Rapid Intraoperative Molecular Characterization of Glioma.

JAMA Oncol 2015 Aug;1(5):662-7

Cancer Program, Broad Institute, Cambridge, Massachusetts3Department of Medical Oncology, Dana-Farber Cancer Institute, Boston Massachusetts7Department of Pathology, Harvard Medical School, Boston, Massachusetts.

Importance: Conclusive intraoperative pathologic confirmation of diffuse infiltrative glioma guides the decision to pursue definitive neurosurgical resection. Establishing the intraoperative diagnosis by histologic analysis can be difficult in low-cellularity infiltrative gliomas. Therefore, we developed a rapid and sensitive genotyping assay to detect somatic single-nucleotide variants in the telomerase reverse transcriptase (TERT) promoter and isocitrate dehydrogenase 1 (IDH1).

Observations: This assay was applied to tissue samples from 190 patients with diffuse gliomas, including archived fixed and frozen specimens and tissue obtained intraoperatively. Results demonstrated 96% sensitivity (95% CI, 90%-99%) and 100% specificity (95% CI, 95%-100%) for World Health Organization grades II and III gliomas. In a series of live cases, glioma-defining mutations could be identified within 60 minutes, which could facilitate the diagnosis in an intraoperative timeframe.

Conclusions And Relevance: 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.

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http://dx.doi.org/10.1001/jamaoncol.2015.0917DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4872045PMC
August 2015
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