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Mosaic Pattern of H3 K27M-Mutant Protein Expression in a Diffuse Midline Glioma-A Diagnostic Dilemma for the
Deepti Narasimhaiah1, Bejoy Thomas2, Mathew Abraham3
1Department of Pathology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.
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.
Insights
Diffuse midline glioma, H3 K27M-mutant, is a WHO grade IV brain tumor. This report details a rare case with mosaic H3 K27M expression, impacting diagnosis and treatment.
Area of Science:
- Neuro-oncology
- Molecular Pathology
- Genetics
Background:
- Diffuse midline glioma, H3 K27M-mutant, is a WHO grade IV tumor.
- Characterized by specific histone gene mutations (H3 K27M).
- Typically exhibits homogeneous mutant protein expression in tumor cells.
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