Indeed, cytogenetic studies demonstrated the association between CNS rhabdoid tumors and chromosome 22q11.2 alterations, with SMARCB1 [MIM 601607] deletions and/or mutations [7], while the first case of pleomorphic xanthoastrocytoma in a 16 year-old patient with DGS/VCFS, harbouring V600E BRAF mutation has been recently reported [6]. Here, BRAF is linked to atypical teratoid rhabdoid tumor.