Diffuse Midline Glioma – Diffuse Intrinsic Pontine Glioma

Diffuse midline glioma, H3 K27M-mutant, formerly known as diffuse intrinsic pontine glioma (DIPG), is a malignant and infiltrative neoplasm of the pons. DIPG mainly affects the pediatric population and is associated with dismal prognosis, where less than 10% of sufferers survive beyond 2 years from diagnosis. The diagnosis was based upon the typical clinical presentation/progression and imaging features, and biopsy was discouraged at some point due to the associated surgical toxicity. The clinical interest and exponential growth in the number of molecular studies during the last decade have lead to the discovery of selective driver mutations. Consequently, biopsy regained popularity due to the importance of obtaining tissue for diagnostic and research purposes, and therapeutic trials are shifting from conventional strategies (radiation and chemotherapy) towards targeting unique molecular mechanisms. In this chapter, we present an overview of the current standards as well as the most important recent and clinically-relevant advances in the diagnosis and management of DIPG.