| http://purl.uniprot.org/citations/30282799 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/30282799 | http://www.w3.org/2000/01/rdf-schema#comment | "The WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue notes instances of Burkitt lymphoma/leukemia (BL) with IG-MYC rearrangement displaying a B-cell precursor immunophenotype (termed herein "preBLL"). To characterize the molecular pathogenesis of preBLL, we investigated 13 preBLL cases (including 1 cell line), of which 12 were analyzable using genome, exome, and targeted sequencing, imbalance mapping, and DNA methylation profiling. In 5 patients with reads across the IG-MYC breakpoint junctions, we found evidence that the translocation derived from an aberrant VDJ recombination, as is typical for IG translocations arising in B-cell precursors. Genomic changes like biallelic IGH translocations or VDJ rearrangements combined with translocation into the VDJ region on the second allele, potentially preventing expression of a productive immunoglobulin, were detected in 6 of 13 cases. We did not detect mutations in genes frequently altered in BL, but instead found activating NRAS and/or KRAS mutations in 7 of 12 preBLLs. Gains on 1q, recurrent in BL and preB lymphoblastic leukemia/lymphoma (pB-ALL/LBL), were detected in 7 of 12 preBLLs. DNA methylation profiling showed preBLL to cluster with precursor B cells and pB-ALL/LBL, but apart from BL. We conclude that preBLL genetically and epigenetically resembles pB-ALL/LBL rather than BL. Therefore, we propose that preBLL be considered as a pB-ALL/LBL with recurrent genetic abnormalities."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2018-03-842088"xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Park J."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Schneider C."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Siebert R."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Lopez C."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Schlesner M."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Nurnberg P."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Thiele H."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Drexler H.G."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Altmuller J."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Seufert J."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Wagener R."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Stilgenbauer S."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Jaffe E.S."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Schlegelberger B."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "de Leval L."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Burkhardt B."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Oscier D."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Nagel I."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Kontny U."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Hovland R."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Kuppers R."xsd:string |
| http://purl.uniprot.org/citations/30282799 | http://purl.uniprot.org/core/author | "Attarbaschi A."xsd:string |