{"orpha":58017,"name":"Classic hairy cell leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HCL-C","Leukemic reticuloendotheliosis"],"definition":"A rare, slowly progressive, chronic leukemia characterized by presence of abnormal B-lymphocytes (medium sized with abundant irregular pale cytoplasm, hair-like cytoplasmic projections/ruffled cytoplasmic border, a round or bean-shaped nucleus and absent nucleoli) in the blood or bone marrow, spleen and peripheral blood pancytopenia, notable monocytopenia, and marked susceptibility to infection. The characteristic immunophenotype is CD11c+, CD25+, CD103+ and CD123+ with a BRAF mutation in most cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-58017/","orphanet_url":"https://www.orpha.net/en/disease/detail/58017","names":{"fr":{"name":"Leucémie à tricholeucocytes classique","synonyms":["HLC-C","Réticuloendothéliose leucémique"],"definition":"Leucémie chronique rare, lentement progressive, caractérisée par la présence de lymphocytes B anormaux (de taille moyenne, le cytoplasme étant abondant, irrégulier, pâle ou légèrement basophile, avec de fines projections cytoplasmiques chevelues/une bordure cytoplasmique irrégulière, un noyau rond ou en forme de haricot dont le nucléole n'est pas visible) dans le sang ou la moelle osseuse, une pancytopénie affectant la rate et le sang périphérique, une importante monocytopénie et une sensibilité marquée aux infections. L'immunophénotypage caractéristique montre les marqueurs CD11c+, CD25+, CD103+ et CD123+ et la présence de la mutation BRAF dans la plupart des cas."},"de":{"name":"Haarzell-Leukämie, klassische","synonyms":["HCL-C","HZL, klassische","Retikuloendotheliose, leukämische"],"definition":"Die Haarzell-Leukämie ist eine seltene, langsam fortschreitende, chronische Leukämie, die durch das Vorhandensein abnormaler B-Lymphozyten im Blut oder Knochenmark, Milz und peripherem Blut, Panzytopenie, bemerkenswerter Monozytopenie und ausgeprägter Infektionsanfälligkeit gekennzeichnet ist. Der Name bezieht sich auf das abnorme Aussehen der Lymphozyten (mittelgroß mit reichlich unregelmäßigem, blassem Zytoplasma, haarähnlichen zytoplasmatischen Vorsprüngen/gekräuseltem zytoplasmatischem Rand, rundem oder bohnenförmigem Nukleus und fehlenden Nukleoli). Der charakteristische Immunphänotyp ist CD11c+, CD25+, CD103+ und CD123+, wobei in den meisten Fällen eine <i>BRAF</i>-Mutation vorliegt."},"es":{"name":"Leucemia de células pilosas clásica","synonyms":["LCP-C","Leucemia de células peludas clásica","Reticuloendoteliosis leucémica","Tricoleucemia"],"definition":"Es una leucemia crónica, poco frecuente y de progresión lenta, que se caracteriza por la presencia de linfocitos B patológicos (tamaño mediano con abundante citoplasma pálido irregular, proyecciones citoplasmáticas a modo de ''pelos''/borde citoplasmático ondulado, núcleo redondo u oval indentado y ausencia de nucléolos) en sangre o médula ósea, pancitopenia esplénica y en sangre periférica monocitopenia significativa y marcada susceptibilidad a las infecciones. El inmunofenotipo característico es CD11c+, CD25+, CD103+ y CD123+, con una mutación BRAF en la mayoría de los casos."},"it":{"name":"Leucemia classica a cellule capellute","synonyms":["Reticoloendoteliosi leucemica"],"definition":"La leucemia classica a cellule capellute (LCC) è una leucemia cronica rara a progressione lenta, caratterizzata dalla presenza di linfociti B anomali (di medie dimensioni con abbondante citoplasma pallido irregolare, proiezioni citoplasmatiche simili ai capelli con bordo citoplasmatico increspato, nucleo tondo o a forma di fagiolo e assenza di nucleoli) nel sangue o nel midollo osseo, pancitopenia a livello della milza e del sangue periferico, grave monocitopenia e marcata suscettibilità alle infezioni. L'immunofenotipo caratteristico è CD11c+, CD25+, CD103+ e CD123+ con una mutazione del gene BRAF nella maggior parte dei pazienti."},"nl":{"name":"Klassieke haarcelleukemie","synonyms":["'Hairy cell'-leukemie","HCL-c","Leukemische reticulo-endotheliose","Pluizebolleukemie"],"definition":"Een zeldzame, traag progressieve, chronische leukemie, gekarakteriseerd door aanwezigheid van abnormale B-lymfocyten (middelgroot met overvloedig, onregelmatig en bleek cytoplasma, harige cytoplasmatische uitsteeksels/rafelige cytoplasmarand, ronde of boonvormige nucleus en afwezige nucleoli) in bloed of beenmerg, pancytopenie van milt en perifeer bloed, opmerkelijke monocytopenie, en opvallende susceptibiliteit voor infectie. Het typische immuunfenotype is CD11c+, CD25+, CD103+ en CD123+ met in de meeste gevallen een BRAF-mutatie."},"pt":{"name":"Leucemia de células cabeludas","synonyms":["Reticulo-endoteliose leucémica"]},"pl":{"name":"Białaczka włochatokomórkowa","synonyms":["HCL","Leukemic reticuloendotheliosis"]},"cs":{"name":"Leukémie z vlasatých buněk","synonyms":["VBL","Leukemická retikuloendotelióza","Vlasatobuněčná leukémie"]},"uk":{"name":"Класичний волосатоклітинний лейкоз","synonyms":["HCL-C","Лейкемічний ретикулоендотеліоз"],"definition":"A rare, slowly progressive, chronic leukemia characterized by presence of abnormal B-lymphocytes (medium sized with abundant irregular pale cytoplasm, hair-like cytoplasmic projections/ruffled cytoplasmic border, a round or bean-shaped nucleus and absent nucleoli) in the blood or bone marrow, spleen and peripheral blood pancytopenia, notable monocytopenia, and marked susceptibility to infection. The characteristic immunophenotype is CD11c+, CD25+, CD103+ and CD123+ with a BRAF mutation in most cases."},"zh":{"name":"经典型毛细胞白血病","synonyms":["白血病性网状内皮组织增殖"]},"tr":{"name":"Klasik tüylü hücreli lösemi","synonyms":["HCL-C","Lösemik retiküloendotelyoz"]}},"xrefs":[{"source":"ICD-10","code":"C91.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A82.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"82152208"},{"source":"MONDO","code":"18935","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007943","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023443","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6560","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10019053","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":300842,"name":"Indolent B-cell non-Hodgkin lymphoma","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"BRAF","name":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"21663470[PMID]_24241536[PMID]","hgnc":"1097","ensembl":"ENSG00000157764","omim":"164757","loci":["7q34"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.29,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.12,"area":"Europe","status":"Validated","source":"22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.33,"area":"United States","status":"Validated","source":"16150940[PMID]_National Cancer OTHERitute[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.29,"area":"United Kingdom","status":"Validated","source":"7918034[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.24,"area":"Israel","status":"Not yet validated","source":"17044834[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.47,"area":"Iceland","status":"Validated","source":"12111650[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.035,"area":"Hong Kong","status":"Validated","source":"11135356[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.37,"area":"Denmark","status":"Validated","source":"21122460[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}