CC BY-NC-ND 4.0 · J Neurosci Rural Pract 2021; 12(03): 596-598
DOI: 10.1055/s-0041-1728231
Case Report

Mosaic Pattern of H3 K27M-Mutant Protein Expression in a Diffuse Midline Glioma—A Diagnostic Dilemma for the Pathologist

Deepti Narasimhaiah
1  Department of Pathology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
,
Bejoy Thomas
2  Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
,
Mathew Abraham
3  Department of Neurosurgery, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
,
Rajalakshmi Poyuran
1  Department of Pathology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
› Author Affiliations
Funding None.

Abstract

Diffuse midline glioma, H3 K27M-mutant, is a World Health Organization (WHO) grade IV glioma arising in pons, thalamus, and spinal cord. They show mutations resulting in replacement of lysine at position 27 by methionine (K27M) of histone genes, H3F3A, HIST1H3B, and HIST1H3C. The H3 K27M mutant protein is identified in tumor tissue by immunohistochemistry. As these mutations are clonal and homogeneous, the mutant protein is normally identified in all tumor cells. Here we report a case of diffuse midline glioma with mosaic pattern of expression of H3 K27M mutant protein and discuss the diagnostic and therapeutic implications of this unusual pattern.



Publication History

Publication Date:
10 May 2021 (online)

© 2021. Association for Helping Neurosurgical Sick People. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/.)

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