Details

Autor(en) / Beteiligte

• Shankar, Ganesh M
• Francis, Joshua M
• Rinne, Mikael L
• Ramkissoon, Shakti H
• 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 J
• Sekhar Pedamallu, Chandra
• Hoang, Mai P
• Sullivan, Ryan J
• Cherniack, Andrew D
• Garraway, Levi A
• Stemmer-Rachamimov, Anat
• Reardon, David A
• Wen, Patrick Y
• Brastianos, Priscilla K
• Curry, William T
• Barker, 2nd, Fred G
• Hahn, William C
• Nahed, Brian V
• Ligon, Keith L
• Louis, David N
• Cahill, Daniel P
• Meyerson, Matthew

Titel

Rapid Intraoperative Molecular Characterization of Glioma

Ist Teil von

• JAMA oncology, 2015-08, Vol.1 (5), p.662

Ort / Verlag

United States

Erscheinungsjahr

2015

Quelle

MEDLINE

Beschreibungen/Notizen

• 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). 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. 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.