20%) o anomalie citogenetiche clonali o genetiche molecolari. I casi con fusione di BCR-ABL1, PCM1-JAK2, ETV6-JAK2 o BCR-JAK2, e con riarrangiamenti di PDGFRA, PDGFRB o FGFR1 non rientrano in questa malattia. È comune l'infiltrazione del fegato, della milza e degli altri organi. I pazienti presentano sintomi costituzionali e i segni clinici correlati all'interessamento degli organi, come la fibrosi endomiocardica, la neuropatia periferica, sintomi a carico del sistema nervoso centrale, e sintomi respiratori o reumatologici. È comune l'evoluzione acuta."},"nl":{"name":"Chronische eosinofiele leukemie","definition":"Een zeldzaam myeloproliferatief neoplasma, gekarakteriseerd door een klonale proliferatie van eosinofiele precursorcellen met aanhoudende toename van het aantal eosinofielen in perifeer bloed en beenmerg, vergezeld van verhoogde hoeveelheid blastcellen (minder dan 20%) of klonale cytogenetische of moleculair genetische afwijkingen. Gevallen met fusie van BCR-ABL1, PCM1-JAK2, ETV6-JAK2 of BCR-JAK2, of herschikking van PDGFRA, PDGFRB of FGFR1, zijn niet inbegrepen in deze entiteit. Infiltratie van lever en milt, alsook verschillende andere organen, is typisch. Patiënten presenteren zich mogelijk met constitutionele symptomen en verschijnselen en symptomen van betrokkenheid van organen, zoals endomyocardiale fibrose, perifere neuropathie, manifestaties van centraal zenuwstelsel, respiratoire symptomen, of reumatologische bevindingen. Acute transformatie komt geregeld voor."},"pt":{"name":"Leucemia eosinofílica crónica"},"pl":{"name":"Przewlekła białaczka eozynofilowa"},"cs":{"name":"Chronická eozinofilní leukémie"},"uk":{"name":"Хронічний еозинофільний лейкоз","definition":"A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors with persistent increase of eosinophils in peripheral blood and bone marrow, accompanied by increased blasts (<20%) or clonal cytogenetic or molecular genetic abnormalities. Cases with BCR-ABL1, PCM1-JAK2, ETV6-JAK2, or BCR-JAK2 fusion, or rearrangement of PDGFRA, PDGFRB, or FGFR1, are not included in this entity. Infiltration of the liver and spleen, as well as a variety of other organs, is typical. Patients may present with constitutional symptoms and signs and symptoms of organ involvement, such as endomyocardial fibrosis, peripheral neuropathy, central nervous system manifestations, respiratory symptoms, or rheumatological findings. Acute transformation is common."},"zh":{"name":"慢性嗜酸性白血病"},"tr":{"name":"Kronik eozinofilik lösemi"}},"xrefs":[{"source":"ICD-10","code":"D47.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A20.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1901756287"},{"source":"MONDO","code":"0015687","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0346421","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10065854","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98274,"name":"Myeloproliferative neoplasm","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"FIP1L1","name":"factor interacting with PAPOLA and CPSF1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"24764730[PMID]_22523564[PMID]_17988989[PMID]_16502585[PMID]","hgnc":"19124","ensembl":"ENSG00000145216","omim":"607686","loci":["4q12"]},{"symbol":"PDGFRA","name":"platelet derived growth factor receptor alpha","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"24764730[PMID]_22523564[PMID]_17988989[PMID]_16502585[PMID]","hgnc":"8803","ensembl":"ENSG00000134853","omim":"173490","loci":["4q12"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[],"phenotypes":null}