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[Multiple meningiomas and neurofibromatosis. Report of 3 cases]
M A Oliveira1, J F Araujo, R J Balbo
1Departamento de Neuro-Psiquiatria, Faculdade de Ciências Médicas da Pontifícia Universidade Católica de Campinas (PUCCAMP), Brasil.
Abstract:
Multiple intracranial meningiomas (MIM) may be a specific pathological entity. In general these lesions are associated with neurofibromatosis. The classical clinical picture of neurofibromatosis, as described by von Recklinghausen, may not necessarily be associated with MIM. This possibility is a direct result of the variable penetrability of chromosomic aberrations connected with the chromosome 22. Molecular studies of these tumors confirmed this finding. In our series of 108 patients with intracranial meningiomas only three cases were multiple. In only one of them external stigmata of von Recklinghausen's disease were detected. In the absence of skin manifestations of neurofibromatosis in patients with MIM it is very difficult to diagnosis von Recklinghausen's disease, and the so called "true multiple meningiomas". The authors believe that there are no justificative findings to consider MIM as an independent pathological entity.
Insights
Multiple intracranial meningiomas (MIM) are rarely independent. While often linked to neurofibromatosis, MIM diagnosis is challenging without typical skin signs, questioning their distinct pathological status.
Area of Science:
- Neuro-oncology
- Genetics
- Pathology
Background:
- Multiple intracranial meningiomas (MIM) are rare tumors.
- Their association with neurofibromatosis (NF) is generally accepted.
- The classical von Recklinghausen's disease presentation is not always present in MIM cases.
Observation:
- This study reviewed 108 patients with intracranial meningiomas, identifying only three cases of MIM.
- Of these MIM cases, only one exhibited external stigmata of neurofibromatosis.
- Diagnosis of NF and "true multiple meningiomas" is difficult without characteristic skin manifestations.
Findings:
- Molecular studies support the link between MIM and chromosomal aberrations on chromosome 22.
- Variable penetrance of genetic aberrations complicates the diagnosis of NF in MIM patients.
- The findings suggest MIM may not be a distinct pathological entity.
Implications:
- Revisiting the classification of multiple meningiomas is warranted.
- Further research into the genetic underpinnings of MIM is needed.
- Clinical diagnostic criteria for neurofibromatosis in the context of MIM require refinement.