Personalized First-Line Treatment of Metastatic Pancreatic Neuroendocrine Carcinoma Facilitated by Liquid Biopsy and Computational Decision Support
Background: We present the case of a 50-year-old female whose metastatic pancreatic neuroendocrine tumor (pNET) diagnosis was delayed by the COVID-19 pandemic. The patient was in critical condition at the time of diagnosis due to the extensive tumor burden and failing liver functions. The clinical d...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-10-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/11/10/1850 |
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| author | Judita Szkukalek Róbert Dóczi Anna Dirner Ákos Boldizsár Ágnes Varga Júlia Déri Dóra Lakatos Dóra Tihanyi Barbara Vodicska Richárd Schwáb Gábor Pajkos Edit Várkondi István Vályi-Nagy Dorottya Valtinyi Zsuzsanna Nagy István Peták |
| author_facet | Judita Szkukalek Róbert Dóczi Anna Dirner Ákos Boldizsár Ágnes Varga Júlia Déri Dóra Lakatos Dóra Tihanyi Barbara Vodicska Richárd Schwáb Gábor Pajkos Edit Várkondi István Vályi-Nagy Dorottya Valtinyi Zsuzsanna Nagy István Peták |
| author_sort | Judita Szkukalek |
| collection | DOAJ |
| description | Background: We present the case of a 50-year-old female whose metastatic pancreatic neuroendocrine tumor (pNET) diagnosis was delayed by the COVID-19 pandemic. The patient was in critical condition at the time of diagnosis due to the extensive tumor burden and failing liver functions. The clinical dilemma was to choose between two registered first-line molecularly-targeted agents (MTAs), sunitinib or everolimus, or to use chemotherapy to quickly reduce tumor burden. Methods: Cell-free DNA (cfDNA) from liquid biopsy was analyzed by next generation sequencing (NGS) using a comprehensive 591-gene panel. Next, a computational method, digital drug-assignment (DDA) was deployed for rapid clinical decision support. Results: NGS analysis identified 38 genetic alterations. DDA identified 6 potential drivers, 24 targets, and 79 MTAs. Everolimus was chosen for first-line therapy based on supporting molecular evidence and the highest DDA ranking among therapies registered in this tumor type. The patient’s general condition and liver functions rapidly improved, and CT control revealed partial response in the lymph nodes and stable disease elsewhere. Conclusion: Deployment of precision oncology using liquid biopsy, comprehensive molecular profiling, and DDA make personalized first-line therapy of advanced pNET feasible in clinical settings. |
| first_indexed | 2024-03-10T06:37:36Z |
| format | Article |
| id | doaj.art-7ab3b8fd1ec74cd3a1932c4cb7cb1cdb |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-10T06:37:36Z |
| publishDate | 2021-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-7ab3b8fd1ec74cd3a1932c4cb7cb1cdb2023-11-22T17:57:44ZengMDPI AGDiagnostics2075-44182021-10-011110185010.3390/diagnostics11101850Personalized First-Line Treatment of Metastatic Pancreatic Neuroendocrine Carcinoma Facilitated by Liquid Biopsy and Computational Decision SupportJudita Szkukalek0Róbert Dóczi1Anna Dirner2Ákos Boldizsár3Ágnes Varga4Júlia Déri5Dóra Lakatos6Dóra Tihanyi7Barbara Vodicska8Richárd Schwáb9Gábor Pajkos10Edit Várkondi11István Vályi-Nagy12Dorottya Valtinyi13Zsuzsanna Nagy14István Peták15Department of Clinical Oncology, St. Imre Hospital, 1115 Budapest, HungaryOncompass Medicine Hungary Ltd., 1024 Budapest, HungaryOncompass Medicine Hungary Ltd., 1024 Budapest, HungaryOncompass Medicine Hungary Ltd., 1024 Budapest, HungaryOncompass Medicine Hungary Ltd., 1024 Budapest, HungaryOncompass Medicine Hungary Ltd., 1024 Budapest, HungaryOncompass Medicine Hungary Ltd., 1024 Budapest, HungaryOncompass Medicine Hungary Ltd., 1024 Budapest, HungaryOncompass Medicine Hungary Ltd., 