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

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 h...

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Bibliographic Details
Published in:Brain tumor pathology 2019-10, Vol.36 (4), p.169-173
Main Authors: Sasaki, Shoh, Tomomasa, Ran, Nobusawa, Sumihito, Hirato, Junko, Uchiyama, Tomoko, Boku, Eishu, Miyasaka, Toshiteru, Hirose, Takanori, Ohbayashi, Chiho
Format: Article
Language:English
Subjects:
Astrocytoma - genetics
Astrocytoma - pathology
Biomarkers, Tumor - genetics
Brain Neoplasms - pathology
Calcification
Cancer Research
Case Report
Case reports
Central Nervous System Neoplasms - genetics
Central Nervous System Neoplasms - pathology
Child
DNA methylation
Gene expression
Glioblastoma - genetics
Glioma - genetics
Histology
Humans
Magnetic resonance imaging
Male
Medicine
Medicine & Public Health
Mutation
Neurology
Neurosurgery
Oncology
Pathogenesis
Pathology
Pediatrics
Prognosis
Proteins
Radiation therapy
Tomography
Tumorigenesis
Tumors
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Summary: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.
ISSN:1433-7398
1861-387X
DOI:10.1007/s10014-019-00349-8