{"orpha":99861,"name":"Precursor T-cell acute lymphoblastic leukemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Precursor T-cell acute lymphoblastic leukemia/lymphoma","Precursor T-cell acute lymphocytic leukemia","Precursor T-cell acute lymphocytic leukemia/lymphoma","T-ALL"],"definition":"A rare acute lymphoblastic leukemia characterized by a neoplasm of lymphoblasts committed to the T-cell lineage, involving bone marrow and blood. A value of >25% bone marrow blasts may be used to define leukemia (as opposed to lymphoma) in cases with the presence of a mass lesion in addition to bone marrow involvement. Patients typically present with leukocytosis, and frequently with a large mediastinal or other tissue mass. Lymphadenopathy and hepatosplenomegaly are common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99861/","orphanet_url":"https://www.orpha.net/en/disease/detail/99861","names":{"fr":{"name":"Leucémie aiguë lymphoblastique à précurseurs T","synonyms":["LAL-T","Leucémie aiguë lymphocytique à précurseurs T","Leucémie/lymphome aiguë lymphoblastique à précurseurs T","Leucémie/lymphome aiguë lymphocytique à précurseurs T"],"definition":"Leucémie aiguë lymphoblastique rare caractérisée par un néoplasme des lymphoblastes engagés dans la lignée des cellules T, impliquant la moelle osseuse et le sang. Un taux de blastes de la moelle osseuse supérieur à 25 % peut être un signe pour diagnostiquer la leucémie (par opposition au lymphome) dans les cas ou en plus de l'atteinte de la moelle osseuse on retrouve une masse. Les patients présentent généralement une leucocytose, et, dans de nombreux cas, une masse médiastinale ou d'autres masses tissulaires. La lymphadénopathie et l'hépatosplénomégalie sont fréquentes."},"de":{"name":"Akute lymphoblastische T-Vorläuferzell-Leukämie","synonyms":["T-ALL","T-Vorläuferzell-Leukämie/Lymphom, akut lymphoblastisch","Vorläufer T-Zell-lymphoblastische Leukämie/lymphoblastisches Lymphom"],"definition":"Eine akute lymphoblastische Leukämie, die durch eine Neoplasie von Lymphoblasten der T-Zell-Linie gekennzeichnet ist und Knochenmark und Blut betrifft. Ein Wert von >25% Blasten im Knochenmark kann zur Definition einer Leukämie (im Gegensatz zu einem Lymphom) herangezogen werden, wenn neben der Knochenmarkbeteiligung auch eine Gewebeverdichtung vorliegt. Die Patienten weisen typischerweise eine Leukozytose und häufig eine große mediastinale oder andere Gewebeverdichtung auf. Lymphadenopathie und Hepatosplenomegalie sind häufig."},"es":{"name":"Leucemia linfoblástica aguda de precursores de células T","synonyms":["LLA-T","Leucemia linfocítica aguda de precursores de células T","Leucemia/linfoma linfocítico agudo de precursores de células T"],"definition":"Es una leucemia linfoblástica aguda poco frecuente caracterizada por una neoplasia de linfoblastos relacionados con la línea de linfocitos T, afectando a la médula ósea y la sangre. En los casos con presencia de una lesión de masa acompañada de afectación de la médula ósea, se puede usar un valor superior a 25% de blastos en médula ósea para definir la leucemia (a diferencia del linfoma). Los pacientes suelen presentarse con leucocitosis y, con frecuencia, con una gran masa mediastínica o de otros tejidos. La linfadenopatía y la hepatoesplenomegalia son frecuentes."},"it":{"name":"Leucemia linfoblastica acuta da precursori delle cellule T","synonyms":["Leucemia linfocitica acuta da precursori delle cellule T","Leucemia/linfoma linfoblastica acuta da precursori delle cellule T","Leucemia/linfoma linfocitica acuta da precursori delle cellule T","T-ALL"],"definition":"Si tratta di una leucemia linfoblastica acuta rara, caratterizzata da una neoplasia dei linfoblasti della linea dei linfociti T, che interessa il midollo osseo e il sangue. Nei pazienti, che presentano una massa, oltre all'interessamento del midollo osseo, un livello dei blasti nel midollo osseo >25% è indicativo di leucemia (e non di linfoma). Di solito i pazienti presentano leucocitosi e, spesso, una massa di grosse dimensioni localizzata nel mediastino o in altri tessuti. Sono comuni la linfoadenopatia e l'epatosplenomegalia."