Case Report
Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Surg. Apr 27, 2015; 7(4): 60-66
Published online Apr 27, 2015. doi: 10.4240/wjgs.v7.i4.60
Glucagon receptor gene mutations with hyperglucagonemia but without the glucagonoma syndrome
Helen C Miller, Mark Kidd, Irvin M Modlin, Patrizia Cohen, Roberto Dina, Panagiotis Drymousis, Panagiotis Vlavianos, Günter Klöppel, Andrea Frilling
Helen C Miller, Panagiotis Drymousis, Andrea Frilling, Department of Surgery and Cancer, Imperial College London, London W12 0HS, United Kingdom
Mark Kidd, Department of Surgery, Yale University, New Haven, CT 06510, United States
Irvin M Modlin, Emeritus Yale University, School of Medicine, New Haven, CT 06510, United States
Patrizia Cohen, Roberto Dina, Department of Histopathology, Imperial College London, London W12 0HS, United Kingdom
Panagiotis Vlavianos, Department of Gastroenterology, Imperial College London, London W12 0HS, United Kingdom
Günter Klöppel, Department of Pathology, Technical University of Munich, 81675 Munich, Germany
Author contributions: Miller HC wrote the paper and analysed genetic data; Kidd M and Modlin IM performed genetic studies; Drymousis P, Vlavianos P and Frilling A contributed to the clinical work up; Cohen P and Dina R conducted the histopathology, Klöppel G reviewed the histology; Frilling A designed the research, analysed data and reviewed and edited the manuscript.
Ethics approval: This study is part of our project R12025: Genetic signature, metabolic phenotyping and integrative biology of neuroendocrine tumors. Ethics approval REC number: 07/MRE09/54.
Informed consent: All study participants, or their legal guardian, provided informed written consent prior to study enrolment.
Conflict-of-interest: None of the authors have any relevant affiliations or financial involvements to disclose.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Andrea Frilling, Professor, Department of Surgery and Cancer, Imperial College London, Hammersmith Campus, Du Cane Road, London W12 0HS, United Kingdom. a.frilling@imperial.ac.uk
Telephone: +44-20-33133210 Fax: +44-20-33133963
Received: July 17, 2014
Peer-review started: July 18, 2014
First decision: December 17, 2014
Revised: January 21, 2015
Accepted: February 10, 2015
Article in press: February 12, 2015
Published online: April 27, 2015
Core Tip

Core tip: We identify novel mutations in the glucagon receptor gene in a patient with hyperglucagonemia but no glucagonoma syndrome. Physicians dealing with pancreatic disorders should be aware of this unusual condition.