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DOI 10.1038/s41467-019-08578-3

Медицинская библиотека · Nature communications · 2019

Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma.

López Cristina, Kleinheinz Kortine, Aukema Sietse M, Rohde Marius, Bernhart Stephan H, Hübschmann Daniel, Wagener Rabea, Toprak Umut H, Raimondi Francesco, Kreuz Markus, Waszak Sebastian M, Huang Zhiqin, Sieverling Lina, Paramasivam Nagarajan, Seufert Julian, Sungalee Stephanie, Russell Robert B, Bausinger Julia, Kretzmer Helene, Ammerpohl Ole, Bergmann Anke K, Binder Hans, Borkhardt Arndt, Brors Benedikt, Claviez Alexander, Doose Gero, Feuerbach Lars, Haake Andrea, Hansmann Martin-Leo, Hoell Jessica, Hummel Michael, Korbel Jan O, Lawerenz Chris, Lenze Dido, Radlwimmer Bernhard, Richter Julia, Rosenstiel Philip, Rosenwald Andreas, Schilhabel Markus B, Stein Harald, Stilgenbauer Stephan, Stadler Peter F, Szczepanowski Monika, Weniger Marc A, Zapatka Marc, Eils Roland, Lichter Peter, Loeffler Markus, Möller Peter, Trümper Lorenz, Klapper Wolfram, ICGC MMML-Seq Consortium, Hoffmann Steve, Küppers Ralf, Burkhardt Birgit, Schlesner Matthias, Siebert Reiner

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Аннотация

Burkitt lymphoma (BL) is the most common B-cell lymphoma in children. Within the International Cancer Genome Consortium (ICGC), we performed whole genome and transcriptome sequencing of 39 sporadic BL. Here, we unravel interaction of structural, mutational, and transcriptional changes, which contribute to MYC oncogene dysregulation together with the pathognomonic IG-MYC translocation. Moreover, by mapping IGH translocation breakpoints, we provide evidence that the precursor of at least a subset of BL is a B-cell poised to express IGHA. We describe the landscape of mutations, structural variants, and mutational processes, and identified a series of driver genes in the pathogenesis of BL, which can be targeted by various mechanisms, including IG-non MYC translocations, germline and somatic mutations, fusion transcripts, and alternative splicing.

Для цитирования: López Cristina, Kleinheinz Kortine, Aukema Sietse M, Rohde Marius, Bernhart Stephan H, Hübschmann Daniel, Wagener Rabea, Toprak Umut H, Raimondi Francesco, Kreuz Markus, Waszak Sebastian M, Huang Zhiqin, Sieverling Lina, Paramasivam Nagarajan, Seufert Julian, Sungalee Stephanie, Russell Robert B, Bausinger Julia, Kretzmer Helene, Ammerpohl Ole, Bergmann Anke K, Binder Hans, Borkhardt Arndt, Brors Benedikt, Claviez Alexander, Doose Gero, Feuerbach Lars, Haake Andrea, Hansmann Martin-Leo, Hoell Jessica, Hummel Michael, Korbel Jan O, Lawerenz Chris, Lenze Dido, Radlwimmer Bernhard, Richter Julia, Rosenstiel Philip, Rosenwald Andreas, Schilhabel Markus B, Stein Harald, Stilgenbauer Stephan, Stadler Peter F, Szczepanowski Monika, Weniger Marc A, Zapatka Marc, Eils Roland, Lichter Peter, Loeffler Markus, Möller Peter, Trümper Lorenz, Klapper Wolfram, ICGC MMML-Seq Consortium, Hoffmann Steve, Küppers Ralf, Burkhardt Birgit, Schlesner Matthias, Siebert Reiner. Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma.. Nature communications. 2019. DOI: 10.1038/s41467-019-08578-3.

Предметные рубрики MeSH

AdolescentAlternative SplicingAmino Acid SequenceBasic Helix-Loop-Helix ProteinsBurkitt LymphomaChildChild, PreschoolChromosome BreakpointsCohort StudiesDNA MethylationDNA Mutational AnalysisFemaleGene Expression ProfilingGene Expression Regulation, NeoplasticGenome, HumanHumansINDEL MutationMaleOncogene Proteins, FusionOpen Reading FramesPolymorphism, Single NucleotideProto-Oncogene Proteins c-mycTranscriptomeTranslocation, GeneticWhole Genome Sequencing
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