Article
Somatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis.
American journal of medical genetics. Part A - 1 Oct 2016
Keppler-Noreuil Kim M, Baker Eva H, Sapp Julie C, Lindhurst Marjorie J, Biesecker Leslie G
Abstract excerpt
Somatic genetic mutations in meningiomas are associated with histologic subtypes, anatomical location, and grade. Concomitant hyperostosis occurs with some meningiomas and the pathogenesis is not well understood. Cranial hyperostosis and meningiomas are common in patients with Proteus syndrome, which is caused by a somatic activating mutation in AKT1 c.49G>A. This same mutation has also been found in 6-9% of...
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