Solid Pseudopapillary Neoplasm of the Pancreas and Abdominal Desmoid Tumor in a Patient Carrying Two Different BRCA2 Germline Mutations: New Horizons from Tumor Molecular Profiling
| Autor: | Davide Antonello, Claudio Luchini, Andrea Mafficini, Roberto Salvia, Alessia Nottegar, Michele Milella, Matteo Fassan, Cinzia Cantù, Aldo Scarpa, Maria L. Piredda, Claudio Ghimenton, Angelo Paolo Dei Tos, Gaetano Paolino, Rita T. Lawlor |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
lcsh:QH426-470 desmoid Genetic counseling BRCA pancreatic tumors Case Report molecular tumor board Germline Loss of heterozygosity 03 medical and health sciences 0302 clinical medicine Germline mutation Genetics Medicine Neoplasm Allele skin and connective tissue diseases Gene Genetics (clinical) molecular profile pseudopapillary business.industry medicine.disease lcsh:Genetics 030104 developmental biology medicine.anatomical_structure 030220 oncology & carcinogenesis Cancer research business Pancreas |
| Zdroj: | Genes Genes, Vol 12, Iss 481, p 481 (2021) |
| Popis: | 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 CTNNB1 somatic mutation which was different in each tumor. Moreover, two BRCA2 pathogenic mutations were found in both tumors, confirmed as germline by the sequencing of normal tissue. The BRCA2 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 BRCA2 allele, they cannot be considered as BRCA-dependent tumors. Nevertheless, this study highlights the important opportunities opened by extensive tumor molecular profiling. In this particular case, it permitted the detection of BRCA2-germline mutations, essential for addressing the necessary BRCA-related genetic counseling, surveillance, and screening for the patient and her family. |
| Databáze: | OpenAIRE |
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