[Intraosseous metastasis of K27-mutant glioma].
Marina RyzhovaS A GalstyanD V StarovoitovG P SnigirevaI V ZubovaAndrey V GolanovI N ProninGalina Valerievna PavlovaM P MertsalovaA I BelovP L KalininN K SerovaPublished in: Arkhiv patologii (2021)
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.
Keyphrases
- optic nerve
- magnetic resonance imaging
- positron emission tomography
- optical coherence tomography
- computed tomography
- spinal cord
- contrast enhanced
- small cell lung cancer
- squamous cell carcinoma
- white matter
- ultrasound guided
- genome wide
- spinal cord injury
- copy number
- fine needle aspiration
- magnetic resonance
- single cell
- low grade
- body composition
- dna methylation
- neuropathic pain
- bone mineral density
- pet imaging
- cerebral ischemia
- label free
- middle aged
- replacement therapy
- high grade
- postmenopausal women