Pancreatic Focal Alpha Cell Hyperplasia with Hyperglucagonaemia without the Glucagonoma Syndrome Abstract #691

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 ENETS Conference (2013)
Category: Pathology, grading, staging
Presenting Author: Helen Miller

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