Furthermore, it has been observed that the PI3K/AKT/mTOR pathway is mutated in more than 5% of Shh-type MBs (which could be the reason for activation of Gli1 in itself, as mentioned above), and in 12% of cases of a large cohort of human medulloblastomas (n = 155) this pathway was found to be activated, as judged by phospho-AKT and phospho-S6 expression; moreover, this activation was detected mainly in adult patients and was associated to a poor outcome (41). The gene discussed is MTOR; the disease is Mobius syndrome.