Detection of H3F3A K27M or BRAF V600E in liquid biopsies of brain tumor patients as diagnostic and monitoring biomarker: impact of tumor localization and sampling method
2025

Using Liquid Biopsies to Diagnose and Monitor Brain Tumors

Sample size: 35 publication 10 minutes Evidence: moderate

Author Information

Author(s): Madlener Sibylle, Stepien Natalia, Senfter Daniel, Mayr Lisa, Laemmerer Anna, Hedrich Cora, Baumgartner Alicia, Lötsch-Gojo Daniela, Sterba Jaroslav, Pokorna Petra, Kiesel Barbara, Widhalm Georg, Eckert Franziska, Preusser Matthias, Rössler Karl, Azizi Amedeo, Peyrl Andreas, Czech Thomas, Haberler Christine, Slavc Irene, Kasprian Gregor, Dorfer Christian, Furtner Julia, Gojo Johannes

Primary Institution: Medical University of Vienna

Hypothesis

Can liquid biopsies effectively detect H3F3A K27M and BRAF V600E mutations in brain tumor patients?

Conclusion

Liquid biopsies can accurately detect specific mutations in brain tumors, aiding in diagnosis and monitoring treatment response.

Supporting Evidence

  • The study found a sensitivity of 84.61% for CSF and 73.68% for plasma in detecting H3F3A K27M.
  • 100% specificity was achieved for both CSF and plasma samples.
  • Longitudinal monitoring showed a good correlation with clinical and radiological disease evolution.
  • CSF obtained intra-operatively had a 100% detection rate.
  • Ventricular CSF showed a 93% detection rate, while lumbar puncture had a 66% detection rate.

Takeaway

Doctors can use a simple blood test to check for certain changes in brain tumors, which helps them see how well treatment is working.

Methodology

The study analyzed circulating tumor DNA from liquid biopsies of glioma patients using droplet digital PCR.

Potential Biases

Potential selection bias due to the limited number of samples from specific tumor locations.

Limitations

The study had a small sample size and results need validation in larger cohorts.

Participant Demographics

35 patients, including 34 pediatric glioma patients and 1 adult, with a gender ratio of 13 females to 22 males.

Statistical Information

P-Value

p<0.05

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1007/s00401-024-02842-7

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