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Anaplastic pleomorphic xanthoastrocytoma associated with an H3G34 mutation: a case report with review of literature

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Abstract

Here, we report a rare case of anaplastic pleomorphic xanthoastrocytoma (PXA) associated with an H3G34 mutation. A 12-year-old male presented with loss of appetite, vomiting, headache, and a generalized seizure, and CT revealed a 9.0 cm left frontal lobe mass with some septal walls and a localized high-density area suggestive of hemorrhage or calcification, causing severe midline shift. He emergently underwent subtotal resection and the tumor was morphologically diagnosed as anaplastic PXA. DNA sequencing identified an H3F3A G34R mutation and a TP53 R273H mutation, and immunohistochemically, ATRX nuclear expression was lost. In CNS tumors, H3G34 mutations are essentially detected in glioblastoma (GBM) or central nervous system primitive neuroectodermal tumors. Those tumors most likely comprise a single biological entity (high-grade glioma with H3G34 mutation) because of no significant difference in molecular profiling and prognosis between GBM and PNET morphologies. To our knowledge, our present case is the first one of anaplastic PXA associated with an H3G34 mutation, and whether it biologically corresponds to “high-grade glioma with H3G34 mutation” needs further studies.

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Authors and Affiliations

  1. Department of Pathology, Nara Prefecture General Medical Center, Nara, Japan

    Shoh Sasaki

  2. Department of Pathology, Nara Medical University Hospital, Nara, Japan

    Shoh Sasaki, Tomoko Uchiyama & Chiho Ohbayashi

  3. Department of Human Pathology, Gunma University Graduate School of Medicine, Gunma, Japan

    Ran Tomomasa, Sumihito Nobusawa & Junko Hirato

  4. Department of Pathology, Public Tomioka General Hospital, Gunma, Japan

    Junko Hirato

  5. Department of Neurosurgery, Nara Medical University Hospital, Nara, Japan

    Eishu Boku

  6. Department of Radiology, Nara Medical University Hospital, Nara, Japan

    Toshiteru Miyasaka

  7. Department of Pathology, Hyogo Cancer Center, Hyogo, Japan

    Takanori Hirose

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  1. Shoh Sasaki
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  2. Ran Tomomasa
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  3. Sumihito Nobusawa
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  8. Takanori Hirose
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  9. Chiho Ohbayashi
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Correspondence to Shoh Sasaki.

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Sasaki, S., Tomomasa, R., Nobusawa, S. et al. Anaplastic pleomorphic xanthoastrocytoma associated with an H3G34 mutation: a case report with review of literature. Brain Tumor Pathol 36, 169–173 (2019). https://doi.org/10.1007/s10014-019-00349-8

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  • DOI: https://doi.org/10.1007/s10014-019-00349-8

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