{"orpha":67038,"name":"B-cell chronic lymphocytic leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["B-CLL","B-cell chronic lymphoid leukemia","CLL","CLL/SLL","Chronic lymphocytic leukemia","Small lymphocytic lymphoma"],"definition":"B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-67038/","orphanet_url":"https://www.orpha.net/en/disease/detail/67038","names":{"fr":{"name":"Leucémie lymphocytaire chronique à cellules B","synonyms":["B-CLL","Lymphome lymphocytaire à petits lymphocytes"],"definition":"Type de lymphome B non hodgkinien représentant la forme de leucémie la plus fréquente dans les pays occidentaux, affectant les sujets âgés (âge moyen se situant entre 67 et 72 ans) avec une légère prédominance masculine (1,7:1), caractérisé par un tableau clinique très variable. Les patients peuvent être asymptomatiques ou présenter des symptômes non spécifiques liés aux lymphocytes  B, tels qu'une perte de poids involontaire, une fatigue importante, une fièvre (en l'absence d'infection) et des sueurs nocturnes, ainsi qu'une lymphadénopathie cervicale, une splénomégalie et des infections fréquentes. Certains patients peuvent également développer des complications auto-immunes telles qu'une anémie hémolytique auto-immune ou une thrombocytopénie immunitaire. L'évolution clinique est extrêmement hétérogène et la survie varie de quelques mois à plusieurs décennies."},"de":{"name":"B-Zell-Leukämie, chronische lymphatische","synonyms":["B-CLL","CLL","CLL/SLL","Chronische lymphatische Leukämie","Chronische lymphatische Leukämie vom B-Zell-Typ","Kleinzelliges lymphozytisches Lymphom"]},"es":{"name":"Leucemia linfocítica crónica de células B","synonyms":["B-CLL","CLL","CLL/SLL","LLC","LLC-B","LLC/LLCP","Leucemia linfoide crónica","Leucemia linfoide crónica de células B","Linfoma linfocítico de células pequeñas"],"definition":"Es un tipo de linfoma no Hodgkin de células B y la forma más común de leucemia en los países occidentales, presentándose en la edad adulta tardía (67-72 años de promedio) con un ligero predominio masculino (1,7: 1). Está caracterizada por una presentación clínica muy variable que puede incluir enfermedad asintomática o síntomas B inespecíficos, tales como pérdida de peso involuntaria, fatiga, fiebre (sin evidencia de infección) y sudores nocturnos, así como linfadenopatía cervical, esplenomegalia e infecciones frecuentes. Algunos afectados también pueden desarrollar complicaciones autoinmunes, tales como anemia hemolítica autoinmune o trombocitopenia inmune. El curso clínico es extremadamente heterogéneo, con una supervivencia que varía desde unos pocos meses hasta varias décadas."},"it":{"name":"Leucemia linfatica cronica a cellule B","synonyms":["B-CLL","CLL","CLL/SLL","Leucemia linfatica cronica","Leucemia linfoide cronica a cellule B","Piccolo linfoma linfocitico"],"definition":"La leucemia linfatica cronica a cellule B (B-CLL) è un tipo di linfoma non-Hodgkin a cellule B (si veda questo termine) e rappresenta la forma più comune di leucemia nel Paesi occidentali. La malattia colpisce gli anziani (età mediana 67-72 anni), con una leggera prevalenza nei maschi (1,7:1). Il quadro clinico è molto variabile; i pazienti possono essere asintomatici o presentare sintomi aspecifici correlati ai linfociti B, come la perdita involontaria di peso, l'affaticamento grave, la febbre (in assenza di infezioni evidenti), la sudorazione notturna, la linfoadenopatia cervicale, la splenomegalia e le infezioni frequenti. Alcuni pazienti sviluppano complicanze autoimmuni, come l'anemia emolitica autoimmune o la trombocitopenia immune (si vedano questi termini). Il decorso clinico è molto variabile; la sopravvivenza va dai pochi mesi fino a diverse decadi."},"nl":{"name":"Chronische lymfatische B-celleukemie","synonyms":["B-CLL","CLL","CLL/SLL","Chronische lymfatische leukemie","Chronische lymfoïde B-celleukemie","Klein lymfocytair lymfoom"],"definition":"Chronische lymfatische B-celleukemie (B-CLL) is een type B-cel non-Hodgkinlymfoom (zie deze term), en tevens de meest gangbare vorm van leukemie in Westerse landen, dat oudere volwassenen treft (gemiddelde leeftijd van 67 en 72 jaar) met een lichte voorkeur voor mannen (1,7:1) en dat gekarakteriseerd wordt door een zeer variabel klinisch beeld met onder meer asymptomatische ziekte of niet-specifieke B-symptomen zoals onvrijwillig gewichtsverlies, ernstige vermoeidheid, koorts (zonder indicatie van infectie) en nachtzweten, alsook cervicale lymfadenopathie, splenomegalie en frequente infecties. Sommige patiënten kunnen ook te kampen krijgen met auto-immune complicaties zoals auto-immune hemolytische anemie of immune trombocytopenie (zie deze termen). Het klinisch verloop is uiterst heterogeen met een overleving gaande van enkele maanden tot meerdere decennia."