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[Intraosseous metastasis of K27-mutant glioma]
M V Ryzhova1, S A Galstyan1, D V Starovoitov1
1Burdenko National Medical Research Center of Neurosurgery, Moscow, Russia.
Abstract:
Glioma metastasis outside the central nervous system is a quite rare phenomenon. The disease in a young woman manifested itself as back pain and loss of vision in the left eye. Magnetic resonance imaging (MRI) revealed a tumor of the optic nerve; positron emission tomography showed multiple secondary bone changes. At the same time, MRI detected no signs of neoplasm in the midline brain structures (the brain stem and subcortical nuclei) and spinal cord. Two biopsies (superior iliac spine trephine biopsy and optic nerve tumor biopsy) were performed. There were similar histological tumors; the optic nerve tumor was found to have K27M mutation in the H3F3A gene, whereas the metastatic tumor lacked this mutation (possibly due to the quality and quantity of DNA isolated from the tumor cells). The interesting features of this case are the simultaneous detection of primary and metastatic tumors before receiving any treatment and the absence of the K27M mutation in the H3F3A gene in the metastasis.
Insights
Extracranial glioma metastasis is rare. This case highlights a young woman with simultaneous primary optic nerve glioma and bone metastasis, notably lacking the K27M mutation in the metastatic site.
Area of Science:
- Neuro-oncology
- Pathology
- Genetics
Background:
- Glioma metastasis outside the central nervous system is exceptionally uncommon.
- This report details a rare instance of extracranial metastasis in a young female patient.
Purpose of the Study:
- To document a unique case of simultaneous primary optic nerve glioma and bone metastasis.
- To investigate the genetic profile, specifically the K27M mutation in the H3F3A gene, in both primary and metastatic lesions.
Main Methods:
- Magnetic resonance imaging (MRI) and positron emission tomography (PET) for tumor detection and staging.
- Histopathological examination and molecular analysis (K27M mutation in H3F3A gene) of biopsies from the optic nerve tumor and metastatic bone lesion.
Main Results:
- Simultaneous detection of an optic nerve glioma and multiple bone metastases prior to treatment.
- Histologically similar tumors were found in both primary and metastatic sites.
- The primary optic nerve tumor harbored the K27M mutation in the H3F3A gene, while the metastatic bone tumor did not, potentially due to DNA quality issues.
Conclusions:
- This case underscores the rarity of extracranial glioma metastasis.
- The absence of the K27M mutation in the metastasis presents an intriguing genetic discrepancy, warranting further investigation into tumor evolution and diagnostic methodologies.
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