Citation, DOI, disclosures and article data
Citation:
Deng F, Baba Y, Meningiomatosis. Reference article, Radiopaedia.org (Accessed on 16 Apr 2024) https://doi.org/10.53347/rID-90634
Meningiomatosis, specifically familial meningiomatosis, is a rare tumor predisposition syndrome characterized by multiple meningiomas. This entity is defined in patients that do not meet diagnostic criteria for the more common neurofibromatosis type 2, which also features a predisposition to meningiomas.
Pathology
Genetics
Mutations in the following genes have been described in meningiomatosis 1:
Radiographic features
The appearance of each tumor is similar to that of sporadic meningiomas, which are much more common.
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1. Louvrier C, Pasmant E, Briand-Suleau A, Cohen J, Nitschké P, Nectoux J, Orhant L, Zordan C, Goizet C, Goutagny S, Lallemand D, Vidaud M, Vidaud D, Kalamarides M, Parfait B. Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis. (2018) Neuro-oncology. 20 (7): 917-929. doi:10.1093/neuonc/noy009 - Pubmed
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2. Smidt M, Kirsch I, Ratner L. Deletion of Alu Sequences in the Fifth C-Sis Intron in Individuals with Meningiomas. J Clin Invest. 1990;86(4):1151-7. doi:10.1172/JCI114820 - Pubmed
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3. Aavikko M, Li S, Saarinen S et al. Loss of SUFU Function in Familial Multiple Meningioma. Am J Hum Genet. 2012;91(3):520-6. doi:10.1016/j.ajhg.2012.07.015 - Pubmed
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