{"orpha":480541,"name":"High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare aggressive B-cell non-Hodgkin lymphoma characterized by a rearrangement in MYC and BCL2 and/or BCL6 (so-called double-hit or triple-hit lymphoma). The category includes double-hit cases with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma, blastoid cases with a double-hit, and cases with a DLBCL, not otherwise specified, morphology with a double-hit. It refers only to <i>de novo</i> cases, not to lymphomas with a history of pre-existing or coexistent indolent lymphoma. Patients typically present with widespread disease, including involvement of lymph nodes, bone marrow, and central nervous system.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-480541/","orphanet_url":"https://www.orpha.net/en/disease/detail/480541","names":{"fr":{"name":"Lymphome B d'évolution agressive avec un réarrangement de MYC et/ou BCL2 et/ou BCL6","definition":"Lymphome B non hodgkinien rare d'évolution agressive caractérisé par un réarrangement des gènes MYC et BCL2 et/ou de BCL6 (lymphome dit double-hit ou triple-hit). Cette catégorie comprend les cas de double-hit présentant des caractéristiques intermédiaires entre le lymphome diffus à grandes cellules B (LDGCB) et le lymphome de Burkitt, les types blastoïdes double-hit et les LDGCB non spécifiés par ailleurs présentant une morphologie tissulaire double-hit. La maladie concerne uniquement les cas <i>de novo</i>, et non les cas de lymphomes avec antécédents de lymphome indolent préexistant ou coexistant. Les patients présentent généralement une maladie diffuse avec une atteinte des ganglions lymphatiques, de la moelle osseuse et du système nerveux central."},"de":{"name":"Hochmalignes B-Zell-Lymphom mit Rearrangement von MYC und/oder BCL2 und/oder BCL6","definition":"Ein seltenes aggressives B-Zell-Non-Hodgkin-Lymphom, das durch ein Rearrangement in MYC und BCL2 und/oder BCL6 gekennzeichnet ist (sogenanntes Double-Hit- oder Triple-Hit-Lymphom). Die Kategorie umfasst Double-Hit-Fälle mit Merkmalen, die zwischen dem diffusen großzelligen B-Zell-Lymphom (DLBCL) und dem Burkitt-Lymphom liegen, blastoide Fälle mit einem Double-Hit und Double-Hit-Fälle mit DLBCL-Morphologie, nicht anderweitig spezifiziert. Der Begriff bezieht sich nur auf <i>de novo</i>-Fälle, nicht auf Lymphome mit einer Vorgeschichte von bereits bestehenden oder koexistierenden indolenten Lymphomen. Die Patienten weisen typischerweise eine weit verbreitete Erkrankung mit Befall der Lymphknoten, des Knochenmarks und des zentralen Nervensystems auf."},"es":{"name":"Linfoma de células B de alto grado con reordenamientos de MYC y BCL2 y/o BCL6","definition":"Es un linfoma no Hodgkin de células B agresivo poco frecuente caracterizado por un reordenamiento en MYC y BCL2 y/o BCL6 (llamado linfoma de doble o triple golpe). El grupo incluye casos de doble golpe con hallazgos intermedios entre el linfoma difuso de células B grandes (LDCBG) y el linfoma de Burkitt, los casos blastoides con doble golpe y los casos de LDCBG, no especificado de otra manera, de morfología con doble golpe. Se refiere únicamente a casos <i>de novo</i>, no a linfomas con antecedentes de linfoma indolente pre- o coexistente. Los pacientes suelen presentarse con una enfermedad generalizada, incluyendo afectación de los ganglios linfáticos, la médula ósea y del sistema nervioso central."