{"orpha":86871,"name":"T-cell prolymphocytic leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["T-PLL","T-cell chronic lymphocytic leukemia"],"definition":"A rare mature T-cell neoplasm characterized by proliferation of small to medium-sized prolymphocytes with a mature post-thymic T-cell phenotype, involving the peripheral blood, bone marrow, lymph nodes, liver, spleen, and sometimes the skin. T-cell receptor genes are clonally rearranged. Patients typically present with hepatosplenomegaly, generalized lymphadenopathy, high leukocyte count with normal serum immunoglobulins, anemia, and thrombocytopenia. HTLV-1 serology is negative. The disease course is aggressive with generally poor prognosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86871/","orphanet_url":"https://www.orpha.net/en/disease/detail/86871","names":{"fr":{"name":"Leucémie prolymphocytaire à cellules T","synonyms":["LPL-T","Leucémie lymphocytaire T chronique","T-PLL"],"definition":"Tumeur rare des cellules T matures caractérisée par la prolifération de prolymphocytes de petite à moyenne taille, avec un phénotype de cellules T matures post-thymiques, affectant le sang périphérique, la moelle osseuse, les ganglions lymphatiques, le foie, la rate et parfois la peau. On observe un réarrangement clonal des gènes des récepteurs des cellules T. Les patients présentent généralement une hépatosplénomégalie, une lymphadénopathie généralisée, un nombre élevé de leucocytes avec des immunoglobulines sériques normales, une anémie et une thrombocytopénie. La sérologie HTLV-1 est négative. La maladie est agressive et son pronostic est généralement réservé."},"de":{"name":"T-Zell-Prolymphozytenleukämie","synonyms":["Prolymphozytenleukämie vom T-Zell-Typ","T-PLL"],"definition":"Eine seltene Neoplasie reifer T-Zellen, die durch eine Proliferation kleiner bis mittelgroßer Prolymphozyten mit einem reifen postthymischen T-Zell-Phänotyp gekennzeichnet ist und das periphere Blut, das Knochenmark, die Lymphknoten, die Leber, die Milz und gelegentlich die Haut befällt. Die T-Zell-Rezeptorgene sind klonal rearrangiert. Die Patienten zeigen typischerweise Hepatosplenomegalie, generalisierte Lymphadenopathie, erhöhte Leukozytenzahlen bei normalen Serumimmunglobulinen, Anämie und Thrombozytopenie. Die HTLV-1-Serologie ist negativ. Der Krankheitsverlauf ist aggressiv und die Prognose im Allgemeinen schlecht."},"es":{"name":"Leucemia prolinfocítica de células T","synonyms":["Leucemia linfocítica crónica de células T","T-PLL"],"definition":"Es una neoplasia poco frecuente de células T maduras caracterizada por la proliferación de prolinfocitos de pequeño a mediano tamaño con fenotipo de células T post-tímicas maduras, afectando a la sangre periférica, la médula ósea, los ganglios linfáticos, el hígado, el bazo y, en ocasiones, la piel. Los genes del receptor de células T experimentan reordenamientos clonales. Los pacientes suelen presentar hepatoesplenomegalia, linfadenopatía generalizada, recuento leucocitario elevado con niveles normales de inmunoglobulinas séricas, anemia y trombocitopenia. La serología para HTLV-1 es negativa. El curso de la enfermedad es agresivo y, por lo general, el pronóstico es desfavorable."},"it":{"name":"Leucemia prolinfocitica a cellule T","synonyms":["Leucemia linfocitica cronica a cellule T","T-PLL"],"definition":"Si tratta di una neoplasia rara a cellule T mature, caratterizzata dalla proliferazione di prolinfociti di piccole e medie dimensioni con il fenotipo delle cellule T post-timiche mature, che interessa il sangue periferico, il midollo osseo, i linfonodi, il fegato, la milza e, occasionalmente, la cute. I geni dei recettori delle cellule T presentano riarrangiamenti clonali. Di solito i pazienti presentano epatosplenomegalia, linfoadenopatia generalizzata, un elevato numero di leucociti con immunoglobuline sieriche normali, anemia e trombocitopenia. Gli anticorpi HTLV-1 sono negativi. Si tratta di una malattia aggressiva, di solito associata ad una prognosi sfavorevole."},"nl":{"name":"T-cel-prolymfocytenleukemie","synonyms":["T-PLL","T-cel chronische lymfocytaire leukemie"],"definition":"Een zeldzaam neoplasma van rijpe T-cellen, gekarakteriseerd door proliferatie van kleine tot middelgrote prolymfocyten met een fenotype van rijpe postthymische T-cellen, met betrokkenheid van perifeer bloed, beenmerg, lymfeklieren, lever, milt, en soms huid. Genen voor T-celreceptoren zijn klonaal herschikt. patiënten presenteren zich doorgaans met hepatosplenomegalie, gegeneraliseerde lymfadenopathie, hoog aantal leukocyten met normale gehaltes van immunoglobulinen in serum, anemie, en trombocytopenie. Serologie van HTLV-1 is negatief. De ziekte toont een agressief verloop en overwegend slechte prognose."},"pt":{"name":"Leucemia prolinfocítica de células T"},"pl":{"name":"Białaczka prolimfocytowa T-komórkowa","synonyms":["Przewlekła białaczka limfocytarna z komórek T","T-plL"]},"cs":{"name":"T-prolymfocytární leukémie","synonyms":["T-PLL","Chronická T-lymfocytární leukémie"]},"uk":{"name":"Т-клітинна пролімфоцитарна лейкемія","synonyms":["Т-клітинна хронічна лімфоцитарна лейкемія","T-PLL"],"definition":"A rare mature T-cell neoplasm characterized by proliferation of small to medium-sized prolymphocytes with a mature post-thymic T-cell phenotype, involving the peripheral blood, bone marrow, lymph nodes, liver, spleen, and sometimes the skin. T-cell receptor genes are clonally rearranged. Patients typically present with hepatosplenomegaly, generalized lymphadenopathy, high leukocyte count with normal serum immunoglobulins, anemia, and thrombocytopenia. HTLV-1 serology is negative. The disease course is aggressive with generally poor prognosis."},"zh":{"name":"T细胞幼淋巴细胞白血病","synonyms":["T细胞慢性淋巴细胞白血病"]},"tr":{"name":"T-hücreli prolenfositik lösemi","synonyms":["T-PLL","T hücreli kronik lenfositik lösemi"]}},"xrefs":[{"source":"ICD-10","code":"C91.6","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A90.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"352523899"},{"source":"MONDO","code":"0019468","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015461","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2363142","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13731","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10042985","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":171918,"name":"T-cell non-Hodgkin lymphoma","classifications":[194,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"WHO Classification of Tumours[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"WHO Classification of Tumours[OTHER]"}],"phenotypes":null}