{"orpha":86852,"name":"B-cell prolymphocytic leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["B-PLL"],"definition":"A rare mature B-cell neoplasm characterized by clonal proliferation of B-cell prolymphocytes, with prolymphocytes constituting more than 55% of lymphoid cells in peripheral blood. IG genes are clonally rearranged. Neoplastic cells are present in the bone marrow, peripheral blood, and spleen. Patients usually present with B symptoms, massive splenomegaly but absent or minimal lymphadenopathy, rapidly increasing lymphocyte count, anemia, and thrombocytopenia. Therapy response is poor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86852/","orphanet_url":"https://www.orpha.net/en/disease/detail/86852","names":{"fr":{"name":"Leucémie prolymphocytaire à cellules B","synonyms":["B-PLL"],"definition":"Tumeur rare des cellules B matures caractérisée par une prolifération clonale des prolymphocytes B, les prolymphocytes constituent plus de 55 % des cellules lymphoïdes du sang périphérique. On observe un réarrangement clonal des gènes IG. Les cellules néoplasiques sont présentes dans la moelle osseuse, le sang périphérique et la rate. Les patients manifestent généralement des symptômes B et une importante splénomégalie. On observe dans certains cas une lymphadénopathie légère, une augmentation rapide du nombre de lymphocytes, une anémie et une thrombocytopénie. La réponse au traitement est faible."},"de":{"name":"B-Zell-Prolymphozytenleukämie","synonyms":["B-PLL","Prolymphozytenleukämie vom B-Zell-Typ"],"definition":"Eine seltene reife B-Zell-Neoplasie, die durch klonale Proliferation von B-Zell-Prolymphozyten gekennzeichnet ist, die mehr als 55% der lymphatischen Zellen im peripheren Blut ausmachen. Die IG-Gene sind klonal rearrangiert. Neoplastische Zellen finden sich im Knochenmark, im peripheren Blut und in der Milz. Die Patienten präsentieren sich typischerweise mit B-Symptomen, massiver Splenomegalie, aber fehlender oder minimaler Lymphadenopathie, rasch ansteigender Lymphozytenzahl, Anämie und Thrombozytopenie. Das Therapieansprechen ist schlecht."},"es":{"name":"Leucemia prolinfocítica de células B","synonyms":["B-PLL"],"definition":"Es una neoplasia poco frecuente de células B maduras caracterizada por la proliferación clonal de prolinfocitos de células B, constituyendo más del 55% de las células linfoides en la sangre periférica. Los genes IG experimentan reordenamientos clonales. Las células neoplásicas están presentes en la médula ósea, la sangre periférica y el bazo. Los pacientes se suelen presentar con síntomas B, esplenomegalia masiva aunque con linfadenopatía mínima o ausente, recuentos de linfocitos en rápido aumento, anemia y trombocitopenia. La respuesta a la terapia es deficiente."},"it":{"name":"Leucemia prolinfocitica a cellule B","synonyms":["B-PLL"],"definition":"Si tratta di una neoplasia rara a cellule B mature, caratterizzata dalla proliferazione clonale dei prolinfociti delle cellule B nella quale i prolinfociti rappresentano oltre il 55% delle cellule linfoidi nel sangue periferico. I geni delle immunoglobuline presentano riarrangiamenti clonali. Le cellule neoplastiche sono presenti nel midollo osseo, nel sangue periferico e nella milza. I pazienti di solito presentano sintomi correlai alle cellule B, splenomegalia marcata, scarsa o assente linfoadenopatia, un rapido aumento del numero dei linfociti, anemia e trombocitopenia. La risposta alla terapia non è soddisfacente."},"nl":{"name":"B-cel-prolymfocytenleukemie","synonyms":["B-PLL"],"definition":"Een zeldzaam neoplasma van rijpe B-cellen, gekarakteriseerd door klonale proliferatie van B-celprolymfocyten, waarbij prolymfocyten meer dan 55% van de lymfoïde cellen in perifeer bloed uitmaken. IG-genen zijn klonaal herschikt. Neoplastische cellen zijn aanwezig in beenmerg, perifeer bloed, en milt. Patiënten presenteren zich meestal met B-symptomen, massale splenomegalie maar geen of minimale lymfadenopathie, snelle toename van aantal lymfocyten, anemie, en trombocytopenie. De respons op therapie is ondermaats."},"pt":{"name":"Leucemia prolinfocítica de células B"},"pl":{"name":"Białaczka prolimfocytowa B-komórkowa","synonyms":["B-plL"]},"cs":{"name":"B-prolymfocytární leukémie","synonyms":["B-PLL"]},"uk":{"name":"В-клітинна пролімфоцитарна лейкемія","synonyms":["B-PLL"],"definition":"A rare mature B-cell neoplasm characterized by clonal proliferation of B-cell prolymphocytes, with prolymphocytes constituting more than 55% of lymphoid cells in peripheral blood. IG genes are clonally rearranged. Neoplastic cells are present in the bone marrow, peripheral blood, and spleen. Patients usually present with B symptoms, massive splenomegaly but absent or minimal lymphadenopathy, rapidly increasing lymphocyte count, anemia, and thrombocytopenia. Therapy response is poor."},"zh":{"name":"B细胞幼淋巴细胞白血病","synonyms":["B-PLL"]},"tr":{"name":"B hücreli prolenfositik lösemi","synonyms":["B-PLL"]}},"xrefs":[{"source":"ICD-10","code":"C91.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A82.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1997215876"},{"source":"MONDO","code":"0019461","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054403","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0475801","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8223","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073480","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":300846,"name":"Aggressive B-cell non-Hodgkin lymphoma","classifications":[194,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}