{"orpha":98824,"name":"Atypical chronic myeloid leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Subacute myeloid leukemia"],"definition":"A rare myelodysplastic/myeloproliferative neoplasm characterized by peripheral blood leukocytosis due to increased numbers of morphologically dysplastic neutrophils and their precursors, hypercellular bone marrow with granulocytic proliferation and dysplasia (with or without dysplasia in the erythroid and megakaryocytic lineages), and prominent dysgranulopoiesis, but no or minimal absolute basophilia or monocytosis. Blasts account for less than 20% of leukocytes in the blood and bone marrow. BCR-ABL1 fusion is absent, as well as PDGFRA, PDGFRB or FGFR1 rearrangement, or PCM1-JAK2. Patients may present with signs and symptoms related to splenomegaly, anemia, or thrombocytopenia. Prognosis is generally poor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98824/","orphanet_url":"https://www.orpha.net/en/disease/detail/98824","names":{"fr":{"name":"Leucémie myéloïde chronique atypique","synonyms":["Leucémie myéloïde subaiguë"],"definition":"Néoplasme myélodysplasique/myéloprolifératif rare caractérisé par une leucocytose dans le sang périphérique dû à l'augmentation du nombre de neutrophiles et de leurs précurseurs dysplasiques sur le plan morphologique, une moelle osseuse hypercellulaire avec prolifération et dysplasie des granulocytes (avec ou sans dysplasie dans les lignées érythroïdes et mégacaryocytaires), et une dysgranulopoïèse sévère, mais une fable valeur absolue de basophiles ou de monocytes, voire nulle. Les blastes représentent moins de 20 % des leucocytes dans le sang et la moelle osseuse. La fusion BCR-ABL1 est absente, de même que les réarrangements de PDGFRA, PDGFRB ou FGFR1, ou PCM1-JAK2. Les patients peuvent manifester des signes cliniques et des symptômes liés à une splénomégalie, une anémie ou une thrombocytopénie. Le pronostic est généralement réservé."},"de":{"name":"Leukämie, chronische myeloische, atypische","definition":"Eine seltene myelodysplastische/myeloproliferative Neoplasie, die durch eine Leukozytose des peripheren Blutes aufgrund einer erhöhten Anzahl morphologisch dysplastischer Neutrophiler und ihrer Vorläufer, ein hyperzelluläres Knochenmark mit granulozytärer Proliferation und Dysplasie (mit oder ohne Dysplasie in den erythroiden und megakaryozytären Linien) und eine ausgeprägte Dysgranulopoese, aber keine oder nur eine geringe absolute Basophilie oder Monozytose gekennzeichnet ist. Die Blasten machen weniger als 20 % der Leukozyten im Blut und Knochenmark aus. Eine BCR-ABL1-Fusion ist nicht vorhanden, ebenso wenig wie ein PDGFRA-, PDGFRB- oder FGFR1-Rearrangement oder PCM1-JAK2. Die Patienten können Anzeichen und Symptome einer Splenomegalie, Anämie oder Thrombozytopenie aufweisen. Die Prognose ist im Allgemeinen schlecht."},"es":{"name":"Leucemia mieloide crónica atípica","definition":"Es una neoplasia mielodisplásica/mieloproliferativa poco frecuente caracterizada por leucocitosis en sangre periférica debido a un incremento del número de neutrófilos morfológicamente displásicos y de sus precursores, médula ósea hipercelular con proliferación granulocítica y displasia (con o sin displasia de las líneas eritroide y megacariocítica), y disgranulopoyesis prominente, aunque con basofilia mínima o ausente o monocitosis. Los blastos representan menos del 20% de los leucocitos en la sangre y la médula ósea. La fusión BCR-ABL1 está ausente, así como los reordenamientos de PDGFRA, PDGFRB o FGFR1, o la fusión PCM1-JAK2. Los pacientes pueden presentarse con signos y síntomas asociados a esplenomegalia, anemia o trombocitopenia. Por lo general, el pronóstico es desfavorable."