},"pt":{"name":"Leucemia linfocítica crónica de células B","synonyms":["B-CLL","CLL","CLL/SLL","Imunocitoma linfoplastocítico","Leucemia linfocítica crónica","Leucemia linfóide crónica de células B","Linfoma linfocítico pequeno"]},"pl":{"name":"Przewlekła białaczka limfocytarna B-komórkowa","synonyms":["B-CLL","Chłoniak z małych limfocytów","Przewlekła białaczka limfoidalna B-komórkowa","Przewlekła białaczka limfatyczna z komórek B"]},"cs":{"name":"Chronická B-lymfocytární leukémie","synonyms":["B-CLL","Chronická B-lymfoidní leukémie","Lymfoplazmocytická leukémie","Lymfoplazmocytoidní imunocytom","Lymfom z malých lymfocytů"]},"uk":{"name":"В-клітинна хронічна лімфоцитарна лейкемія","synonyms":["В-клітинна хронічна лімфоїдна лейкемія","B-ХЛЛ","Хронічна лімфоцитарна лейкемія","ХЛЛ","CLL/SLL","Невелика лімфоцитарна лімфома"],"definition":"B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades."},"zh":{"name":"B细胞慢性淋巴细胞白血病","synonyms":["B细胞慢性淋巴细胞白血病"]},"tr":{"name":"B hücreli kronik lenfositik lösemi","synonyms":["B-CLL","Küçük lenfositik lenfoma","B hücreli kronik lenfoid lösemi"]}},"xrefs":[{"source":"OMIM","code":"109543","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"151400","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"609630","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612557","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612558","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612559","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C91.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A82.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1239211846"},{"source":"MONDO","code":"0004948","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015451","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023434","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6104","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10008958","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":"IGHV3-21","name":"immunoglobulin heavy variable 3-21","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"22464020[PMID]_23637131[PMID]_22875913[PMID]_21372840[PMID]","hgnc":"5586","ensembl":"ENSG00000211947","omim":null,"loci":["14q32.33"]},{"symbol":"P2RX7","name":"purinergic receptor P2X 7","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"12493261[PMID]","hgnc":"8537","ensembl":"ENSG00000089041","omim":"602566","loci":["12q24.31"]},{"symbol":"ATM","name":"ATM serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"10397742[PMID]","hgnc":"795","ensembl":"ENSG00000149311","omim":"607585","loci":["11q22.3"]},{"symbol":"IKZF3","name":"IKAROS family zinc finger 3","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26466571[PMID]","hgnc":"13178","ensembl":"ENSG00000161405","omim":"606221","loci":["17q12-q21.1"]},{"symbol":"POT1","name":"protection of telomeres 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Not yet assessed","source":"23502782[PMID]","hgnc":"17284","ensembl":"ENSG00000128513","omim":"606478","loci":["7q31.33"]},{"symbol":"RPS15","name":"ribosomal protein S15","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26466571[PMID]_26675346[PMID]","hgnc":"10388","ensembl":"ENSG00000115268","omim":"180535","loci":["19p13.3"]},{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"21435757[PMID]_17920683[PMID]_16737921[PMID]_16938579[PMID]_21205967[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"]},{"symbol":"ARL11","name":"ARF like GTPase 11","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"15843669[PMID]","hgnc":"24046","ensembl":"ENSG00000152213","omim":"609351","loci":["13q14.2"]},{"symbol":"CCND1","name":"cyclin D1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"1582","ensembl":"ENSG00000110092","omim":"168461","loci":["11q13.3"]},{"symbol":"IGHG1","name":"immunoglobulin heavy constant gamma 1 (G1m marker)","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"5525","ensembl":"ENSG00000211896","omim":"147100","loci":["14q32.33"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":48.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":7.05,"area":"France","status":"Validated","source":"OTHERitut National du Cancer 2013[OTHER]"}],"phenotypes":null}