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[Sporadic familial meningiomas]
V Medrano-Martínez1, J M Moltó-Jordà, R M Sánchez-Pérez
1Servicio de Neurología, Hospital General Universitario de Alicante, España. medranovic@gva.es
Introduction:
Meningiomas are primary tumours of the central nervous system. Usually they are sporadic. The occurrence in more than one member of a family is unusual. Up till now this coincidence had been related with type 2 neurofibromatosis. In this paper we comment on two siblings who did not fulfil neurofibromatosis diagnostic criteria as an example of sporadic familial meningiomas.
Clinical Cases:
Two siblings (a 79 years old female and a 77 years old male) were diagnosed of a meningioma in an interval of two years, with surprising clinical and neuroimaging similarities. In sporadic meningiomas, abnormalities in the long arm of chromosome 22 have been found. Type 2 neurofibromatosis causative gene has also been found in this chromosome. Meningiomas are quite often found in this entity, and therefore, this gene was implicated as a main factor in the genesis of an important number of meningiomas. However, several studies have not found an association between these tumours and the locus for neurofibromatosis, leading to think that there may be other genes that may influence on meningiomas development.
Insights
Familial meningiomas, rare brain tumors, can occur sporadically without neurofibromatosis. This case highlights two siblings with similar meningiomas, suggesting other genetic factors may be involved.
Area of Science:
- Neuro-oncology
- Genetics
- Central Nervous System Tumors
Background:
- Meningiomas are primary central nervous system tumors, typically sporadic.
- Familial occurrence is uncommon and often linked to neurofibromatosis type 2.
- This study examines familial meningiomas in siblings without neurofibromatosis.
Purpose of the Study:
- To report a rare case of sporadic familial meningiomas.
- To discuss potential genetic factors beyond neurofibromatosis type 2 in meningioma development.
Main Methods:
- Case report of two siblings diagnosed with meningioma.
- Review of literature regarding genetic associations with sporadic meningiomas.
- Analysis of clinical and neuroimaging similarities.
Main Results:
- Two siblings presented with similar meningiomas within a two-year interval.
- Neither sibling met diagnostic criteria for neurofibromatosis type 2.
- Abnormalities on chromosome 22 are implicated in sporadic meningiomas.
Conclusions:
- Sporadic familial meningiomas can occur independently of neurofibromatosis type 2.
- Other genetic factors on chromosome 22 may contribute to meningioma genesis.
- Further research is needed to identify non-NF2 genes involved in meningioma development.