Solid Pseudopapillary Neoplasm of the Pancreas and Abdominal Desmoid Tumor in a Patient Carrying Two Different Germline Mutations: New Horizons from Tumor Molecular Profiling.

This case report describes the history of a 41 year-old woman with a solid pseudopapillary neoplasm (SPN) of the pancreas and a metachronous abdominal desmoid tumor (DT) that occurred two years after the SPN surgical resection. At next-generation sequencing of 174 cancer-related genes, both neoplasms harbored a somatic mutation which was different in each tumor. Moreover, two pathogenic mutations were found in both tumors, confirmed as germline by the sequencing of normal tissue. The mutations were c.631G>A, resulting in the amino-acid change p.V211I, and c.7008-2A>T, causing a splice acceptor site loss. However, as the two neoplasms showed neither loss of heterozygosity nor somatic mutation in the second allele, they cannot be considered as -dependent tumors. Nevertheless, this study highlights the important opportunities opened by extensive tumor molecular profiling. In this particular case, it permitted the detection of -germline mutations, essential for addressing the necessary -related genetic counseling, surveillance, and screening for the patient and her family.