PTCH1 and neoplasm: In disagreement with this reports in our case series two of 18 (11%) patients were affected by AML (patient number 8 and 14); therefore this tumor could represent not only an incidental finding but a potential sign of an hereditary disorder, that might be as useful as KCOTs as a screening criterion for the identification of PTCH1 gene-carrier individuals at risk of NBCCS.