Shankar, GaneshFrancis, Joshua M.Rinne, MikaelRamkissoon, Shakti H.Huang, FranklinVenteicher, Andrew SAkama-Garren, Elliot H.Kang, Yun JeeLelic, NinaKim, James C.Brown, Loreal E.Charbonneau, Sarah KGolby, AlexandraSekhar Pedamallu, ChandraHoang, MaiSullivan, RyanCherniack, Andrew D.Garraway, LeviStemmer-Rachamimov, AnatReardon, DavidWen, PatrickBrastianos, PriscillaCurry, WilliamBarker, FrederickHahn, WilliamNahed, BrianLigon, KeithLouis, DavidCahill, DanielMeyerson, Matthew2017-11-082015Shankar, Ganesh M., Joshua M. Francis, Mikael L. Rinne, Shakti H. Ramkissoon, Franklin W. Huang, Andrew S. Venteicher, Elliot H. Akama-Garren, et al. 2015. “Rapid Intraoperative Molecular Characterization of Glioma.” JAMA Oncology 1 (5) (August 1): 662. doi:10.1001/jamaoncol.2015.0917.2374-2437http://nrs.harvard.edu/urn-3:HUL.InstRepos:34341844IMPORTANCE: 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.en-USJournal Article2017-11-0810.1001/jamaoncol.2015.0917