Directing treatments for glioblastoma based on identifying a somatic structural rearrangement upstream from TERT gene

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United States of America Patent

PATENT NO 11697845
APP PUB NO 20210002702A1
SERIAL NO

16979422

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Abstract

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The majority of glioblastomas can be classified into molecular subgroups based on mutations in the TERT promoter (TERTp) and isocitrate dehydrogenase 1 or 2 (IDH). These molecular subgroups utilize distinct genetic mechanisms of telomere maintenance, either TERTp mutation leading to telomerase activation or ATRX-mutation leading to an alternative lengthening of telomeres phenotype (ALT). However, about 20% of glioblastomas lack alterations in TERTp and IDH. These tumors, designated TERTpWT-IDHWT glioblastomas, did not have well-established genetic biomarkers or defined mechanisms of telomere maintenance. The genetic landscape of TERTpWT-IDHWT glioblastoma includes tumors that have chromosomal rearrangements upstream of TERT. These rearrangements define a novel molecular subgroup of glioblastoma, that is a telomerase-positive subgroup driven by TERT-structural rearrangements (IDHWT-TERTSV).

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Patent Owner(s)

  • DUKE UNIVERSITY

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Inventor(s)

Inventor Name Address # of filed Patents Total Citations
Diplas, Bill H Durham, US 2 0
Yan, Hai Durham, US 83 896

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