{"orpha":300878,"name":"Hairy cell leukemia variant","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HCL-v","Leukemic reticuloendotheliosis variant","Prolymphocytic variant of HCL","Prolymphocytic variant of hairy cell leukemia"],"definition":"A rare, malignant splenic B-cell lymphoma/leukemia characterized by circulating abnormal lymphocytes with intermediate morphology between prolymphocytes and hairy cells with positive expression of CD11c and negative expression of CD25, CD123 and the BRAFV600E mutation. Manifestations include splenomegaly, elevated white blood cell (WBC) count, hyper-cellular bone marrow and anemia/thrombocytopenia, but no monocytopenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300878/","orphanet_url":"https://www.orpha.net/en/disease/detail/300878","names":{"fr":{"name":"Leucémie à tricholeucocytes variante","synonyms":["HCL variant prolymphocytique","HCL-v","Leucémie à tricholeucocytes, variant prolymphocytique"],"definition":"Leucémie/lymphome splénique B malin et rare, caractérisé par des lymphocytes circulants atypiques, présentant une morphologie intermédiaire entre les prolymphocytes et les cellules ciliées, avec une expression positive de CD11c et une expression négative de CD25, CD123 et la mutation BRAFV600E. Ses manifestations sont une splénomégalie, un nombre élevé de globules blancs, une moelle osseuse hypercellulaire et une anémie/thrombocytopénie, mais pas de monocytopénie."},"de":{"name":"Haarzell-Leukämie-Variante","synonyms":["HCL-v","Haarzellenleukämie, prolymphozytäre Variante","Prolymphozytäre Variante der HCL","Retikuloendotheliose, leukämische, Variante"],"definition":"Ein seltenes malignes B-Zell-Lymphom/Leukämie der Milz, das durch zirkulierende abnorme Lymphozyten mit einer intermediären Morphologie zwischen Prolymphozyten und Haarzellen mit positiver Expression von CD11c und negativer Expression von CD25, CD123 und der BRAFV600E-Mutation gekennzeichnet ist. Manifestationen sind Splenomegalie, erhöhte Leukozytenzahl, hyperzelluläres Knochenmark und Anämie/Thrombozytopenie, jedoch keine Monozytopenie."},"es":{"name":"Leucemia de células peludas variante","synonyms":["HCL-v","Variante de la reticuloendoteliosis leucémica","Variante prolinfocítica de la HCL","Variante prolinfocítica de la leucemia de células pilosas"],"definition":"Es un linfoma/ leucemia maligno esplénico de células B, poco frecuente y caracterizado por linfocitos circulantes atípicos con morfología intermedia entre prolinfocitos y células peludas que muestran positividad para el CD11c y negatividad para los antígenos CD25, CD123 y la mutación BRAF-V600E. Las manifestaciones incluyen esplenomegalia, leucocitosis, anemia/ trombocitopenia y médula ósea hipercelular, sin monocitopenia."},"it":{"name":"Variante della leucemia a cellule capellute","synonyms":["HCL-v","Variante della reticoloendoteliosi leucemica","Variante prolinfocitica della HCL","Variante prolinfocitica della leucemia a cellule capellute"],"definition":"La variante della leucemia a cellule capellute (HCL-V) è un linfoma/leucemia splenica a cellule B, maligna e rara, caratterizzata dalla presenza nel circolo di linfociti anomali con morfologia intermedia tra i prolinfociti e le cellule capellute che esprimono CD11c, non esprimono CD25, CD123 e presentano la mutazione BRAFV600E. I segni clinici comprendono la splenomegalia, un numero elevato dei globuli bianchi, un midollo osseo ipercellulare e l'anemia/trombocitopenia, in assenza di monocitopenia."},"nl":{"name":"Variant van haarcelleukemie","synonyms":["Prolymfocytische variant van HCL","Prolymfocytische variant van haarcelleukemie","Variant van 'hairy cell'-leukemie","Variant van leukemische reticulo-endotheliose","HCL-v"],"definition":"Een zeldzame, maligne B-cellymfoom/leukemie van milt, gekarakteriseerd door circulerende abnormale lymfocyten met een intermediaire morfologie tussen prolymfocyten en harige cellen met positief voor CD11c en negatief voor CD25, CD123 en de mutatie BRAF-V600E. Manifestaties zijn onder meer splenomegalie, verhoogd aantal witte bloedcellen (WBC), hypercellulair beenmerg, en anemie/trombocytopenie maar geen monocytopenie."},"pt":{"name":"Leucemia de células pilosas, variante"},"pl":{"name":"Wariant białaczki włochatokomórkowej","synonyms":["HCL-v","Leukemic reticuloendotheliosis variant","Prolimfocytarny wariant białaczki włochatokomórkowej","Prolimfocytarny wariant HCL"]},"cs":{"name":"Leukémie z vláskových buněk","synonyms":["HCL-v","Leukemická retikuloendotelióza","Prolymfocytární varianta HCL","Prolymfocytární leukémie z vláskových buněk"]},"uk":{"name":"Волосатоклітинний варіант лейкозу","synonyms":["HCL-v","Варіант лейкемічного ретикулоендотеліозу","Пролімфоцитарний варіант волосатоклітинної лейкемії","Пролімфоцитарний варіант ВКЛ"],"definition":"A rare, malignant splenic B-cell lymphoma/leukemia characterized by circulating abnormal lymphocytes with intermediate morphology between prolymphocytes and hairy cells with positive expression of CD11c and negative expression of CD25, CD123 and the BRAFV600E mutation. Manifestations include splenomegaly, elevated white blood cell (WBC) count, hyper-cellular bone marrow and anemia/thrombocytopenia, but no monocytopenia."},"zh":{"name":"变异型毛细胞白血病","synonyms":["网状内皮病变异型白血病"],"definition":"一种罕见的恶性脾脏B细胞淋巴瘤/白血病，其特征为淋巴细胞循环异常，形态介于幼稚淋巴细胞和毛细胞间，伴CD11c+、CD25-、CD123-和BRAFV600E基因突变，可表现为脾肿大、白细胞（WBC)计数升高、骨髓细胞增多、贫血/血小板减少，但无单核细胞减少。"},"tr":{"name":"Tüylü hücreli lösemi varyantı","synonyms":["HCL-v","HCL'nin prolenfositik varyantı","Lösemik retiküloendotelyoz varyantı","Tüylü hücreli löseminin prolenfositik varyantı"]}},"xrefs":[{"source":"ICD-10","code":"C91.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A82.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1512964057"},{"source":"MONDO","code":"0017600","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0349633","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10019054","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":"IGHV4-34","name":"immunoglobulin heavy variable 4-34","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"21599610[PMID]_19745070[PMID]","hgnc":"5650","ensembl":"ENSG00000211956","omim":null,"loci":["14q32.33"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.22,"area":"United States","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}