RPTOR and Miyoshi myopathy: Moreover, copy number alterations involving components of the PI3K/Akt/mTOR pathway were found in SN-MM cell lines, including recurrent gains of AKT, RICTOR, RPTOR, NDRG1, RPS6KB1, RHEB, and loss of SGK1, supporting a relevant role for PI3K/Akt/mTOR pathway in controlling cell growth in these tumors.