{"orpha":99860,"name":"Precursor B-cell acute lymphoblastic leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["B-ALL","Precursor B-cell acute lymphoblastic leukemia/lymphoma","Precursor B-cell acute lymphocytic leukemia","Precursor B-cell acute lymphocytic leukemia/lymphoma"],"definition":"A rare acute lymphoblastic leukemia characterized by infiltration of bone marrow and peripheral blood by small to medium-sized blast cells typically positive for the B-cell markers CD19, cCD79a, and cCD22. Predilection sites for extramedullary involvement are the central nervous system, lymph nodes, spleen, liver, and testes. Patients present with evidence of bone marrow failure (i. e. thrombocytopenia, anemia, and/or neutropenia) and variable leukocyte count, as well as lymphadenopathy, hepatomegaly, splenomegaly, bone pain, and arthralgias.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99860/","orphanet_url":"https://www.orpha.net/en/disease/detail/99860","names":{"fr":{"name":"Leucémie aiguë lymphoblastique à précurseurs B","synonyms":["B-ALL","LAL-B","Leucémie aiguë lymphocytique à précurseurs B","Leucémie/lymphome aiguë lymphoblastique à précurseurs B","Leucémie/lymphome aiguë lymphocytique à précurseurs B"],"definition":"Leucémie lymphoblastique aiguë rare, caractérisée par la prolifération de blastes de taille petite à moyenne dans la moelle osseuse et le sang périphérique, dont les lymphocytes B expriment généralement les marqueurs CD19, cCD79a et cCD22. En cas d'atteinte extramédullaire, les sites de prédilection sont le système nerveux central, les ganglions lymphatiques, la rate, le foie et les testicules. Les patients présentent des signes d'insuffisance de la moelle osseuse (à savoir, thrombocytopénie, anémie et/ou neutropénie) et un nombre de leucocytes variable, ainsi qu'une lymphadénopathie, une hépatomégalie, une splénomégalie, des douleurs osseuses et des arthralgies."},"de":{"name":"Akute lymphoblastische B-Vorläuferzell-Leukämie","synonyms":["B-ALL","B-Vorläuferzell-Leukämie/Lymphom, akut lymphoblastisch","Vorläufer B-Zell-lymphoblastische Leukämie/lymphoblastisches Lymphom"],"definition":"Eine seltene akute lymphoblastische Leukämie, die durch eine Infiltration des Knochenmarks und des peripheren Blutes durch kleine bis mittelgroße Blastenzellen gekennzeichnet ist, die typischerweise positiv für die B-Zell-Marker CD19, cCD79a und cCD22 sind. Bevorzugte Orte für eine extramedulläre Beteiligung sind das zentrale Nervensystem, Lymphknoten, Milz, Leber und Hoden. Die Patienten präsentieren sich mit Anzeichen von Knochenmarkversagen (d. h. Thrombozytopenie, Anämie und/oder Neutropenie) und variabler Leukozytenzahl sowie Lymphadenopathie, Hepatomegalie, Splenomegalie, Knochenschmerzen und Arthralgien."},"es":{"name":"Leucemia linfoblástica aguda de precursores de células B","synonyms":["LLA-B","Leucemia linfocítica aguda de precursores de células B","Leucemia/linfoma linfoblástico agudo de precursores de células B","Leucemia/linfoma linfocítico agudo de precursores de células B"],"definition":"Es una leucemia linfoblástica aguda poco frecuente caracterizada por la infiltración de la médula ósea y la sangre periférica por células blásticas de tamaño pequeño a mediano, típicamente positivas para los marcadores de células B CD19, cCD79a y cCD22. La afectación extramedular muestra predilección por el sistema nervioso central, los ganglios linfáticos, el bazo, el hígado y los testículos. Los pacientes presentan evidencias de insuficiencia medular (como trombocitopenia, anemia y/o neutropenia) y un recuento variable de leucocitos, así como linfadenopatía, hepatomegalia, esplenomegalia, dolor óseo y artralgias."},"it":{"name":"Leucemia linfoblastica acuta da precursori delle cellule B","synonyms":["Leucemia/linfoma linfocitica acuta da precursori delle cellule B","B-ALL","Leucemia linfocitica acuta da precursori delle cellule B","Leucemia/linfoma linfoblastica acuta da precursori delle cellule B"],"definition":"Si tratta di una leucemia linfoblastica acuta rara, caratterizzata dall'infiltrazione del midollo osseo e del sangue periferico da parte di blasti di piccole e medie dimensioni, di solito positivi per i marcatori delle cellule B CD19, cCD79a e cCD22. In genere il coinvolgimento extramidollare comprende il sistema nervoso centrale, i linfonodi, la milza, il fegato e i testicoli. I pazienti presentano insufficienza midollare (trombocitopenia, anemia e/o neutropenia), un numero variabile di leucociti, linfoadenopatia, epatomegalia, splenomegalia, dolore osseo e artralgia."