{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T12:08:00Z","timestamp":1778674080779,"version":"3.51.4"},"reference-count":42,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,3,26]],"date-time":"2021-03-26T00:00:00Z","timestamp":1616716800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["12182"],"award-info":[{"award-number":["12182"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fondazione Cariverona: Oncology Biobank Project \u201cAntonio Schiavi\u201d","award":["203885\/2017"],"award-info":[{"award-number":["203885\/2017"]}]},{"name":"Fondazione Italiana Malattie Pancreas (FIMP-Ministero Salute)","award":["J38D19000690001"],"award-info":[{"award-number":["J38D19000690001"]}]},{"name":"Italian Ministry of Health","award":["RF CO-2019-12369662: CUP: B39C21000370001"],"award-info":[{"award-number":["RF CO-2019-12369662: CUP: B39C21000370001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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&gt;A, resulting in the amino-acid change p.V211I, and c.7008-2A&gt;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.<\/jats:p>","DOI":"10.3390\/genes12040481","type":"journal-article","created":{"date-parts":[[2021,3,26]],"date-time":"2021-03-26T06:59:42Z","timestamp":1616741982000},"page":"481","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["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"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7471-3121","authenticated-orcid":false,"given":"Andrea","family":"Mafficini","sequence":"first","affiliation":[{"name":"Department of Diagnostics and Public Health, Section of Pathology, University and Hospital Trust of Verona, 37134 Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3160-0634","authenticated-orcid":false,"given":"Rita T.","family":"Lawlor","sequence":"additional","affiliation":[{"name":"Department of Diagnostics and Public Health, Section of Pathology, University and Hospital Trust of Verona, 37134 Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio","family":"Ghimenton","sequence":"additional","affiliation":[{"name":"ARC-Net Research Centre, University and Hospital Trust of Verona, 37134 Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1257-6421","authenticated-orcid":false,"given":"Davide","family":"Antonello","sequence":"additional","affiliation":[{"name":"Department of Surgery, The Pancreas Institute, University of Verona, 37134 Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cinzia","family":"Cant\u00f9","sequence":"additional","affiliation":[{"name":"Department of Diagnostics and Public Health, Section of Pathology, University and Hospital Trust of Verona, 37134 Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaetano","family":"Paolino","sequence":"additional","affiliation":[{"name":"ARC-Net Research Centre, University and Hospital Trust of Verona, 37134 Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessia","family":"Nottegar","sequence":"additional","affiliation":[{"name":"Department of Diagnostics and Public Health, Section of Pathology, University and Hospital Trust of Verona, 37134 Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria L.","family":"Piredda","sequence":"additional","affiliation":[{"name":"ARC-Net Research Centre, University and Hospital Trust of Verona, 37134 Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3514-8473","authenticated-orcid":false,"given":"Roberto","family":"Salvia","sequence":"additional","affiliation":[{"name":"Department of Surgery, The Pancreas Institute, University of Verona, 37134 Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Milella","sequence":"additional","affiliation":[{"name":"Department of Medicine, Section of Medical Oncology, University of Verona, 37134 Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo P.","family":"Dei Tos","sequence":"additional","affiliation":[{"name":"Department of Medicine (DIMED), Section of Pathological Anatomy, University of Padua, 35121 Padua, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6515-5482","authenticated-orcid":false,"given":"Matteo","family":"Fassan","sequence":"additional","affiliation":[{"name":"Department of Medicine (DIMED), Section of Pathological Anatomy, University of Padua, 35121 Padua, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1678-739X","authenticated-orcid":false,"given":"Aldo","family":"Scarpa","sequence":"additional","affiliation":[{"name":"Department of Diagnostics and Public Health, Section of Pathology, University and Hospital Trust of Verona, 37134 Verona, Italy"},{"name":"ARC-Net Research Centre, University and Hospital Trust of Verona, 37134 Verona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4901-4908","authenticated-orcid":false,"given":"Claudio","family":"Luchini","sequence":"additional","affiliation":[{"name":"Department 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