Clinical assessment of the GNAS mutation status in patients with intraductal papillary mucinous neoplasm of the pancreas
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Intraductal papillary mucinous neoplasm (IPMN) of the pancreas is characterized by cystic dilation of the pancreatic duct, caused by mucin hypersecretion, with slow progression via the adenoma–carcinoma sequence mechanism. Mutation of GNAS at codon 201 is found exclusively in IPMNs, occurring at a rate of 41–75%. Recent advances in molecular biological techniques have demonstrated that GNAS mutation might play a role in the transformation of IPMNs after the appearance of neoplastic cells, rather than in the tumorigenesis of IPMNs. GNAS mutation is observed frequently in the intestinal subtype of IPMNs with MUC2 expression, and less frequently in IPMNs with concomitant pancreatic ductal adenocarcinoma (PDAC). Research has focused on assessing GNAS mutation status in clinical practice using various samples. In this review, we discuss the clinical application of GNAS mutation assessment to differentiate invasive IPMNs from concomitant PDAC, examine the clonality of recurrent IPMNs in the remnant pancreas using resected specimens, and differentiate pancreatic cystic lesions using cystic fluid collected by endoscopic ultrasound-guided fine needle aspiration (EUS-FNA), duodenal fluid, and serum liquid biopsy samples.
KeywordsIPMN GNAS KRAS Pancreas Ductal adenocarcinoma
This study was supported by a Grant-in-Aid from the Japan Society for the Promotion of Sciences for Scientific Research (B) (Grant no 16H05417).
Compliance with ethical standards
Conflict of interest
We have no conflicts of interest to declare.
- 16.Yu J, Sadakari Y, Shindo K, Suenaga M, Brant A, Almario JAN, et al. Digital next-generation sequencing identifies low-abundance mutations in pancreatic juice samples collected from the duodenum of patients with pancreatic cancer and intraductal papillary mucinous neoplasms. Gut. 2017;66:1677–87.CrossRefGoogle Scholar
- 33.Ohtsuka T, Kono H, Tanabe R, Nagayoshi Y, Mori Y, Sadakari Y, et al. Follow-up study after resection of intraductal papillary mucinous neoplasm of the pancreas; special references to the multifocal lesions and development of ductal carcinoma in the remnant pancreas. Am J Surg. 2012;204:44–8.CrossRefGoogle Scholar
- 35.Tamura K, Ohtsuka T, Ideno N, Aso T, Shindo K, Aishima S, et al. Treatment strategy for main duct intraductal papillary mucinous neoplasms of the pancreas based on the assessment of the recurrences in the remnant pancreas after resection: a retrospective review. Ann Surg. 2014;259:360–8.CrossRefGoogle Scholar
- 40.Omori Y, Ono Y, Tanino M, Karasaki H, Yamaguchi H, Furukawa T, et al. Pathways of progression from intraductal papillary mucinous neoplasm to pancreatic ductal adenocarcinoma based on molecular features. Gastroenterology. https://doi.org/10.1053/j.gastro.2018.10.029 (in press).