Genetic and epigenetic profiling of a solitary Peutz-Jeghers colon polyp

To date, only one study describes a sporadic Peutz-Jeghers polyp finding no mutations of STK11, indicating that the molecular profile of solitary Peutz-Jeghers polyps differs from Peutz-Jeghers syndrome. This study describes a detailed and comprehensive genetic profile of a solitary Peutz-Jeghers Polyp polyp. Pathological examination reveals a high tissue homogeneity with >80 % epithelial cells. Whole-genome sequencing fails to reveal any public (clonal) mutations but demonstrates a significant number of private (subclonal) mutations.