Abstract:
:The 2016 WHO classification of brain tumors represents a major step towards the integration of molecular data into pathologic diagnoses. Our institution has included massively parallel sequencing technology in the diagnostic work-up of all gliomas since January 2016. The utilized platform successfully identifies copy number variations, individual gene mutations, small insertions and deletions, and selected gene fusions. Herein, we retrospectively review the first 51 glial tumor samples run for clinical purposes using the UCM-OncoPlus platform, a 1213 gene targeted hybrid-capture next generation sequencing (NGS) panel. NGS paired with histomorphology and clinical data allowed for reliable, comprehensive, and cost-effective classification of all the analyzed gliomas (51/51) with minimal tissue required and without the need for additional testing. In addition to detecting all diagnostically relevant mutations according to the 2016 WHO system, our data suggest a large NGS-based platform may improve the accuracy of classifying gliomas beyond the 2016 WHO system, to provide truly personalized diagnostics. Furthermore, this methodology assists in classifying histologically challenging or clinically unusual cases. And, finally, the versatile nature of this testing methodology allows for near effortless expansion as new therapeutic targets and prognostic markers are discovered.
journal_name
J Neuropathol Exp Neuroljournal_title
Journal of neuropathology and experimental neurologyauthors
Parilla M,Kadri S,Patil SA,Fitzpatrick C,Ritterhouse L,Segal J,Collins J,Pytel Pdoi
10.1093/jnen/nly130subject
Has Abstractpub_date
2019-03-01 00:00:00pages
257-267issue
3eissn
0022-3069issn
1554-6578pii
5303810journal_volume
78pub_type
杂志文章abstract::Neuron loss, synaptic decline, and spongiform change are the hallmarks of sporadic Creutzfeldt-Jakob disease (sCJD), and may be related to deficiencies in mitochondria, energy metabolism, and protein synthesis. To investigate these relationships, we determined the expression levels of genes encoding subunits of the 5 ...
journal_title:Journal of neuropathology and experimental neurology
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journal_title:Journal of neuropathology and experimental neurology
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journal_title:Journal of neuropathology and experimental neurology
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journal_title:Journal of neuropathology and experimental neurology
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journal_title:Journal of neuropathology and experimental neurology
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journal_title:Journal of neuropathology and experimental neurology
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journal_title:Journal of neuropathology and experimental neurology
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journal_title:Journal of neuropathology and experimental neurology
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journal_title:Journal of neuropathology and experimental neurology
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journal_title:Journal of neuropathology and experimental neurology
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journal_title:Journal of neuropathology and experimental neurology
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journal_title:Journal of neuropathology and experimental neurology
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journal_title:Journal of neuropathology and experimental neurology
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journal_title:Journal of neuropathology and experimental neurology
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journal_title:Journal of neuropathology and experimental neurology
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journal_title:Journal of neuropathology and experimental neurology
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journal_title:Journal of neuropathology and experimental neurology
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