• Journal of neurosurgery · May 2017

    Case Reports

    Concurrence of chromosome 6 chromothripsis and glioblastoma metastasis.

    • Robert C Rennert, Reid R Hoshide, Jason W Signorelli, Deirdre Amaro, Jayson A Sack, Cameron W Brennan, and Clark C Chen.
    • Departments of 1 Neurosurgery and.
    • J. Neurosurg. 2017 May 1; 126 (5): 1472-1478.

    AbstractThe authors report an unusual case of a widely metastatic glioblastoma. DNA copy number microarray profile of the resected specimen revealed complex rearrangements found throughout chromosome 6, a phenomenon known as chromothripsis. Such chromothripsis pattern was not observed in 50 nonmetastatic glioblastoma specimens analyzed. Analysis of the 1000+ gliomas profiled by The Cancer Genome Atlas (TCGA) data set revealed one case of chromosome 6 chromothripsis resembling the case described here. This TCGA patient died within 6 months of undergoing tumor resection. Implications of these findings are reviewed in the context of the current literature.

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