},"nl":{"name":"Precursor B-cel acute lymfoblastische leukemie","synonyms":["B-ALL","Precursor B-cel acute lymfoblastische leukemie/lymfoom","Precursor B-cel acute lymfocytische leukemie","Precursor B-cel acute lymfocytische leukemie/lymfoom"],"definition":"Een zeldzame acute lymfoblastische leukemie, gekenmerkt door infiltratie van beenmerg en perifeer bloed door kleine tot middelgrote blastcellen die doorgaans positief zijn voor de B-cel merkers CD19, cCD79a, en cCD22. Gebieden waar extramedullaire betrokkenheid het vaakst optreedt zijn centraal zenuwstelsel, lymfeklieren, milt, lever, en testes. Patiënten presenteren zich met aanwijzingen van beenmergfalen (i.e. trombocytopenie, anemie, en/of neutropenie) en variabel aantal leukocyten, alsook lymfadenopathie, hepatomegalie, splenomegalie, botpijn, en artralgie."},"pt":{"name":"Leucemia, células percussoras B linfoblásticas, aguda"},"pl":{"name":"Ostra białaczka limfoblastyczna z prekursorowych komórek B","synonyms":["B-ALL","Ostra białaczka limfocytowa z prekursorowych komórek B","Ostra białaczka/chłoniak limfoblastyczna z prekursorowych komórek B","Ostra białaczka/chłoniak limfocytowa z prekursorowych komórek B"]},"cs":{"name":"Akutní lymfoblastická leukémie z prekurzorů B-buněk","synonyms":["B-ALL","Akutní lymfoblastická leukémie/lymfom s prekurzory B-buněk","Akutní lymfocytická leukémie s prekurzory B-buněk","Akutní lymfocytická leukémie/lymfom s prekurzory B-buněk"]},"uk":{"name":"Гостра пре-В-клітинна лімфобластна лейкемія","synonyms":["B-ALL","Пре В-клітинна гостра лімфобластна лейкемія/лімфома","Пре В-клітинна гостраї лімфоцитарна лейкемія","Пре В-клітинна гостра лімфоцитарна лейкемія/лімфома"],"definition":"A rare acute lymphoblastic leukemia characterized by infiltration of bone marrow and peripheral blood by small to medium-sized blast cells typically positive for the B-cell markers CD19, cCD79a, and cCD22. Predilection sites for extramedullary involvement are the central nervous system, lymph nodes, spleen, liver, and testes. Patients present with evidence of bone marrow failure (i. e. thrombocytopenia, anemia, and/or neutropenia) and variable leukocyte count, as well as lymphadenopathy, hepatomegaly, splenomegaly, bone pain, and arthralgias."},"zh":{"name":"前体B细胞急性淋巴细胞白血病","synonyms":["前体B细胞急性淋巴细胞白血病/淋巴瘤"]},"tr":{"name":"Prekürsör B hücreli akut lenfoblastik lösemi","synonyms":["B-ALL","Öncü B hücreli akut lenfositik lösemi","Öncül B hücreli akut lenfositik lösemi/lenfoma","Öncü B hücreli akut lenfoblastik lösemi/lenfoma"]}},"xrefs":[{"source":"OMIM","code":"615545","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C91.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A70","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1099674056"},{"source":"MONDO","code":"0020511","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0349636","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10066109","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":585877,"name":"OBSOLETE: B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality","status":"inactive"}],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":513,"name":"Acute lymphoblastic leukemia","classifications":[194,202,233]}],"children":[{"orpha":585936,"name":"B-lymphoblastic leukemia/lymphoma with hyperdiploidy","type":"Etiological subtype"},{"orpha":585942,"name":"B-lymphoblastic leukemia/lymphoma with hypodiploidy","type":"Etiological subtype"},{"orpha":585929,"name":"B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)","type":"Etiological subtype"},{"orpha":641375,"name":"B-lymphoblastic leukemia/lymphoma with t(17;19)","type":"Etiological subtype"},{"orpha":585956,"name":"B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)","type":"Etiological subtype"},{"orpha":585948,"name":"B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)","type":"Etiological subtype"},{"orpha":641372,"name":"B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)","type":"Etiological subtype"},{"orpha":585909,"name":"B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)","type":"Etiological subtype"},{"orpha":585918,"name":"B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CDKN2A","name":"cyclin dependent kinase inhibitor 2A","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"18838613[PMID]","hgnc":"1787","ensembl":"ENSG00000147889","omim":"600160","loci":["9p21.3"],"via":{"orpha":585909,"name":"B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)"}},{"symbol":"IKZF1","name":"IKAROS family zinc finger 1","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"19129520[PMID]_23751147[PMID]_19770381[PMID]_18408710[PMID]","hgnc":"13176","ensembl":"ENSG00000185811","omim":"603023","loci":["7p12.2"],"via":{"orpha":585909,"name":"B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)"}},{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Assessed","source":"34218582[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"],"via":{"orpha":585909,"name":"B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)"}},{"symbol":"FLT3","name":"fms