},"it":{"name":"Leucemia mieloide cronica atipica","definition":"Si tratta di una neoplasia rara mielodisplastica/mieloproliferativa, caratterizzata da leucocitosi del sangue periferico, secondaria ad un aumento del numero dei neutrofili morfologicamente displastici e dei loro precursori, midollo osseo ipercellulare con proliferazione granulocitica e displasia (con o senza displasia delle linee eritroide e megacariocitica) e marcata disgranulopoiesi, con basofilia assoluta o monocitosi minime o assenti. I blasti rappresentano meno del 20% dei leucociti nel sangue e nel midollo osseo. Non si osserva la fusione BCR-ABL1, né i riarrangiamenti di PDGFRA, PDGFRB o FGFR1, o PCM1-JAK2. I pazienti presentano i sintomi correlati alla splenomegalia, all'anemia o alla trombocitopenia. Di solito la prognosi è sfavorevole."},"nl":{"name":"Atypische chronische myeloïde leukemie","synonyms":["Subacute myeloïde leukemie"],"definition":"Een zeldzaam myelodysplastisch/myeloproliferatief neoplasma, gekarakteriseerd door leukocytose van perifeer bloed als gevolg van een verhoogd aantal morfologisch dysplastische neutrofielen en hun precursorcellen, hypercellulair beenmerg met granulocytaire proliferatie en dysplasie (met of zonder dysplasie in erytroïde en megakaryocytaire cellijnen), en prominente dysgranulopoëse, maar geen of minimale absolute basofilie of monocytose. Blastcellen vertegenwoordigen minder dan 20% van de leukocyten in bloed en beenmerg. Fusie van BCR-ABL1 is afwezig, net als herschikking van PDGFRA, PDGFRB of FGFR1, of PCM1-JAK2. Patiënten presenteren zich mogelijk met verschijnselen en symptomen gerelateerd aan splenomegalie, anemie, of trombocytopenie. De prognose is doorgaans slecht."},"pt":{"name":"Leucemia, atípica, mielóide, crónica"},"pl":{"name":"Atypowa przewlekła białaczka szpikowa","synonyms":["Podostra białaczka szpikowa"]},"cs":{"name":"Atypická chronická myeloidní leukémie","synonyms":["Subakutní myeloidní leukémie"]},"uk":{"name":"Атипова хронічна мієлоїдна лейкемія","synonyms":["Підгострий мієлоїдний лейкоз"],"definition":"A rare myelodysplastic/myeloproliferative neoplasm characterized by peripheral blood leukocytosis due to increased numbers of morphologically dysplastic neutrophils and their precursors, hypercellular bone marrow with granulocytic proliferation and dysplasia (with or without dysplasia in the erythroid and megakaryocytic lineages), and prominent dysgranulopoiesis, but no or minimal absolute basophilia or monocytosis. Blasts account for less than 20% of leukocytes in the blood and bone marrow. BCR-ABL1 fusion is absent, as well as PDGFRA, PDGFRB or FGFR1 rearrangement, or PCM1-JAK2. Patients may present with signs and symptoms related to splenomegaly, anemia, or thrombocytopenia. Prognosis is generally poor."},"zh":{"name":"非典型慢性髓样白血病","synonyms":["亚急性髓样白血病"]},"tr":{"name":"Atipik kronik miyeloid lösemi","synonyms":["Subakut miyeloid lösemi"]}},"xrefs":[{"source":"ICD-10","code":"C92.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A41","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"331838766"},{"source":"MONDO","code":"0004653","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054438","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1292772","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10054651","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98275,"name":"Myelodysplastic/myeloproliferative disease","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"CSF3R","name":"colony stimulating factor 3 receptor","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"23656643[PMID]","hgnc":"2439","ensembl":"ENSG00000119535","omim":"138971","loci":["1p34.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}