Molecular genetic changes in solid pseudopapillary neoplasms (SPN) of the pancreas
Elisa M. Rodriguez-Matta, Amanda Hemmerich, Jason S. Starr, Kabir Mody, Eric A. Severson, Gerardo Colón‐Otero
Abstract
Key Message: Solid pseudopapillary neoplasms of the pancreas are commonly associated with pathogenic point mutations in the CTNNB1 gene. Our series identified CTNNB1 mutations in 93% of the casesmost commonly in positions 32 and 37. Additional pathogenic mutations in other cancer associated genes are commonpresent in 64% of our cases. Comprehensive genomic profiling identified potentially actionable genomic alterations and mutations in DNA repair geneseach in 29% of the cases
Topics & Concepts
PancreasMedicineGenePoint mutationPancreatic cancergenomic DNAMutationCancer researchGeneticsCancerBiologyInternal medicinePancreatic and Hepatic Oncology ResearchCancer Genomics and DiagnosticsGenetic factors in colorectal cancer