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<p>We report a case with pilocytic astrocytoma (PA) morphology carrying a histone H3 K27M mutation (H3-K27M) that progressed to PA with anaplasia. A 34-year-old woman presented with headache due to obstructive hydrocephalus from a tectal lesion. She underwent subtotal tumor resection. Histology showed a biphasic architecture with piloid cells, consistent with PA. Five months later, she developed recurrence. A second, partial resection was performed, with pathology again indicating PA. Despite subsequent radiation and chemotherapy, the tumor progressed. A third resection was done 15 months after the second. This time, histology revealed PA with anaplasia. The patient died of progressive disease 25 months after initial treatment. <i>KIAA1549::BRAF</i> fusion, H3-K27M, and loss of p16 expression due to promoter methylation were detected in all specimens. In all specimens, the presence of <i>NF1</i> Y2285fs*1 was confirmed by Sanger sequencing, with an increasing proportion of the aberrant sequence at the third resection. DNA methylation profiling revealed that the second and third specimens were classified as diffuse midline glioma, H3 K27-altered. This case suggests that the H3-K27M mutation, MAPK pathway activation, and loss of p16 expression contribute to tumorigenesis, while clonal proliferation of the tumor harboring the <i>NF1</i> mutation may play a role in malignant progression.</p>

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Tectal glioma with pilocytic astrocytoma morphology carrying a histone H3 K27M mutation and malignant transformation: a literature review

  • 期刊论文

  • 发表日期：

    2026年5月13日

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  • Moe Kumai,
  • Masayuki Kanamori,
  • Yoshiteru Shimoda,
  • Kaishi Satomi,
  • Yoshinari Osada,
  • Shota Yamashita,
  • Maako Kawamura,
  • Asami Kodera,
  • Hidetaka Niizuma,
  • Yuto Yamazaki,
  • Hirofumi Watanabe,
  • Mika Watanabe,
  • Koichi Ichimura,
  • Junji Shibahara,
  • Hidenori Endo

摘要

We report a case with pilocytic astrocytoma (PA) morphology carrying a histone H3 K27M mutation (H3-K27M) that progressed to PA with anaplasia. A 34-year-old woman presented with headache due to obstructive hydrocephalus from a tectal lesion. She underwent subtotal tumor resection. Histology showed a biphasic architecture with piloid cells, consistent with PA. Five months later, she developed recurrence. A second, partial resection was performed, with pathology again indicating PA. Despite subsequent radiation and chemotherapy, the tumor progressed. A third resection was done 15 months after the second. This time, histology revealed PA with anaplasia. The patient died of progressive disease 25 months after initial treatment. KIAA1549::BRAF fusion, H3-K27M, and loss of p16 expression due to promoter methylation were detected in all specimens. In all specimens, the presence of NF1 Y2285fs*1 was confirmed by Sanger sequencing, with an increasing proportion of the aberrant sequence at the third resection. DNA methylation profiling revealed that the second and third specimens were classified as diffuse midline glioma, H3 K27-altered. This case suggests that the H3-K27M mutation, MAPK pathway activation, and loss of p16 expression contribute to tumorigenesis, while clonal proliferation of the tumor harboring the NF1 mutation may play a role in malignant progression.