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A case of rhabdoid meningioma originating from the optic nerve
Jing Liu1, Ziling Yan1, Fan Lin2
1Department of Pathology, Shenzhen Second People's Hospital, Shenzhen University 1st Affiliated Hospital, Shenzhen, China.
Abstract:
We report a rare case of rhabdoid meningioma (RM) originating from the optic nerve in a 57-year-old female. The tumor exhibited rhabdoid or epithelioid histology and harbored BAP1 inactivation mutations. Optic nerve meningioma typically originates from the outer meningeal cells of the optic nerve within the optic canal and is usually benign, with most cases classified as meningothelial or transitional meningiomas. This is the first reported case of RM involving the optic nerve, presenting with World Health Organization (WHO) central nervous system (CNS) grade 1 histological features but without CDKN2A/B homozygous deletions or telomerase reverse transcriptase promoter mutations, though harboring a BAP1 deletion. Despite being classified as a low-grade tumor by current standards, the rapid recurrence and progression observed underscore the importance of reporting this case to enhance awareness among pathologists and reduce misdiagnoses.
Insights
This study details a rare rhabdoid meningioma (RM) of the optic nerve, characterized by BAP1 mutations. Despite low-grade histology, its rapid progression highlights the need for increased awareness and diagnostic vigilance.
Area of Science:
- Neuropathology
- Oncology
- Ophthalmology
Background:
- Optic nerve meningiomas typically arise from meningothelial cells and are usually benign.
- Rhabdoid meningiomas (RM) are rare, aggressive tumors with distinct histological features.
- BAP1 mutations are increasingly recognized in various tumor types, including meningiomas.
Observation:
- A rare case of rhabdoid meningioma (RM) was identified originating from the optic nerve in a 57-year-old female.
- The tumor displayed rhabdoid/epithelioid histology and harbored BAP1 inactivation mutations.
- Histological grading was World Health Organization (WHO) central nervous system (CNS) grade 1, with no CDKN2A/B homozygous deletions or TERT promoter mutations.
Findings:
- This is the first reported instance of a rhabdoid meningioma involving the optic nerve.
- Despite WHO grade 1 classification, the tumor demonstrated rapid recurrence and progression.
- Genetic analysis revealed BAP1 inactivation as a key mutation.
Implications:
- This case underscores the potential for aggressive behavior in morphologically low-grade meningiomas with specific genetic alterations.
- Increased awareness among pathologists is crucial to prevent misdiagnosis and ensure appropriate management of optic nerve RM.
- Further research into the molecular mechanisms driving RM progression is warranted to improve patient outcomes.
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