Diffuse Midline Glioma
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Overview
- Diffuse midline gliomas are high grade, aggressive glial-based tumors of the brainstem and additional midline regions.
- Additional regions include the thalamus, extrathalamic diencephalic regions (hypothalamus, 3rd ventricle, pineal region), and cerebellum.
H3 K27-M Mutation
- H3 K27-M Mutation is the defining molecular marker.
- H3 K27-M Mutation stands for H3 histone mutations that result in the replacement of lysine (K) 27 with methionine (M). There are 5 types of histones (H1, H2A, H2B, H3, and H4): diffuse midline gliomas contain a mutation of lysine 27 with methionine on H3.
Radiographic characteristics
- Expansion of the infiltrated region.
- T1-weighted MRI: Hypointense
- T1-weighted MRI with contrast: Rarely enhance
References
- Adesina, Adekunle M., Tarik Tihan, Christine E. Fuller, and Tina Young Poussaint. Atlas of Pediatric Brain Tumors. Springer, 2016.
- Gray, Frangoise, Charles Duyckaerts, and Umberto De Girolami. Escourolle and Poirier’s Manual of Basic Neuropathology. OUP USA, 2013.
- Huang, Tina Y., Andrea Piunti, Rishi R. Lulla, Jin Qi, Craig M. Horbinski, Tadanori Tomita, C. David James, Ali Shilatifard, and Amanda M. Saratsis. “Detection of Histone H3 Mutations in Cerebrospinal Fluid-Derived Tumor DNA from Children with Diffuse Midline Glioma.” Acta Neuropathologica Communications 5 (April 17, 2017): 28. https://doi.org/10.1186/s40478-017-0436-6.
- Perry, Arie. “WHO’s Arrived in 2016! An Updated Weather Forecast for Integrated Brain Tumor Diagnosis.” Brain Tumor Pathology 33, no. 3 (July 1, 2016): 157–60. https://doi.org/10.1007/s10014-016-0266-4.
- Reni, Michele, Elena Mazza, Silvia Zanon, Gemma Gatta, and Charles J. Vecht. “Central Nervous System Gliomas.” Critical Reviews in Oncology/Hematology 113 (May 2017): 213–34. https://doi.org/10.1016/j.critrevonc.2017.03.021.
- Solomon, David A., Matthew D. Wood, Tarik Tihan, Andrew W. Bollen, Nalin Gupta, Joanna J. J. Phillips, and Arie Perry. “Diffuse Midline Gliomas with Histone H3-K27M Mutation: A Series of 47 Cases Assessing the Spectrum of Morphologic Variation and Associated Genetic Alterations.” Brain Pathology 26, no. 5 (n.d.): 569–80. https://doi.org/10.1111/bpa.12336.
- Somasundaram, Kumaravel. Advances in Biology and Treatment of Glioblastoma. Springer, 2017.