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

被引：0
|
作者：
Narasimhaiah, Deepti [1 ]
Thomas, Bejoy [2 ]
Abraham, Mathew [3 ]
Poyuran, Rajalakshmi [1 ]
机构：
[1] Sree Chitra Tirunal Inst Med Sci & Technol, Dept Pathol, Trivandrum 695011, Kerala, India
[2] Sree Chitra Tirunal Inst Med Sci & Technol, Dept Imaging Sci & Intervent Radiol, Trivandrum, Kerala, India
[3] Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurosurg, Trivandrum, Kerala, India
来源：
JOURNAL OF NEUROSCIENCES IN RURAL PRACTICE | 2021年 / 12卷 / 03期
关键词：
glioma; H3; K27M; midline; mosaic; INTRINSIC PONTINE; DRIVER MUTATIONS;
D O I：
10.1055/s-0041-1728231
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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.
引用
收藏
页码：596 / 598
页数：3
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