Which of the following mutation is seen in Cowden syndrome?: (A) STK 11 mutation, (B) SMAD 4 mutation, (C) PTEN mutation, (D) PTCH mutation
Answer is C. Mutation in PTEN gene: Breast tumors Endometrial tumors Skin appendage tumors Thyroid tumors Cowden syndrome: Dysplastic gangliogliocytoma of the cerebellum (Lhermitte Duclos disease), caused by mutations in PTEN resulting in PI3K/AKT signaling pathway PTEN