},"nl":{"name":"Precursor T-cel acute lymfoblastische leukemie","synonyms":["Precursor T-cel acute lymfoblastische leukemie/lymfoom","Precursor T-cel acute lymfocytische leukemie","Precursor T-cel acute lymfocytische leukemie/lymfoom","T-ALL"],"definition":"Een zeldzame acute lymfatische leukemie, gekarakteriseerd door een neoplasma van lymfoblasten toegewijd aan de T-cellijn, met betrokkenheid van beenmerg en bloed. Een waarde van meer dan 25% blastcellen in beenmerg kan gebruikt worden als definitie voor leukemie (in tegenstelling tot lymfoom) in geval van aanwezigheid van een ruimte-innemende laesie bovenop betrokkenheid van beenmerg. Patiënten presenteren zich doorgaans met leukocytose, en vaak met een grote massa in mediastinum of een ander weefsel. Lymfadenopathie en hepatosplenomegalie komen regelmatig voor."},"pt":{"name":"Leucemia, células percussoras T linfoblásticas, aguda"},"pl":{"name":"Ostra białaczka limfoblastyczna z prekursorowych komórek T","synonyms":["Ostra białaczka limfocytowa z prekursorowych komórek T","Ostra białaczka/chłoniak limfoblastyczna z prekursorowych komórek T","Ostra białaczka/chłoniak limfocytowa z prekursorowych komórek T","T-ALL"]},"cs":{"name":"Akutní lymfoblastická leukémie z prekurzorů T-buněk","synonyms":["T-ALL","Akutní lymfoblastická leukémie/lymfom s prekurzory T-buněk","Akutní lymfocytická leukémie s prekurzory T-buněk"]},"uk":{"name":"Гостра пре-Т-клітинна лімфобластна лейкемія","synonyms":["Пре Т-клітинна гостра лімфобластна лейкемія/лімфома","Пре Т-клітинна гостра лімфоцитарна лейкемія","Пре Т-клітинна гостраї лімфоцитарна лейкемя/лімфома","T-ALL"],"definition":"A rare acute lymphoblastic leukemia characterized by a neoplasm of lymphoblasts committed to the T-cell lineage, involving bone marrow and blood. A value of >25% bone marrow blasts may be used to define leukemia (as opposed to lymphoma) in cases with the presence of a mass lesion in addition to bone marrow involvement. Patients typically present with leukocytosis, and frequently with a large mediastinal or other tissue mass. Lymphadenopathy and hepatosplenomegaly are common."},"zh":{"name":"前体T细胞急性淋巴细胞白血病","synonyms":["前体T细胞急性淋巴细胞白血病/淋巴瘤"]},"tr":{"name":"Prekürsör T hücreli akut lenfoblastik lösemi","synonyms":["T-ALL","Öncül T hücreli akut lenfositik lösemi","Öncü T hücreli akut lenfositik lösemi/lenfoma","Öncül T hücreli akut lenfoblastik lösemi/Lenfoma"]}},"xrefs":[{"source":"ICD-10","code":"C91.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A71","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"803161771"},{"source":"MONDO","code":"0020512","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054218","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1961099","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":513,"name":"Acute lymphoblastic leukemia","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"CDKN2A","name":"cyclin dependent kinase inhibitor 2A","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"18838613[PMID]","hgnc":"1787","ensembl":"ENSG00000147889","omim":"600160","loci":["9p21.3"]},{"symbol":"CNOT3","name":"CCR4-NOT transcription complex subunit 3","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Not yet