related receptor tyrosine kinase 3","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"16234090[PMID]","hgnc":"3765","ensembl":"ENSG00000122025","omim":"136351","loci":["13q12.2"],"via":{"orpha":585909,"name":"B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)"}},{"symbol":"GATA3","name":"GATA binding protein 3","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23996088[PMID]_24141364[PMID]_24203929[PMID]","hgnc":"4172","ensembl":"ENSG00000107485","omim":"131320","loci":["10p14"],"via":{"orpha":585936,"name":"B-lymphoblastic leukemia/lymphoma with hyperdiploidy"}},{"symbol":"HLA-C","name":"major histocompatibility complex, class I, C","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25163702[PMID]","hgnc":"4933","ensembl":"ENSG00000204525","omim":"142840","loci":["6p21.33"],"via":{"orpha":585909,"name":"B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)"}},{"symbol":"PIP4K2A","name":"phosphatidylinositol-5-phosphate 4-kinase type 2 alpha","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23996088[PMID]","hgnc":"8997","ensembl":"ENSG00000150867","omim":"603140","loci":["10p12.2"],"via":{"orpha":585936,"name":"B-lymphoblastic leukemia/lymphoma with hyperdiploidy"}},{"symbol":"ABL1","name":"ABL proto-oncogene 1, non-receptor tyrosine kinase","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"30561755[PMID]","hgnc":"76","ensembl":"ENSG00000097007","omim":"189980","loci":["9q34.12"],"via":{"orpha":585909,"name":"B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)"}},{"symbol":"AUTS2","name":"activator of transcription and developmental regulator AUTS2","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22578776[PMID]","hgnc":"14262","ensembl":"ENSG00000158321","omim":"607270","loci":["7q11.22"],"via":{"orpha":641372,"name":"B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)"}},{"symbol":"BCR","name":"BCR activator of RhoGEF and GTPase","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23491079[PMID]","hgnc":"1014","ensembl":"ENSG00000186716","omim":"151410","loci":["22q11.23"],"via":{"orpha":585909,"name":"B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)"}},{"symbol":"ETV6","name":"ETS variant transcription factor 6","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23491079[PMID]","hgnc":"3495","ensembl":"ENSG00000139083","omim":"600618","loci":["12p13.2"],"via":{"orpha":585929,"name":"B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)"}},{"symbol":"HLF","name":"HLF transcription factor, PAR bZIP family member","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"20519628[PMID]","hgnc":"4977","ensembl":"ENSG00000108924","omim":"142385","loci":["17q22"],"via":{"orpha":641375,"name":"B-lymphoblastic leukemia/lymphoma with t(17;19)"}},{"symbol":"IGH","name":"immunoglobulin heavy locus","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"1554798[PMID]","hgnc":"5477","ensembl":null,"omim":"146910","loci":["14q32.33"],"via":{"orpha":585948,"name":"B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)"}},{"symbol":"KMT2A","name":"lysine methyltransferase 2A","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"30487223[PMID]","hgnc":"7132","ensembl":"ENSG00000118058","omim":"159555","loci":["11q23.3"],"via":{"orpha":585918,"name":"B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)"}},{"symbol":"PAX5","name":"paired box 5","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"21962897[PMID]_22578776[PMID]_17179230[PMID]","hgnc":"8619","ensembl":"ENSG00000196092","omim":"167414","loci":["9p13.2"],"via":{"orpha":641372,"name":"B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)"}},{"symbol":"PBX1","name":"PBX homeobox 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"31575852[PMID]","hgnc":"8632","ensembl":"ENSG00000185630","omim":"176310","loci":["1q23.3"],"via":{"orpha":585956,"name":"B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)"}},{"symbol":"TCF3","name":"transcription factor 3","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"31575852[PMID]","hgnc":"11633","ensembl":"ENSG00000071564","omim":"147141","loci":["19p13.3"],"via":{"orpha":585956,"name":"B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)"}},{"symbol":"TCF3","name":"transcription factor 3","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23346431[PMID]","hgnc":"11633","ensembl":"ENSG00000071564","omim":"147141","loci":["19p13.3"],"via":{"orpha":641375,"name":"B-lymphoblastic leukemia/lymphoma with t(17;19)"}}],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[],"phenotypes":null}