Whole-genome analysis of an aggressive metastatic pancreatic solid pseudopapillary neoplasm
Abstract Pancreatic solid pseudopapillary neoplasms (SPNs) are uncommon tumors that rarely exhibit aggressive behavior. Given disease rarity, comprehensive studies to understand tumor biology, clinical course, and optimal management are limited. We describe an unusual case of a 55-year-old man with...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2025-03-01
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| Series: | npj Precision Oncology |
| Online Access: | https://doi.org/10.1038/s41698-025-00843-7 |
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| author | Phoebe T. M. Cheng James T. Topham Ayman Aldeheshi Gregory A. Taylor Erin Pleasance Melissa K. McConechy Jessica M. T. Nelson David F. Schaeffer Steven J. M. Jones Marco A. Marra Janessa Laskin Daniel J. Renouf |
| author_facet | Phoebe T. M. Cheng James T. Topham Ayman Aldeheshi Gregory A. Taylor Erin Pleasance Melissa K. McConechy Jessica M. T. Nelson David F. Schaeffer Steven J. M. Jones Marco A. Marra Janessa Laskin Daniel J. Renouf |
| author_sort | Phoebe T. M. Cheng |
| collection | DOAJ |
| description | Abstract Pancreatic solid pseudopapillary neoplasms (SPNs) are uncommon tumors that rarely exhibit aggressive behavior. Given disease rarity, comprehensive studies to understand tumor biology, clinical course, and optimal management are limited. We describe an unusual case of a 55-year-old man with metastatic pancreatic SPN, where whole-genome and transcriptome analyses of the primary tumor and a metastatic liver lesion revealed a shared homozygous non-canonical mutation in APC. The patient received upfront modified FOLFIRINOX (infusional 5-fluorouracil, irinotecan, and oxaliplatin) chemotherapy due to rapidly progressive symptoms, demonstrating an early and sustained treatment response. Therefore, we identified potential genetic determinants of tumorigenesis and progression in a pathologically and clinically aggressive SPN, which may have important prognostic and treatment implications. |
| format | Article |
| id | doaj-art-cac6a2c257e24cfa9c1e7803d7d3f167 |
| institution | DOAJ |
| issn | 2397-768X |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | npj Precision Oncology |
| spelling | doaj-art-cac6a2c257e24cfa9c1e7803d7d3f1672025-08-20T03:05:57ZengNature Portfolionpj Precision Oncology2397-768X2025-03-01911610.1038/s41698-025-00843-7Whole-genome analysis of an aggressive metastatic pancreatic solid pseudopapillary neoplasmPhoebe T. M. Cheng0James T. Topham1Ayman Aldeheshi2Gregory A. Taylor3Erin Pleasance4Melissa K. McConechy5Jessica M. T. Nelson6David F. Schaeffer7Steven J. M. Jones8Marco A. Marra9Janessa Laskin10Daniel J. Renouf11Department of Medical Oncology, BC CancerPancreas Centre BCDepartment, Pathology and Laboratory Medicine, Faculty of Medicine, University of British ColumbiaCanada’s Michael Smith Genome Sciences Centre, BC CancerCanada’s Michael Smith Genome Sciences Centre, BC CancerCanada’s Michael Smith Genome Sciences Centre, BC CancerCanada’s Michael Smith Genome Sciences Centre, BC CancerPancreas Centre BCCanada’s Michael Smith Genome Sciences Centre, BC CancerCanada’s Michael Smith Genome Sciences Centre, BC CancerDepartment of Medical Oncology, BC CancerDepartment of Medical Oncology, BC CancerAbstract Pancreatic solid pseudopapillary neoplasms (SPNs) are uncommon tumors that rarely exhibit aggressive behavior. Given disease rarity, comprehensive studies to understand tumor biology, clinical course, and optimal management are limited. We describe an unusual case of a 55-year-old man with metastatic pancreatic SPN, where whole-genome and transcriptome analyses of the primary tumor and a metastatic liver lesion revealed a shared homozygous non-canonical mutation in APC. The patient received upfront modified FOLFIRINOX (infusional 5-fluorouracil, irinotecan, and oxaliplatin) chemotherapy due to rapidly progressive symptoms, demonstrating an early and sustained treatment response. Therefore, we identified potential genetic determinants of tumorigenesis and progression in a pathologically and clinically aggressive SPN, which may have important prognostic and treatment implications.https://doi.org/10.1038/s41698-025-00843-7 |
| spellingShingle | Phoebe T. M. Cheng James T. Topham Ayman Aldeheshi Gregory A. Taylor Erin Pleasance Melissa K. McConechy Jessica M. T. Nelson David F. Schaeffer Steven J. M. Jones Marco A. Marra Janessa Laskin Daniel J. Renouf Whole-genome analysis of an aggressive metastatic pancreatic solid pseudopapillary neoplasm npj Precision Oncology |
| title | Whole-genome analysis of an aggressive metastatic pancreatic solid pseudopapillary neoplasm |
| title_full | Whole-genome analysis of an aggressive metastatic pancreatic solid pseudopapillary neoplasm |
| title_fullStr | Whole-genome analysis of an aggressive metastatic pancreatic solid pseudopapillary neoplasm |
| title_full_unstemmed | Whole-genome analysis of an aggressive metastatic pancreatic solid pseudopapillary neoplasm |
| title_short | Whole-genome analysis of an aggressive metastatic pancreatic solid pseudopapillary neoplasm |
| title_sort | whole genome analysis of an aggressive metastatic pancreatic solid pseudopapillary neoplasm |
| url | https://doi.org/10.1038/s41698-025-00843-7 |
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