Pancreatic Focal Alpha Cell Hyperplasia with Hyperglucagonaemia without the Glucagonoma Syndrome

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Introduction: Pancreatic alpha cell hyperplasia and hyperglucagonaemia without the glucagonoma syndrome is a rare clinical syndrome not widely recognised. Here we describe a novel mutation in the glucagon receptor gene (GCGR) in a patient with the disease.

Aim(s): To better understand the biological mechanisms underlying this disease by looking for potential GCGR gene mutations.

Materials and methods: A 36-year-old female with intermittent abdominal pain had an incidental finding of a hypoechoic lesion in the pancreas during endoscopic ultrasound. Blood glucagon levels were 66 pmol/L (range 0-50). The lesion was not seen on contrast enhanced CT, MRI or Octreoscan. An elective operation revealed a 6 mm pancreas tail lesion. Histological analysis showed no abnormality but hyperplasia of endocrine islets and an increase in glucagon staining cells. The GCGR and MEN-1 genes were sequenced to identify any mutations.

Conference: 10th Annual ENETSConcerence (2013)

Presenting Author:

Authors: Miller H, Baird D, Kidd M, Cohen P, Vlavianos P,

Keywords: glucagon receptor, mutation,