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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Bibliographic Details
Published in:Cancers 2022-01, Vol.14 (2), p.397
Main Authors: Nikas, Ilias P, Mountzios, Giannis, Sydney, Guy I, Ioakim, Kalliopi J, Won, Jae-Kyung, Papageorgis, Panagiotis
Format: Article
Language:English
Subjects:
Bile
Biopsy
Cancer therapies
Cellular biology
Chemotherapy
Cholangiocarcinoma
Cysts
Cytology
Dysplasia
Juices
Lesions
Medical prognosis
Mutation
Next-generation sequencing
p53 Protein
Pancreatic cancer
Pancreatitis
Patients
Review
Risk groups
Smad4 protein
Standardization
Stricture
Surgery
Surveillance
Tumors
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Summary: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.
ISSN:2072-6694
2072-6694
DOI:10.3390/cancers14020397