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<p>This article reports the detection of pathological substrates with an atypical histopathological phenotype in the brains of patients undergoing surgery for drug-resistant structural epilepsy. Classical hematoxylin and eosin staining and immunohistochemical examination with a specific panel of antibodies were used for pathomorphological examination. In addition to pathomorphological verification, molecular genetic testing for the presence of <i>BRAF</i> gene mutations at codon 600 and identification of <i>BRAF</i>/<i>KIAA1549</i> gene fusion was performed. MRI was performed on an instrument with a magnetic field strength of 3.0 T following the standard protocol and the epilepsy scanning protocol. Pathomorphological examination identified mixed signs of grade 1 ganglioglioma and type IIb focal cortical dysplasia in the patients. This mixed combination of pathological processes in a single substrate has not previously been described in open sources and does not fit the definition of dual pathology, where two pathologies can coexist close together but have clear differentiation. MRI showed that pathological substrates were located in the frontal and temporal lobes, did not display the typical radiological criteria of tumors, and had a “transmantle” distribution from the walls of the lateral ventricles to the cortex, with local and regional smoothing of the demarcation of gray and white matter and uneven thickening of the cortical plate in the area of interest. In one case, a large calcification associated with white matter cavitation was found in the structure of the pathological substrate. In another, the substrate showed a decrease in blood fl ow in the structure of the substrate on perfusion maps. The epileptogenic substrates described here were significantly different from classical gangliogliomas with two cell pools in terms of pathomorphological, molecular genetic, and radiological criteria. The results published here may point to a completely new subgroup of gangliogliomas with atypical cellular features or a previously unknown combination of two pathological processes, or they may indicate that neuronal-glial tumors and focal cortical dysplasia have a common origin. These data require prospective verification on a larger cohort of patients and an in-depth study of the molecular genetic profile of the pathological substrates described here for reliable verification of their origin.</p>

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Ganglioglioma with an Atypical Histopathological Phenotype or a New Entity of the Epileptogenetic Neoplasm Group?

  • 期刊论文

  • 发表日期：

    2025年3月1日

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  • V. S. Khalilov,
  • A. N. Kislyakov,
  • A. A. Kuznetsova,
  • O. A. Ryleva,
  • A. A. Kholin,
  • N. N. Zavadenko

摘要

This article reports the detection of pathological substrates with an atypical histopathological phenotype in the brains of patients undergoing surgery for drug-resistant structural epilepsy. Classical hematoxylin and eosin staining and immunohistochemical examination with a specific panel of antibodies were used for pathomorphological examination. In addition to pathomorphological verification, molecular genetic testing for the presence of BRAF gene mutations at codon 600 and identification of BRAF/KIAA1549 gene fusion was performed. MRI was performed on an instrument with a magnetic field strength of 3.0 T following the standard protocol and the epilepsy scanning protocol. Pathomorphological examination identified mixed signs of grade 1 ganglioglioma and type IIb focal cortical dysplasia in the patients. This mixed combination of pathological processes in a single substrate has not previously been described in open sources and does not fit the definition of dual pathology, where two pathologies can coexist close together but have clear differentiation. MRI showed that pathological substrates were located in the frontal and temporal lobes, did not display the typical radiological criteria of tumors, and had a “transmantle” distribution from the walls of the lateral ventricles to the cortex, with local and regional smoothing of the demarcation of gray and white matter and uneven thickening of the cortical plate in the area of interest. In one case, a large calcification associated with white matter cavitation was found in the structure of the pathological substrate. In another, the substrate showed a decrease in blood fl ow in the structure of the substrate on perfusion maps. The epileptogenic substrates described here were significantly different from classical gangliogliomas with two cell pools in terms of pathomorphological, molecular genetic, and radiological criteria. The results published here may point to a completely new subgroup of gangliogliomas with atypical cellular features or a previously unknown combination of two pathological processes, or they may indicate that neuronal-glial tumors and focal cortical dysplasia have a common origin. These data require prospective verification on a larger cohort of patients and an in-depth study of the molecular genetic profile of the pathological substrates described here for reliable verification of their origin.