In addition, only one of the 162 genes annotated in the KEGG JAK/STAT pathway was mutated in the cohort: we confirmed in patient #115 a deleterious variant in PIK3R1, encoding the phosphoinositide-3-kinase regulatory subunit 1, predicted to be a driver loss of function mutation of a known tumor suppressor gene. This evidence concerns the gene PIK3R1 and neoplasm.