{"orpha":86829,"name":"Chronic neutrophilic leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare myeloproliferative neoplasm characterized by sustained peripheral blood neutrophilia, bone marrow hypercellularity due to neutrophilic granulocyte proliferation, and hepatosplenomegaly. Other organs may be infiltrated in addition. Microscopically, the bone marrow shows an increase in proportion of myelocytes and mature neutrophils, but no significant dysplasia in any of the cell lineages. Peripheral blood neutrophils are mostly segmented, although band forms may also be substantially increased. Cytogenetic abnormalities are absent in most cases. The disease is slowly progressive with progredient neutrophilia followed by anemia and thrombocytopenia. Transformation to acute myeloid leukemia may occur.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86829/","orphanet_url":"https://www.orpha.net/en/disease/detail/86829","names":{"fr":{"name":"Leucémie chronique à neutrophiles","definition":"Néoplasie rare caractérisée par une neutrophilie persistante du sang périphérique, une hypercellularité de la moelle osseuse due à une prolifération de granulocytes neutrophiles et une hépatosplénomégalie. D'autres organes peuvent par ailleurs être infiltrés. Au microscope, la moelle osseuse présente une augmentation de la proportion de myélocytes et de neutrophiles matures, mais aucune dysplasie significative dans aucune des lignées cellulaires. La majorité des neutrophiles du sang périphérique sont segmentés, bien que l'on observe une augmentation sensible de formes en bande. Dans la plupart des cas, il n'existe pas d'anomalies cytogénétiques. La maladie est lentement progressive avec une neutrophilie progressive suivie d'une anémie et d'une thrombocytopénie. Une transformation en leucémie myéloïde aiguë est possible."},"de":{"name":"Leukämie, chronische neutrophile","definition":"Eine myeloproliferative Neoplasie, die durch anhaltende Neutrophilie des peripheren Blutes, Hyperzellularität des Knochenmarks aufgrund neutrophiler Granulozytenproliferation und Hepatosplenomegalie gekennzeichnet ist. Darüber hinaus können auch andere Organe infiltriert sein. Mikroskopisch zeigt das Knochenmark eine Zunahme des Anteils an Myelozyten und reifen Neutrophilen, aber keine signifikante Dysplasie in einer der Zelllinien. Die neutrophilen Granulozyten des peripheren Blutes sind meist segmentiert, obwohl auch Bandenformen deutlich erhöht sein können. Zytogenetische Anomalien sind in den meisten Fällen nicht vorhanden. Die Krankheit schreitet langsam voran, mit einer progredienten Neutrophilie, gefolgt von Anämie und Thrombozytopenie. Es kann zu einer Umwandlung in eine akute myeloische Leukämie kommen."},"es":{"name":"Leucemia neutrofílica crónica","definition":"Es una neoplasia mieloproliferativa poco frecuente caracterizada por neutrofilia sanguínea periférica sostenida, hipercelularidad de la médula ósea debido a la proliferación de granulocitos neutrófilos y hepatoesplenomegalia, con una posible infiltración en otros órganos. Microscópicamente, la médula ósea muestra un aumento en la proporción de mielocitos y neutrófilos maduros, aunque no se observa displasia significativa en ninguna de las líneas celulares. Los neutrófilos de sangre periférica son mayoritariamente segmentados, aunque las formas en bandas también pueden aumentar significativamente. Las anomalías citogenéticas están ausentes en la mayoría de los casos. La enfermedad progresa lentamente con neutrofilia progresiva seguida de anemia y trombocitopenia. Puede producirse la transformación a leucemia mieloide aguda."},"it":{"name":"Leucemia neutrofila cronica","definition":"Si tratta di una neoplasia mieloproliferativa rara, caratterizzata da marcata neutrofilia nel sangue periferico, ipercellularità del midollo osseo secondaria alla proliferazione dei granulociti neutrofili ed epatosplenomegalia. Può infiltrare anche altri organi. Dal punto di vista microscopico, il midollo osseo presenta un aumento percentuale dei mielociti e dei neutrofili maturi, in assenza di una displasia significativa delle linee cellulari. I neutrofili del sangue periferico sono per lo più segmentati, ma anche le forme a banda possono essere sostanzialmente aumentate. Nella maggior parte dei pazienti non si osservano anomalie citogenetiche. La malattia progredisce lentamente con neutrofilia progressiva, seguita da anemia e trombocitopenia. La malattia può evolvere verso la leucemia mieloide acuta."},"nl":{"name":"Chronische neutrofiele leukemie","definition":"Een zeldzaam myeloproliferatief neoplasma, gekarakteriseerd door aanhoudende neutrofilie van perifeer bloed, hypercellulariteit van beenmerg als gevolg van proliferatie van neutrofiele granulocyten, en hepatosplenomegalie. Bijkomend kan ook infiltratie van andere organen optreden. Microscopisch vertoont beenmerg een toename van het aantal myelocyten en rijpe neutrofielen, maar geen significante dysplasie in elk van de cellijnen. De meeste neutrofielen in perifeer bloed zijn gesegmenteerd, maar bandvormen kunnen ook substantieel verhoogd zijn. Cytogenetische afwijkingen zijn afwezig in de meeste gevallen. De ziekte is traag progressief met progressieve neutrofilie gevolgd door anemie en trombocytopenie. Transformatie naar acute myeloïde leukemie kan voorkomen."},"pt":{"name":"Leucemia neutrofílica crónica"},"pl":{"name":"Przewlekła białaczka neutrofilowa"},"cs":{"name":"Chronická neutrofilní leukémie"},"uk":{"name":"Хронічна нейтрофільна лейкемія","definition":"A rare myeloproliferative neoplasm characterized by sustained peripheral blood neutrophilia, bone marrow hypercellularity due to neutrophilic granulocyte proliferation, and hepatosplenomegaly. Other organs may be infiltrated in addition. Microscopically, the bone marrow shows an increase in proportion of myelocytes and mature neutrophils, but no significant dysplasia in any of the cell lineages. Peripheral blood neutrophils are mostly segmented, although band forms may also be substantially increased. Cytogenetic abnormalities are absent in most cases. The disease is slowly progressive with progredient neutrophilia followed by anemia and thrombocytopenia. Transformation to acute myeloid leukemia may occur."},"zh":{"name":"慢性中性粒细胞白血病"},"tr":{"name":"Kronik nötrofilik lösemi"}},"xrefs":[{"source":"ICD-10","code":"D47.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"2A20.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"426734182"},{"source":"MONDO","code":"0019451","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015467","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023481","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10585","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":"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}