{"orpha":98851,"name":"Mast cell leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A very rare malignant systemic mastocytosis (SM) characterized by a huge infiltration of bone marrow, and often of blood, by abnormal mast cells (MC) which frequently manifests with organ dysfunction (liver, spleen, peritoneum, bones, and marrow).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98851/","orphanet_url":"https://www.orpha.net/en/disease/detail/98851","names":{"fr":{"name":"Leucémie à mastocytes","synonyms":["Leucémie mastocytaire"],"definition":"Mastocytose systémique maligne (MS) très rare, caractérisée par une prolifération anormale de mastocytes infiltrant massivement la moelle osseuse, et souvent le sang, qui se manifeste généralement par un dysfonctionnement des organes (foie, rate, péritoine, os et moelle)."},"de":{"name":"Mastzell-Leukämie","definition":"Eine sehr seltene maligne systemische Mastozytose (SM), die durch eine massive Infiltration des Knochenmarks und oft auch des Blutes durch abnorme Mastzellen (MC) gekennzeichnet ist und häufig mit Organfunktionsstörungen (Leber, Milz, Bauchfell, Knochen und Knochenmark) einhergeht."},"es":{"name":"Leucemia mastocitaria","definition":"Es una mastocitosis sistémica maligna (MS) muy poco frecuente caracterizada por una gran infiltración de la médula ósea, y a menudo de la sangre, por mastocitos (MC) anómalos, manifestándose, por lo general, con disfunción orgánica (hígado, bazo, peritoneo, huesos y médula)."},"it":{"name":"Leucemia mastocitaria","definition":"La leucemia mastocitaria (MCL) è una mastocitosi sistemica (MS) maligna molto rara, caratterizzata da una massiccia infiltrazione del midollo osseo e, spesso, del sangue da parte di mastociti (MC) anomali, che spesso si manifesta con la disfunzione di diversi organi (fegato, milza, peritoneo, ossa e midollo osseo)."},"nl":{"name":"Mestcelleukemie","definition":"Een zeer zeldzame maligne systemische mastocytose (SM), gekarakteriseerd door enorme infiltratie van beenmerg (BM), en vaak ook van bloed, door abnormale mestcellen (MC's), en vaak met orgaandisfunctie (lever, milt, buikvlies, beenderen, en beenmerg) als manifestatie."},"pt":{"name":"Leucemia de mastócitos"},"pl":{"name":"Białaczka mastocytowa"},"cs":{"name":"Leukémie z žírných buněk"},"uk":{"name":"Мастоцитарна лейкемія","definition":"A very rare malignant systemic mastocytosis (SM) characterized by a huge infiltration of bone marrow, and often of blood, by abnormal mast cells (MC) which frequently manifests with organ dysfunction (liver, spleen, peritoneum, bones, and marrow)."},"zh":{"name":"肥大细胞白血病","definition":"该病是一种非常罕见的恶性全身性肥大细胞增多症(SM)，其特征是异常肥大细胞(MC)大量侵袭骨髓，血液侵袭也常见，通常表现为器官功能障碍(肝、脾、腹膜、骨骼和骨髓)。"},"tr":{"name":"Mast hücreli lösemi"}},"xrefs":[{"source":"ICD-10","code":"C94.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A21.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1359806843"},{"source":"MONDO","code":"0020334","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007946","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023461","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056450","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":158796,"name":"OBSOLETE: Classic mast cell leukemia","status":"inactive"},{"type":"Referred to","orpha":158799,"name":"OBSOLETE: Aleukemic mast cell leukemia","status":"inactive"}],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":2467,"name":"Systemic mastocytosis","classifications":[194,202]}],"children":[{"orpha":566393,"name":"Acute mast cell leukemia","type":"Clinical subtype"},{"orpha":566396,"name":"Chronic mast cell leukemia","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":566393,"name":"Acute mast cell leukemia"}},{"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"],"via":{"orpha":566396,"name":"Chronic mast cell leukemia"}}],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"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}