Case: We are describing a case of 57-year-old gentleman who initially presented to gastroenterology clinic with iron deficiency anaemia (Hb 11, Ferritin 5) and 2 stone weight loss. An OGD was performed which demonstrated a polypoidal tumor in the distal body of stomach. Histology proved it to be carcinoid tumor. Staging CT thorax/abdomen showed marked gastric rugal thickening involving the fundus and body of the stomach with no extra mural spread, nodal disease or distant metastases. He underwent total gastrectomy and modified D2 lymphadenectomy for a Pt1 N1 well differentiated neuroendocrine carcinoma. Further investigations showed hypercalcemia, (corrected calcium, 3.0 mmol/l (2.102.58), with raised parathyroid hormone, 29.3 pmol/l (1.14.2). Fasting gut profile was normal axcept for raised gastrin level, >300 pmol/l (<41). MRI pituitary was normal. MIBI scan confirmed two parathyroid adenomas for which he underwent parathyroidectomy (Histopathology confirmed parathyroid hyperplasia). His family history revealed that his grand mother and 2 uncles died of gastric cancer, his 3 children and nephew have had parathyroidentomies in the past for hypercalcaemia and his younger brother is being treated for neuroendocrine gastric cancer with liver metastasis and hyperparathyroidism. His genetic screening showed a novel heterozygous missense mutation H7174P on exon 3 MEN 1 gene. Currently, his family members are being screened.
Conclusion: New gene mutations are being identified in patients with MEN1.
Missense mutation H7174P on exon 3 MEN 1 gene has not previously been reported. The presence of neuroendocrine gastric carcinoma in our patient and his brother, and the gastric cancer which contributed to the death of his family members, suggest a tendency of this novel mutation to cause an aggressive neuroendocrine gastric cancer.