{"orpha":454714,"name":"Plasma cell leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PCL"],"definition":"A rare plasma cell neoplasm characterized by peripheral plasmacytosis, usually with extensive and diffuse infiltration of the bone marrow, and monoclonal paraproteinemia. Neoplastic plasma cells may also be found in extramedullary sites, such as the liver or spleen, among others. Most cases present as primary plasma cell leukemia without previous diagnosis of myeloma. The condition can also represent leukemic transformation of plasma cell myeloma (secondary plasma cell leukemia). Clinical manifestations include lymphadenopathy, organomegaly, renal failure, bone marrow failure, and peripheral neuropathies. High serum levels of lactate dehydrogenase and beta2-microglobulin, as well as hypercalcemia (potentially leading to hypercalcemic crisis) are typically observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-454714/","orphanet_url":"https://www.orpha.net/en/disease/detail/454714","names":{"fr":{"name":"Leucémie à plasmocytes","definition":"Néoplasie plasmocytaire rare caractérisée par une plasmocytose périphérique, généralement accompagnée d'une infiltration étendue et diffuse de la moelle osseuse, et une paraprotéinémie monoclonale. Les plasmocytes néoplasiques peuvent également envahir les sites extramédullaires, tels que le foie ou la rate. La plupart des cas se présentent sous la forme d'une leucémie plasmocytaire primaire sans diagnostic préalable de myélome. La maladie peut également représenter une transformation leucémique d'un myélome plasmocytaire (leucémie plasmocytaire secondaire). Les signes cliniques sont une lymphadénopathie, une organomégalie, une insuffisance rénale, une insuffisance de la moelle osseuse et des neuropathies périphériques. On observe généralement des taux sériques élevés de lactate déshydrogénase et de béta-2-microglobuline, ainsi qu'une hypercalcémie (pouvant causer une crise hypercalcémique)."},"de":{"name":"Plasmazell-Leukämie","synonyms":["PCL"],"definition":"Eine seltene Plasmazell-Neoplasie, die durch eine periphere Plasmozytose, in der Regel mit ausgedehnter und diffuser Infiltration des Knochenmarks, und eine monoklonale Paraproteinämie gekennzeichnet ist. Neoplastische Plasmazellen können auch in extramedullären Organen wie der Leber oder der Milz gefunden werden. In den meisten Fällen handelt es sich um eine primäre Plasmazellleukämie, ohne dass zuvor ein Myelom diagnostiziert wurde. Die Erkrankung kann auch eine leukämische Transformation eines Plasmazellmyeloms darstellen (sekundäre Plasmazellleukämie). Zu den klinischen Manifestationen gehören Lymphadenopathie, Organomegalie, Nierenversagen, Knochenmarkversagen und periphere Neuropathien. Typischerweise werden hohe Serumspiegel von Laktatdehydrogenase und Beta2-Mikroglobulin sowie eine Hyperkalzämie (die zu einer hyperkalzämischen Krise führen kann) beobachtet."},"es":{"name":"Leucemia de células plasmáticas","synonyms":["LCP"],"definition":"Es una neoplasia de células plasmáticas poco frecuente caracterizada por plasmocitosis periférica, por lo general, con infiltración extensa y difusa de la médula ósea y paraproteinemia monoclonal. Las células plasmáticas neoplásicas también se pueden encontrar en sitios extramedulares, tales como el hígado o el bazo, entre otros. La mayoría de los casos se presentan como una leucemia de células plasmáticas primaria sin un diagnóstico previo de mieloma. El trastorno también puede incluir la transformación leucémica del mieloma de células plasmáticas (leucemia de células plasmáticas secundaria). Las manifestaciones clínicas incluyen linfadenopatía, organomegalia, insuficiencia renal y de la médula ósea, así como neuropatías periféricas. Por lo general, se observan niveles séricos elevados de lactato deshidrogenasa y microglobulina beta2, así como hipercalcemia (que puede conducir a una crisis hipercalcémica)."},"it":{"name":"Leucemia plasmacellulare","synonyms":["PCL"],"definition":"Si tratta di una neoplasia plasmacellulare rara, caratterizzata da plasmocitosi periferica, di solito con un'infiltrazione estesa e diffusa del midollo osseo, e da paraproteinemia monoclonale. Le plasmacellule neoplastiche possono localizzarsi anche in siti extramidollari, come il fegato e la milza. La maggior parte dei pazienti presenta una leucemia plasmacellulare primitiva in assenza di una precedente diagnosi di mieloma. La malattia può anche rappresentare l'evoluzione leucemica del mieloma plasmacellulare (leucemia plasmacellulare secondaria). I segni clinici comprendono la linfoadenopatia, l'organomegalia, l'insufficienza renale, l'insufficienza midollare e le neuropatie periferiche. In genere la malattia si associa a livelli elevati di lattato deidrogenasi e di beta2-microglobulina nel siero, e ad ipercalcemia (che può causare crisi ipercalcemiche)."},"nl":{"name":"Plasmacelleukemie","synonyms":["PCL"],"definition":"Een zeldzaam neoplasma van plasmacel, gekarakteriseerd door perifere plasmacytose, meestal met extensieve en diffuse infiltratie van beenmerg, en monoklonale paraproteïnemie. Neoplastische plasmacellen kunnen ook aangetroffen worden op extramedullaire plaatsen, zoals onder meer lever of milt. De meeste gevallen presenteren zich met primaire plasmacelleukemie, zonder eerdere diagnose van myeloom. De aandoening vertegenwoordigt ook leukemische transformatie van plasmacelmyeloom (secondaire plasmacelleukemie). Klinische manifestaties zijn onder meer lymfadenopathie, organomegalie, nierfalen, beenmergfalen, en perifere neuropathieën. Hoge gehaltes van lactaatdehydrogenase en bèta2-microglobuline, alsook hypercalciëmie (die potentieel leidt tot hypocalciëmische crisis) worden doorgaans waargenomen."},"pt":{"name":"Leucemia por plasmócitos"},"pl":{"name":"Białaczka plazmocytowa","synonyms":["PCL"]},"cs":{"name":"Plazmocelulární leukémie","synonyms":["PCL"]},"uk":{"name":"Плазмоклітинна лейкемія","synonyms":["PCL"],"definition":"A rare plasma cell neoplasm characterized by peripheral plasmacytosis, usually with extensive and diffuse infiltration of the bone marrow, and monoclonal paraproteinemia. Neoplastic plasma cells may also be found in extramedullary sites, such as the liver or spleen, among others. Most cases present as primary plasma cell leukemia without previous diagnosis of myeloma. The condition can also represent leukemic transformation of plasma cell myeloma (secondary plasma cell leukemia). Clinical manifestations include lymphadenopathy, organomegaly, renal failure, bone marrow failure, and peripheral neuropathies. High serum levels of lactate dehydrogenase and beta2-microglobulin, as well as hypercalcemia (potentially leading to hypercalcemic crisis) are typically observed."},"zh":{"name":"浆细胞白血病","synonyms":["PCL"]},"tr":{"name":"Plazma hücreli lösemi","synonyms":["PCL"]}},"xrefs":[{"source":"ICD-10","code":"C90.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A83.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2048216430"},{"source":"MONDO","code":"0018689","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007952","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023484","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9373","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10035222","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98282,"name":"Plasma cell tumor","classifications":[194,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.04,"area":"Europe","status":"Validated","source":"20664057[PMID]"}],"phenotypes":null}