Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10908682 | Leukemia Research | 2015 | 12 Pages |
Abstract
In relapse nucleotide variations were detected in cell fate determining transcription factors (GLIS1, AKNA). Structural genomic alterations affected genes regulating B-cell development (IKZF1, PBX1, RUNX1). Eleven novel translocations involved the genes ART4, C12orf60, MACROD2, TBL1XR1, LRRN4, KIAA1467, and ELMO1/MIR1200. Typically, patients harbored only single structural variations, except for one patient who displayed massive rearrangements in the context of a germline tumor suppressor TP53 mutation and a Li-Fraumeni syndrome-like family history. Another patient harbored a germline mutation in the DNA repair factor ATM. In summary, the relapse patients of our cohort were characterized by somatic mutations affecting the RAS pathway, epigenetic and developmental programs and germline mutations in DNA repair pathways.
Keywords
RSSTP53CGHSNVEGALTRRAGRASlincRNADGVCNVCREBBPBWAAMLIkaroscomparative genomic hybridizationrecombination signal sequencesLong terminal repeatrelapsefluorescence in situ hybridizationacute myeloid leukemiaAcute lymphoblastic leukemiaFishALLIndelsDatabase of genomic variantsSingle nucleotide polymorphismSNPRecombination-Activating GeneCopy number variations
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Authors
Cai Chen, Christoph Bartenhagen, Michael Gombert, Vera Okpanyi, Vera Binder, Silja Röttgers, Jutta Bradtke, Andrea Teigler-Schlegel, Jochen Harbott, Sebastian Ginzel, Ralf Thiele, Peter Husemann, Pina F.I. Krell, Arndt Borkhardt, Martin Dugas,