1024 Budapest, HungaryOncompass Medicine Hungary Ltd., 1024 Budapest, HungaryOncompass Medicine Hungary Ltd., 1024 Budapest, HungaryOncompass Medicine Hungary Ltd., 1024 Budapest, HungaryCentrum Hospital of Southern Pest, National Hematology and Infectology Institute, 1097 Budapest, HungaryDepartment of Clinical Oncology, St. Imre Hospital, 1115 Budapest, HungaryDepartment of Clinical Oncology, St. Imre Hospital, 1115 Budapest, HungaryOncompass Medicine Hungary Ltd., 1024 Budapest, HungaryBackground: We present the case of a 50-year-old female whose metastatic pancreatic neuroendocrine tumor (pNET) diagnosis was delayed by the COVID-19 pandemic. The patient was in critical condition at the time of diagnosis due to the extensive tumor burden and failing liver functions. The clinical dilemma was to choose between two registered first-line molecularly-targeted agents (MTAs), sunitinib or everolimus, or to use chemotherapy to quickly reduce tumor burden. Methods: Cell-free DNA (cfDNA) from liquid biopsy was analyzed by next generation sequencing (NGS) using a comprehensive 591-gene panel. Next, a computational method, digital drug-assignment (DDA) was deployed for rapid clinical decision support. Results: NGS analysis identified 38 genetic alterations. DDA identified 6 potential drivers, 24 targets, and 79 MTAs. Everolimus was chosen for first-line therapy based on supporting molecular evidence and the highest DDA ranking among therapies registered in this tumor type. The patient’s general condition and liver functions rapidly improved, and CT control revealed partial response in the lymph nodes and stable disease elsewhere. Conclusion: Deployment of precision oncology using liquid biopsy, comprehensive molecular profiling, and DDA make personalized first-line therapy of advanced pNET feasible in clinical settings.https://www.mdpi.com/2075-4418/11/10/1850pancreatic neuroendocrine tumormolecular diagnosticsliquid biopsycfDNAlarge panel sequencingclinical decision support system |
| spellingShingle | Judita Szkukalek Róbert Dóczi Anna Dirner Ákos Boldizsár Ágnes Varga Júlia Déri Dóra Lakatos Dóra Tihanyi Barbara Vodicska Richárd Schwáb Gábor Pajkos Edit Várkondi István Vályi-Nagy Dorottya Valtinyi Zsuzsanna Nagy István Peták Personalized First-Line Treatment of Metastatic Pancreatic Neuroendocrine Carcinoma Facilitated by Liquid Biopsy and Computational Decision Support Diagnostics pancreatic neuroendocrine tumor molecular diagnostics liquid biopsy cfDNA large panel sequencing clinical decision support system |
| title | Personalized First-Line Treatment of Metastatic Pancreatic Neuroendocrine Carcinoma Facilitated by Liquid Biopsy and Computational Decision Support |
| title_full | Personalized First-Line Treatment of Metastatic Pancreatic Neuroendocrine Carcinoma Facilitated by Liquid Biopsy and Computational Decision Support |
| title_fullStr | Personalized First-Line Treatment of Metastatic Pancreatic Neuroendocrine Carcinoma Facilitated by Liquid Biopsy and Computational Decision Support |
| title_full_unstemmed | Personalized First-Line Treatment of Metastatic Pancreatic Neuroendocrine Carcinoma Facilitated by Liquid Biopsy and Computational Decision Support |
| title_short | Personalized First-Line Treatment of Metastatic Pancreatic Neuroendocrine Carcinoma Facilitated by Liquid Biopsy and Computational Decision Support |
| title_sort | personalized first line treatment of metastatic pancreatic neuroendocrine carcinoma facilitated by liquid biopsy and computational decision support |
| topic | pancreatic neuroendocrine tumor molecular diagnostics liquid biopsy cfDNA large panel sequencing clinical decision support system |
| url | https://www.mdpi.com/2075-4418/11/10/1850 |
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