title: VIPoma with multiple endocrine neoplasia type 1 identified as an atypical gene mutation.
abstract: A 47-year-old man presented with persistent diarrhoea and hypokalaemia. CT revealed 4 pancreatic tumours that appeared to be VIPomas, because the patient had an elevated plasma vasoactive intestinal polypeptide level. MRI showed a low-intensity area in the pituitary suggestive of a pituitary tumour, and a parathyroid tumour was detected by ultrasonography and 99Tc-MIBI scintigraphy. Given these results, the patient was diagnosed with multiple endocrine neoplasia type 1 (MEN1) and scheduled for surgery. MEN1 is an autosomal dominant disorder associated with MEN1 mutations. Genetic testing indicated that the patient had a MEN1 gene mutation; his 2 sons had the same mutations. Most MEN1 tumours are benign, but some pancreatic and thymic tumours could become malignant. Without treatment, such tumours would result in earlier mortality. Despite its rarity, we should perform genetic testing for family members of patients with MEN1 to identify mutation carriers and improve the patients' prognosis.
authors.affiliation: Department of Diabetology and Nephrology, Ogaki Municipal Hospital, Ogaki, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Fujiya
authors.affiliation: Department of Diabetology and Nephrology, Ogaki Municipal Hospital, Ogaki, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Kato
authors.affiliation: Department of Diabetology and Nephrology, Ogaki Municipal Hospital, Ogaki, Japan.
authors.forename: Taiga
authors.initials: T
authors.lastname: Shibata
authors.affiliation: Department of Diabetology and Nephrology, Ogaki Municipal Hospital, Ogaki, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Sobajima
mesh_terms: D003967:Diarrhea / Q000209:etiology*; D005820:Genetic Testing; D006801:Humans; D007008:Hypokalemia / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010190:Pancreatic Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D016577:Pancreaticoduodenectomy; D010282:Parathyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D011379:Prognosis; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D016896:Treatment Outcome; D003969:Vipoma / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000601:surgery
chemical_list: C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins