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Thoracic low grade glial neoplasm with concurrent H3 K27M and PTPN11 mutations
Michael G Argenziano1,2, Julia L Furnari1, Michael L Miller3
1Department of Neurological Surgery, Columbia University Irving Medical Center, New York, USA.
Acta Neuropathologica Communications
|April 28, 2022
Summary
This case study details a rare spinal low-grade glioma with H3 K27M and PTPN11 mutations. The combined mutations suggest a potentially altered prognosis in these rare neuroepithelial tumors.
Area of Science:
- Neuro-oncology
- Molecular Pathology
- Spinal Cord Neoplasms
Background:
- Low-grade gliomas (LGGs) are primary tumors of the central nervous system.
- H3 K27M mutations are known prognostic markers in midline gliomas.
- The role of combined mutations in spinal LGGs requires further elucidation.
Observation:
- A 41-year-old male presented with thoracic back pain and an intramedullary spinal cord tumor.
- Histopathology revealed a low-grade glial neoplasm with H3 K27M and PTPN11 mutations.
- Tumor recurrence over three years showed similar histology and mutations.
Findings:
- This is the first report of a spinal low-grade glioma with co-occurring H3 K27M and PTPN11 mutations.
- PTPN11 is a component of the MAPK signaling pathway.
- The presence of PTPN11 mutation may influence the tumor's clinical course.
Implications:
- This case expands understanding of the molecular landscape of spinal gliomas.
- Activating mutations in MAPK pathway components may have prognostic significance in H3 K27M-mutant gliomas.
- Integrated diagnosis of rare neuroepithelial tumors necessitates clinico-radio-pathologic correlation with genetic data.
