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ARMC5 Genetic Variants: Implications for Multiple Meningiomas

April, 04, 2024 | Brain Cancer

KEY TAKEAWAYS

  • The study aimed to assess the radiological characteristics of meningioma in patients with BMAD, with or without ARMC5 variants.
  • The findings emphasize the importance of investigating ARMC5 genetic variants’ neurological impact on BMAD patients with meningiomas.

Meningiomas are the most common primary brain tumor, accounting for about 40% of all brain cancers. They arise from the meninges, the protective layers surrounding the brain and spinal cord. Computed tomography (CT) scans and magnetic resonance imaging (MRI) are the most important imaging tools to diagnose meningiomas.

Arthur Araújo Massoud Salame and the team conducted a study that aimed to examine the radiological characteristics of meningioma in patients with concurrent BMAD, with or without ARMC5 pathogenic variants.

The study comprised 10 patients diagnosed with BMAD, all exhibiting radiological evidence of expansive brain lesions indicative of meningioma. Each patient underwent a brain MRI, with a neuroradiologist assessing parameters such as lesion number, location, size, presence of calcification, edema, and bone involvement.

The results revealed that 8 patients presented germline variants of ARMC5, while the remaining 2 did not. A significant finding was the occurrence of multiple meningiomas in 50% of BMAD patients, contrasting with the average incidence of less than 10% described in the literature. In terms of tumor location, 22 tumors were identified in BMAD patients, including 5 convexity tumors (22.7%) and 17 skull base tumors (77.2%), in contrast to patients without BMAD.

Additionally, approximately 40.9% of the tumors exhibited calcification, 9% displayed cerebral edema, and 40.9% showed bone invasion due to hyperostosis, differing from the reported percentages in existing literature.

The study concluded that significant findings regarding the incidence of multiple meningiomas and tumor location underscore the necessity for additional research into the neurological ramifications of genetic variants of ARMC5 in individuals with BMAD.

No funding-related information was available.

Source: https://link.springer.com/article/10.1007/s11060-024-04680-9

Salame, A.A.M., Charchar, H.L.S., de Oliveira Dourado, J.P. et al. (2024) “Neuroradiological features of patients with bilateral macronodular adrenocortical disease and meningiomas associated or not with genetic variants of ARMC5– a case series.” J Neurooncol (2024). https://doi.org/10.1007/s11060-024-04680-9.

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