As we found both HM and NHM (with various degrees of pathogenicity) in our cohort, we then sought to evaluate the activation of the PI3K pathway using immunohistochemistry, by studying the presence of phospho-AKT in the tumor cells (Fig. 5A) of the tumor sample on which the exome analyses were carried out for the determination of the presence of PIK3CA and PIK3R1 mutations. This evidence concerns the gene PIK3R1 and neoplasm.