Beyond variant detection: Mismatch repair gene alterations in plasma cell-free DNA from 1,226 glioma samples, and plasma-confirmed functional deficiency in an unbiopsied pontine glioma.

Suman Karanth¹, Ankur Bahl¹, Nitesh Rohatgi¹, Rohit Bharat², Anil Kumar Anand³, Rakesh Kumar Gupta⁴, Rana Patir⁵, Nippun Sandhir⁶

¹Department of Medical Oncology, Fortis Memorial Research Institute, Gurugram, Haryana, India.

²Department of Medical Affairs, Guardant Health India Pvt. Ltd., Hyderabad, India.

³Department of Radiation Oncology, Fortis Memorial Research Institute, Gurugram, Haryana, India.

⁴Department of Radiology, Fortis Memorial Research Institute, Gurugram, Haryana, India.

⁵Department of Neurosurgery, Fortis Memorial Research Institute, Gurugram, Haryana, India.

⁶Department of Medical Affairs, Guardant Health Pte. Ltd., Singapore, Singapore.

PubMed PMC DOI PDF

Abstract

BACKGROUND: Mismatch repair (MMR) gene alterations are uncommon in glioma but can produce hypermutation and sensitivity to checkpoint inhibition. Profiling is often unavailable in diffuse intrinsic pontine glioma (DIPG), where biopsy carries substantial risk. We assessed whether plasma cell-free DNA (cfDNA) sequencing detects these alterations in gliomas and report an unbiopsied DIPG case in which…

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