Abstract
Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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DNA Helicases / genetics
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Gene Amplification
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Gene Deletion
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Gene Expression Regulation, Neoplastic*
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Gene Rearrangement*
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Genome, Human
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High-Throughput Nucleotide Sequencing / methods
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Humans
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N-Myc Proto-Oncogene Protein
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Neuroblastoma / genetics*
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Neuroblastoma / pathology*
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Nuclear Proteins / genetics
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Oncogene Proteins / genetics
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Telomerase / genetics*
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Telomere / genetics*
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X-linked Nuclear Protein
Substances
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MYCN protein, human
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N-Myc Proto-Oncogene Protein
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Nuclear Proteins
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Oncogene Proteins
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TERT protein, human
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Telomerase
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DNA Helicases
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ATRX protein, human
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X-linked Nuclear Protein