assessed","source":"23263491[PMID]","hgnc":"7879","ensembl":"ENSG00000088038","omim":"604910","loci":["19q13.42"]},{"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"]},{"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":"29279377[PMID]","hgnc":"76","ensembl":"ENSG00000097007","omim":"189980","loci":["9q34.12"]},{"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":null,"hgnc":"1014","ensembl":"ENSG00000186716","omim":"151410","loci":["22q11.23"]},{"symbol":"DDX3X","name":"DEAD-box helicase 3 X-linked","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23673860[PMID]","hgnc":"2745","ensembl":"ENSG00000215301","omim":"300160","loci":["Xp11.4"]},{"symbol":"MLLT10","name":"MLLT10 histone lysine methyltransferase DOT1L cofactor","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23673860[PMID]","hgnc":"16063","ensembl":"ENSG00000078403","omim":"602409","loci":["10p12.31"]},{"symbol":"MYB","name":"MYB proto-oncogene, transcription factor","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"7545","ensembl":"ENSG00000118513","omim":"189990","loci":["6q23.3"]},{"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":null,"hgnc":"7553","ensembl":"ENSG00000136997","omim":"190080","loci":["8q24.21"]},{"symbol":"NUP214","name":"nucleoporin 214","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"29279377[PMID]","hgnc":"8064","ensembl":"ENSG00000126883","omim":"114350","loci":["9q34.13"]},{"symbol":"PICALM","name":"phosphatidylinositol binding clathrin assembly protein","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"15514","ensembl":"ENSG00000073921","omim":"603025","loci":["11q14.2"]},{"symbol":"SALL2","name":"spalt like transcription factor 2","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"29279377[PMID]","hgnc":"10526","ensembl":"ENSG00000165821","omim":"602219","loci":["14q11.2"]},{"symbol":"SET","name":"SET nuclear proto-oncogene","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"29279377[PMID]","hgnc":"10760","ensembl":"ENSG00000119335","omim":"600960","loci":["9q34.11"]},{"symbol":"STIL","name":"STIL centriolar assembly protein","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"10879","ensembl":"ENSG00000123473","omim":"181590","loci":["1p33"]},{"symbol":"TAL1","name":"TAL bHLH transcription factor 1, erythroid differentiation factor","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"11556","ensembl":"ENSG00000162367","omim":"187040","loci":["1p33"]},{"symbol":"TCL1A","name":"TCL1 family AKT coactivator A","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"11648","ensembl":"ENSG00000100721","omim":"186960","loci":["14q32.13"]},{"symbol":"TLX1","name":"T cell leukemia homeobox 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22516255[PMID]_22516263[PMID]","hgnc":"5056","ensembl":"ENSG00000107807","omim":"186770","loci":["10q24.31"]},{"symbol":"TLX3","name":"T cell leukemia homeobox 3","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22516255[PMID]_22516263[PMID]","hgnc":"13532","ensembl":"ENSG00000164438","omim":"604640","loci":["5q35.1"]},{"symbol":"TRA","name":"T-cell receptor alpha locus","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"29279377[PMID]","hgnc":"12027","ensembl":null,"omim":null,"loci":["14q11.2"]},{"symbol":"TRB","name":"T-cell receptor beta locus","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"12155","ensembl":null,"omim":null,"loci":["7q34"]},{"symbol":"TRD","name":"T-cell receptor delta locus","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"12252","ensembl":null,"omim":null,"loci":["14q11.2"]},{"symbol":"ZBTB16","name":"zinc finger and BTB domain containing 16","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"29279377[PMID]","hgnc":"12930","ensembl":"ENSG00000109906","omim":"176797","loci":["11q23.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult"],"prevalence":[],"phenotypes":null}