Evaluating Pancreatic and Biliary Neoplasms with Small Biopsy-Based Next Generation Sequencing (NGS): Doing More with Less
Pancreatic cancer and cholangiocarcinoma are lethal diseases mainly diagnosed at an inoperable stage. As pancreatobiliary surgical specimens are often unavailable for further molecular testing, this review aimed to highlight the diagnostic, prognostic, and therapeutic impact of next-generation seque...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-01-01
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| Series: | Cancers |
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| Online Access: | https://www.mdpi.com/2072-6694/14/2/397 |
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| author | Ilias P. Nikas Giannis Mountzios Guy I. Sydney Kalliopi J. Ioakim Jae-Kyung Won Panagiotis Papageorgis |
| author_facet | Ilias P. Nikas Giannis Mountzios Guy I. Sydney Kalliopi J. Ioakim Jae-Kyung Won Panagiotis Papageorgis |
| author_sort | Ilias P. Nikas |
| collection | DOAJ |
| description | Pancreatic cancer and cholangiocarcinoma are lethal diseases mainly diagnosed at an inoperable stage. As pancreatobiliary surgical specimens are often unavailable for further molecular testing, this review aimed to highlight the diagnostic, prognostic, and therapeutic impact of next-generation sequencing (NGS) performed on distinct small biopsies, including endoscopic ultrasound fine-needle aspirations and biopsies of pancreatic solid and cystic lesions, biliary duct brushings, and also “liquid biopsies” such as the pancreatic juice, bile, and blood. NGS could clarify indeterminate pancreatic lesions or biliary strictures, for instance by identifying TP53 or SMAD4 mutations indicating high-grade dysplasia or cancer. It could also stratify pancreatic cystic lesions, by distinguishing mucinous from non-mucinous cysts and identifying high-risk cysts that should be excised in surgically fit patients, whereas the combination of cytology, elevated cystic CEA levels and NGS could improve the overall diagnostic accuracy. When NGS is performed on the pancreatic juice, it could stratify high-risk patients under surveillance. On the plasma, it could dynamically monitor the disease course and response to therapy. Notably, the circulating tumor DNA (ctDNA) levels have been associated with staging, grading, and survival. Lastly, NGS has shown potential in identifying potentially actionable molecular alterations. In conclusion, NGS applied on small biopsies could carry significant diagnostic, prognostic, and therapeutic value. |
| first_indexed | 2024-03-10T01:45:54Z |
| format | Article |
| id | doaj.art-183b51ee56254328b2058a8e87cc0403 |
| institution | Directory Open Access Journal |
| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-10T01:45:54Z |
| publishDate | 2022-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cancers |
| spelling | doaj.art-183b51ee56254328b2058a8e87cc04032023-11-23T13:14:18ZengMDPI AGCancers2072-66942022-01-0114239710.3390/cancers14020397Evaluating Pancreatic and Biliary Neoplasms with Small Biopsy-Based Next Generation Sequencing (NGS): Doing More with LessIlias P. Nikas0Giannis Mountzios1Guy I. Sydney2Kalliopi J. Ioakim3Jae-Kyung Won4Panagiotis Papageorgis5School of Medicine, European University Cyprus, Nicosia 2404, CyprusFourth Department of Medical Oncology and Clinical Trials Unit, Henry Dunant Hospital Center, 11526 Athens, GreeceSchool of Medicine, European University Cyprus, Nicosia 2404, CyprusSchool of Medicine, European University Cyprus, Nicosia 2404, CyprusDepartment of Pathology, Seoul National University Hospital and College of Medicine, Seoul 03080, KoreaTumor Microenvironment, Metastasis and Experimental Therapeutics Laboratory, Basic and Translational Cancer Research Center, Department of Life Sciences, European University Cyprus, Nicosia 2404, CyprusPancreatic cancer and cholangiocarcinoma are lethal diseases mainly diagnosed at an inoperable stage. As pancreatobiliary surgical specimens are often unavailable for further molecular testing, this review aimed to highlight the diagnostic, prognostic, and therapeutic impact of next-generation sequencing (NGS) performed on distinct small biopsies, including endoscopic ultrasound fine-needle aspirations and biopsies of pancreatic solid and cystic lesions, biliary duct brushings, and also “liquid biopsies” such as the pancreatic juice, bile, and blood. NGS could clarify indeterminate pancreatic lesions or biliary strictures, for instance by identifying TP53 or SMAD4 mutations indicating high-grade dysplasia or cancer. It could also stratify pancreatic cystic lesions, by distinguishing mucinous from non-mucinous cysts and identifying high-risk cysts that should be excised in surgically fit patients, whereas the combination of cytology, elevated cystic CEA levels and NGS could improve the overall diagnostic accuracy. When NGS is performed on the pancreatic juice, it could stratify high-risk patients under surveillance. On the plasma, it could dynamically monitor the disease course and response to therapy. Notably, the circulating tumor DNA (ctDNA) levels have been associated with staging, grading, and survival. Lastly, NGS has shown potential in identifying potentially actionable molecular alterations. In conclusion, NGS applied on small biopsies could carry significant diagnostic, prognostic, and therapeutic value.https://www.mdpi.com/2072-6694/14/2/397pancreatic neoplasmsendoscopic-ultrasound-guided fine needle aspiration (EUS-FNA)pancreatic juicecirculating tumor DNA (ctDNA)pancreatic cystbiomarkers |
| spellingShingle | Ilias P. Nikas Giannis Mountzios Guy I. Sydney Kalliopi J. Ioakim Jae-Kyung Won Panagiotis Papageorgis Evaluating Pancreatic and Biliary Neoplasms with Small Biopsy-Based Next Generation Sequencing (NGS): Doing More with Less Cancers pancreatic neoplasms endoscopic-ultrasound-guided fine needle aspiration (EUS-FNA) pancreatic juice circulating tumor DNA (ctDNA) pancreatic cyst biomarkers |
| title | Evaluating Pancreatic and Biliary Neoplasms with Small Biopsy-Based Next Generation Sequencing (NGS): Doing More with Less |
| title_full | Evaluating Pancreatic and Biliary Neoplasms with Small Biopsy-Based Next Generation Sequencing (NGS): Doing More with Less |
| title_fullStr | Evaluating Pancreatic and Biliary Neoplasms with Small Biopsy-Based Next Generation Sequencing (NGS): Doing More with Less |
| title_full_unstemmed | Evaluating Pancreatic and Biliary Neoplasms with Small Biopsy-Based Next Generation Sequencing (NGS): Doing More with Less |
| title_short | Evaluating Pancreatic and Biliary Neoplasms with Small Biopsy-Based Next Generation Sequencing (NGS): Doing More with Less |
| title_sort | evaluating pancreatic and biliary neoplasms with small biopsy based next generation sequencing ngs doing more with less |
| topic | pancreatic neoplasms endoscopic-ultrasound-guided fine needle aspiration (EUS-FNA) pancreatic juice circulating tumor DNA (ctDNA) pancreatic cyst biomarkers |
| url | https://www.mdpi.com/2072-6694/14/2/397 |
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