학술논문
Rapid Intraoperative Molecular Characterization of Glioma
Document Type
Journal Article
Author
Shankar, Ganesh Mani; Francis, Joshua M.; Rinne, Mikael Lee; Ramkissoon, Shakti; Huang, Franklin W; Venteicher, Andrew S; Akama-Garren, Elliot H.; Kang, Yun Jee; Lelic, Nina; Kim, James C.; Brown, Loreal E.; Charbonneau, Sarah K; Golby, Alexandra Jacqueline; Sekhar Pedamallu, Chandra; Hoang, Mai P; Sullivan, Ryan Joseph; Cherniack, Andrew D.; Garraway, Levi Alexander; Stemmer-Rachamimov, Anat; Reardon, David Allen; Wen, Patrick Yung Chih; Brastianos, Priscilla Kalliope; Curry, William Thomas; Barker, Frederick George; Hahn, William Chun; Nahed, Brian Vala; Ligon, Keith Lloyd; Louis, David N.; Cahill, Daniel P.; Meyerson, Matthew Langer
Source
Shankar, 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.
Subject
Language
English
ISSN
2374-2437
Abstract
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.