• DOI:10.1212/WNL.0b013e31826e9b0a
• Corpus ID: 437858

Detection of IDH1 mutation in the plasma of patients with glioma

@article{Boisselier2012DetectionOI,
  title={Detection of IDH1 mutation in the plasma of patients with glioma},
  author={Blandine Boisselier and Jaime G{\'a}llego P{\'e}rez-Larraya and Marta Rossetto and Marianne Labussi{\`e}re and Pietro Ciccarino and Yannick Marie and Jean-Yves Delattre and Marc Sanson},
  journal={Neurology},
  year={2012},
  volume={79},
  pages={1693 - 1698}
}

• B. Boisselier, J. Gállego Pérez-Larraya, +5 authors M. Sanson
• Published 16 October 2012
• Medicine, Biology
• Neurology

Objective: The IDH1R132H mutation is both a strong prognostic predictor and a diagnostic hallmark of gliomas and therefore has major clinical relevance. Here, we developed a new technique to detect the IDH1R132H mutation in the plasma of patients with glioma. Methods: Small-size DNA (150–250 base pairs) was extracted from the plasma of 31 controls and 80 patients with glioma with known IDH1R132H status and correlated with MRI data. The IDH1R132H mutation was detected by a combination of coamplification at lower denaturation temperature and digital PCR. Results: The small size DNA concentration was 1.2 ng/mL (range 0.1–6.6) in controls vs 1.2 ng/mL (range 0.1–50.3) in patients with glioma (p = not significant) and 0.9 ng/mL (0.0–3.0) in low-grade gliomas vs 1.5 ng/mL in high-grade gliomas (p < 0.01). The small size DNA concentration correlated with enhancing tumor volume (1.6 ng/mL [0.4–24.9] when <10 cm3 and 14.0 ng/mL [0.6–50.3] when ≥10 cm3). The IDH1R132H mutation was detected in 15 out of 25 plasma DNA mixtures (60%) from patients with mutated tumors and in none of the 14 patients with a nonmutated tumor. The sensitivity increased with enhancing tumor volume (3/9 in nonenhancing tumors, 6/10 for enhancing volume <10 cm3, and 6/6 for enhancing volume ≥10 cm3). Conclusion: With a specificity of 100% and a sensitivity related to the tumor volume and contrast enhancement, IDH1R132H identification has a valuable diagnostic accuracy in patients not amenable to biopsy.