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Assay Permits Rapid Molecular Characterization of Glioma

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Key Points

  • The assay had 96% sensitivity and 100% specificity for World Health Organization grade II/III oligodendrogliomas, diffuse astrocytomas, oligoastrocytomas, and IDH1-mutant glioblastomas.
  • Use of the assay in live cases showed that mutations could be identified within 60 minutes. 

As reported in JAMA Oncology, Shankar et al developed a rapid genotyping assay to detect single nucleotide variants in telomerase reverse transcriptase (TERT) promoter and isocitrate dehydrogenase 1 (IDH1) genes that may assist in intraoperative decisions to perform definitive neurosurgical resection in patients with diffuse infiltrative glioma.

High Sensitivity, Specificity

In the study, the assay was used to assess tissue samples from patients with diffuse gliomas, including archived fixed and frozen specimens and intraoperatively obtained tissue.

Specificity and sensitivity of diagnosis were high for oligodendrogliomas, diffuse astrocytomas, oligoastrocytomas, and IDH1-mutant glioblastomas, with the relationship to IDH1 mutation in a series of 174 cases yielding 96% sensitivity (95% confidence interval [CI] = 90%–99%) and 100% specificity (95% CI = 95%–100%) for World Health Organization grades II and III gliomas. Sensitivity was lower for the diagnosis of glioblastomas with isolated TERT promoter mutations. Use of the assay in a series of live cases showed that glioma-defining mutations could be identified within 60 minutes, suggesting the ability to facilitate diagnosis in the intraoperative timeframe.

The investigators concluded,“The genotyping method described herein can establish the diagnosis of low-cellularity tumors like glioma, and could be adapted to the point-of-care diagnosis of other lesions that are similarly defined by highly recurrent somatic mutations.”

Matthew Meyerson, MD, PhD, of Harvard Medical School, is the corresponding author for the JAMA Oncology article.

The study was supported by the National Institutes of Health and others. 

The content in this post has not been reviewed by the American Society of Clinical Oncology, Inc. (ASCO®) and does not necessarily reflect the ideas and opinions of ASCO®.


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