{"orpha":566396,"name":"Chronic mast cell leukemia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Chronic MCL"],"definition":"A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-566396/","orphanet_url":"https://www.orpha.net/en/disease/detail/566396","names":{"fr":{"name":"Leucémie chronique à mastocytes","synonyms":["LM chronique"],"definition":"Forme rare de leucémie à mastocytes caractérisée par la présence d'au moins 20 % de mastocytes dans les frottis de moelle osseuse prélevée par aspiration, souvent de morphologie mastocytaire mature, par un faible taux de prolifération et par l'absence de lésions organiques et de critères diagnostiques C (cytopénies, hépatomégalie, ascite, hypertension portale, splénomégalie, lésions squelettiques, malabsorption). L'évolution de la maladie est moins agressive que dans la forme aiguë, mais peut s'aggraver à des stades ultérieurs."},"de":{"name":"Mastzell-Leukämie, chronische","synonyms":["Chronische MCL"],"definition":"Eine seltene Form der Mastzellleukämie, die durch das Vorhandensein von mindestens 20 % Mastzellen im Knochenmarkaspirat, aber häufig durch eine reife Mastzellmorphologie, eine niedrige Proliferationsrate und das Fehlen von Organschäden und C-Befunden (Zytopenien, Hepatomegalie, Aszites, portale Hypertension, Splenomegalie, Skelettveränderungen, Malabsorption) gekennzeichnet ist. Der Krankheitsverlauf ist weniger aggressiv als bei der akuten Form, kann aber später fortschreiten."},"es":{"name":"Leucemia mastocitaria crónica","definition":"Es una forma poco frecuente de leucemia de mastocitos caracterizada por la presencia de al menos un 20% de mastocitos en el frotis de aspirado de médula ósea, a menudo morfológicamente maduros, una baja tasa de proliferación y ausencia de daño orgánico y hallazgos C (citopenias, hepatomegalia, ascitis, hipertensión portal, esplenomegalia, lesiones esqueléticas, malabsorción). El curso de la enfermedad es menos agresivo que el de la forma aguda, aunque los pacientes pueden progresar posteriormente."},"it":{"name":"Leucemia mastocitaria cronica","synonyms":["MCL cronica"],"definition":"Si tratta di una forma rara di leucemia mastocitaria, caratterizzata dalla presenza di almeno il 20% di mastociti negli strisci dell'aspirato midollare, spesso con morfologia matura, basso tasso di proliferazione, e in assenza di un danno d'organo e reperti C (citopenia, epatomegalia, ascite, ipertensione portale, splenomegalia, lesioni scheletriche, malassorbimento). Il decorso della malattia è meno aggressivo rispetto alla forma acuta, ma la malattia può progredire successivamente."},"nl":{"name":"Chronische mestcelleukemie","synonyms":["Chronische MCL"],"definition":"Een zeldzame vorm van mestcelleukemie, gekarakteriseerd door de aanwezigheid van minstens 20% mestcellen in uitstrijkjes van beenmergaspiraat, vaak met morfologie van rijpe mestcellen, lage snelheid van proliferatie, en afwezigheid van orgaanschade en C-bevindingen (cytopenie, hepatomegalie, ascites, portale hypertensie, splenomegalie, laesies van skelet, malabsorptie). Het verloop van de ziekte is minder agressief dan bij de acute vorm, maar patiënten kunnen later progressie vertonen."},"pt":{"name":"Leucemia crónica de mastócitos"},"pl":{"name":"Przewlekła białaczka mastocytowa","synonyms":["Chronic MCL"]},"cs":{"name":"Chronická mastocytární leukémie","synonyms":["Chronic MCL"]},"uk":{"name":"Хронічна тучноклітинна лейкемія","synonyms":["Хронічна MCL"],"definition":"A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress."},"zh":{"name":"慢性肥大细胞白血病","synonyms":["Chronic MCL"]},"tr":{"name":"Kronik mast hücreli lösemi","synonyms":["Kronik MCL"]}},"xrefs":[{"source":"ICD-10","code":"C94.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A21.00","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035445","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680130","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98851,"name":"Mast cell leukemia","classifications":[194,202]}],"children":[],"genes":[{"symbol":"KIT","name":"KIT proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25729733[PMID]_22324351[PMID]","hgnc":"6342","ensembl":"ENSG00000157404","omim":"164920","loci":["4q12"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}