},"it":{"name":"Linfoma a cellule B ad alto grado di malignità con riarrangiamenti di MYC e/o BCL2 e/o BCL6","definition":"Si tratta di un linfoma non Hodgkin a cellule B aggressivo e raro, caratterizzato da un riarrangiamento di MYC e BCL2 e/o BCL6 (cosiddetto linfoma double-hit o triple-hit). Comprende i casi double-hit con caratteristiche intermedie tra il linfoma diffuso a grandi cellule B (DLBCL) e il linfoma di Burkitt, le forme blastoidi con double-hit e le forme con morfologia DLBCL, non altrimenti specificata, con double-hit. Comprende solo i casi <i>de novo</i>, e non i linfomi successivi o concomitanti ad un linfoma silente. In genere i pazienti presentano una malattia diffusa, con il coinvolgimento dei linfonodi, del midollo osseo e del sistema nervoso centrale."},"nl":{"name":"Hooggradig B-cellymfoom met herschikkingen van MYC en BCL2 en/of BCL6","definition":"Een zeldzaam, agressief B-cel non-Hodgkinlymfoom, gekarakteriseerd door een herschikking van <i>MYC</i> en <i>BCL2</i> en/of <i>BCL6</i> (zogenaamd dubbel-hit of triple-hit lymfoom). Deze categorie omvat dubbel-hit gevallen met intermediaire kenmerken gelegen tussen diffuus grootcellig B-cellymfoom (DLBCL) en Burkittlymfoom, blastoïde gevallen met een dubbel-hit, en gevallen met een DLBCL, niet anders gespecificeerde morfologie met een dubbel-hit. Het verwijst enkel naar <i>de novo</i> gevallen, en niet naar lymfoom met een geschiedenis van pre- of co-existent indolent lymfoom. Patiënten presenteren zich doorgaans met wijdverspreide ziekte, met onder meer betrokkenheid van lymfeklieren, beenmerg, en centraal zenuwstelsel."},"pt":{"name":"Linfoma de células B de evolução agressiva com rearranjo de MYC e/ou BCL2 e/ou BCL6"},"pl":{"name":"Chłoniak z komórek B z rearanżacją MYC i(lub) BCL2 i(lub) BCL6 o wysokim stopniu złośliwości"},"cs":{"name":"High grade B-lymfom s MYC a/nebo BCL2 a/nebo BCL6 přestavbou"},"uk":{"name":"Високодиференційована В-клітинна лімфома з перебудовою MYC та/або BCL2 та/або BCL6","definition":"A rare aggressive B-cell non-Hodgkin lymphoma characterized by a rearrangement in MYC and BCL2 and/or BCL6 (so-called double-hit or triple-hit lymphoma). The category includes double-hit cases with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma, blastoid cases with a double-hit, and cases with a DLBCL, not otherwise specified, morphology with a double-hit. It refers only to <i>de novo</i> cases, not to lymphomas with a history of pre-existing or coexistent indolent lymphoma. Patients typically present with widespread disease, including involvement of lymph nodes, bone marrow, and central nervous system."},"zh":{"name":"高级别B细胞淋巴瘤合并MYC/BCL2/BLC6重排"},"tr":{"name":"MYC ve/veya BCL2 ve/veya BCL6 yeniden düzenlemesine sahip yüksek seviyede B hücreli lenfoma"}},"xrefs":[{"source":"ICD-10","code":"C85.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018813","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4524190","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":[{"symbol":"BCL2","name":"BCL2 apoptosis regulator","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"21119107[PMID]_27888878[PMID]_27717585[PMID]","hgnc":"990","ensembl":"ENSG00000171791","omim":"151430","loci":["18q21.33"]},{"symbol":"BCL6","name":"BCL6 transcription repressor","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"21119107[PMID]_27888878[PMID]_27717585[PMID]","hgnc":"1001","ensembl":"ENSG00000113916","omim":"109565","loci":["3q27.3"]},{"symbol":"MYC","name":"MYC proto-oncogene, bHLH transcription factor","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"21119107[PMID]_27888878[PMID]_27717585[PMID]","hgnc":"7553","ensembl":"ENSG00000136997","omim":"190080","loci":["8q24.21"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}