{"orpha":566393,"name":"Acute mast cell leukemia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Acute MCL"],"definition":"A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-566393/","orphanet_url":"https://www.orpha.net/en/disease/detail/566393","names":{"fr":{"name":"Leucémie aiguë à mastocytes","synonyms":["LM aiguë"],"definition":"Mastocytose systémique rare caractérisée par la présence d'au moins 20 % de mastocytes habituellement immatures et atypiques dans les frottis de moelle osseuse prélevée par aspiration. Dans la leucémie à mastocytes classique, les mastocytes représentent au moins 10 % des globules blancs périphériques, bien que le variant aleucémique avec moins de 10 % de mastocytes soit plus fréquent. Les critères diagnostiques C (cytopénies, hépatomégalie, ascites, hypertension portale, splénomégalie, lésions squelettiques, malabsorption), signes de lésions organiques dues à l'infiltration des mastocytes, sont généralement présents au moment du diagnostic, contrairement aux lésions cutanées qui sont absentes dans la plupart des cas. Le pronostic est généralement défavorable."},"de":{"name":"Mastzell-Leukämie, akute","synonyms":["Akute MCL"],"definition":"Eine seltene systemische Mastozytose, die durch das Vorhandensein von mindestens 20 % meist unreifen und atypischen Mastzellen in Abstrichen von Knochenmarkaspiraten gekennzeichnet ist. Bei der klassischen Mastzellleukämie machen Mastzellen mindestens 10 % der peripheren weißen Blutkörperchen aus, obwohl die aleukämische Variante mit weniger als 10 % Mastzellen häufiger vorkommt. C-Befunde (Zytopenien, Hepatomegalie, Aszites, portale Hypertension, Splenomegalie, Skelettläsionen, Malabsorption), die auf eine Organschädigung durch die Mastzellinfiltration hinweisen, sind in der Regel bei der Diagnose vorhanden, während Hautläsionen in den meisten Fällen fehlen. Die Prognose ist im Allgemeinen schlecht."},"es":{"name":"Leucemia mastocitaria aguda","definition":"Es una mastocitosis sistémica poco frecuente caracterizada por la presencia de al menos un 20% de mastocitos típicamente inmaduros y atípicos en el frotis de aspirado de médula ósea. En la leucemia mastocitaria clásica, los mastocitos representan al menos el 10% de los leucocitos periféricos, aunque la variante aleucémica con menos del 10% de mastocitos es más frecuente. Los hallazgos C (citopenias, hepatomegalia, ascitis, hipertensión portal, esplenomegalia, lesiones esqueléticas, malabsorción), indicativos de daño orgánico causado por la infiltración de mastocitos, suelen estar presentes al diagnóstico, mientras que las lesiones cutáneas están ausentes en la mayoría de los casos. Por lo general, el pronóstico es desfavorable."},"it":{"name":"Leucemia mastocitaria acuta","synonyms":["MCL acuta"],"definition":"Si tratta di una mastocitosi sistemica rara, caratterizzata dalla presenza del 20% almeno di mastociti immaturi e atipici negli strisci dell'aspirato midollare. Nella leucemia mastocitaria classica, i mastociti rappresentano almeno il 10% dei globuli bianchi periferici, sebbene la variante aleucemica con meno del 10% di mastociti sia la più comune. I reperti C (citopenia, epatomegalia, ascite, ipertensione portale, splenomegalia, lesioni scheletriche, malassorbimento), indicativi del danno d'organo secondario all'infiltrazione dei mastociti, di solito sono presenti alla diagnosi, mentre nella maggior parte dei pazienti non si osservano lesioni cutanee. Di solito la prognosi è sfavorevole."},"nl":{"name":"Acute mestcelleukemie","synonyms":["Acute MCL"],"definition":"Een zeldzame systemische mastocytose, gekarakteriseerd door de aanwezigheid van minstens 20% meestal onrijpe en atypische mestcellen in uitstrijkjes van aspiraat van beenmerg. Bij klassieke mestcelleukemie vertegenwoordigen mestcellen minstens 10% van de perifere witte bloedcellen, maar de aleukemische variant met minder dan 10% mestcellen komt vaker voor. C-bevindingen (cytopenie, hepatomegalie, ascites, portale hypertensie, splenomegalie, laesies van skelet, malabsorptie), die wijzen op orgaanschade door infiltratie van mestcellen, zijn meestal aanwezig bij de diagnose, terwijl huidlaesies in de meeste gevallen afwezig zijn. De prognose is doorgaans slecht."},"pt":{"name":"Leucemia aguda de mastócitos"},"pl":{"name":"Ostra białaczka mastocytowa","synonyms":["Acute MCL"]},"cs":{"name":"Akutní mastocytární leukémie","synonyms":["Acute MCL"]},"uk":{"name":"Гостра тучноклітинна лейкемія","synonyms":["Гостра MCL"],"definition":"A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor."},"zh":{"name":"急性肥大细胞白血病","synonyms":["Acute MCL"]},"tr":{"name":"Akut mast hücreli lösemi","synonyms":["Akut 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":"0035444","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680128","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}