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Clinical assessment of the GNAS mutation status in patients with intraductal papillary mucinous neoplasm of the pancreas

  • Takao OhtsukaEmail author
  • Takahiro Tomosugi
  • Ryuichiro Kimura
  • So Nakamura
  • Yoshihiro Miyasaka
  • Kohei Nakata
  • Yasuhisa Mori
  • Makiko Morita
  • Nobuhiro Torata
  • Koji Shindo
  • Kenoki Ohuchida
  • Masafumi Nakamura
Review Article
  • 35 Downloads

Abstract

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.

Keywords

IPMN GNAS KRAS Pancreas Ductal adenocarcinoma 

Notes

Acknowledgements

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.

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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  • Takao Ohtsuka
    • 1
    • 2
    Email author
  • Takahiro Tomosugi
    • 1
  • Ryuichiro Kimura
    • 1
  • So Nakamura
    • 1
  • Yoshihiro Miyasaka
    • 1
  • Kohei Nakata
    • 1
  • Yasuhisa Mori
    • 1
  • Makiko Morita
    • 1
  • Nobuhiro Torata
    • 1
  • Koji Shindo
    • 1
  • Kenoki Ohuchida
    • 1
  • Masafumi Nakamura
    • 1
  1. 1.Department of Surgery and Oncology, Graduate School of Medical SciencesKyushu UniversityFukuokaJapan
  2. 2.Department of Endoscopic Diagnostics and TherapeuticsKyushu University HospitalFukuokaJapan

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