• Yoon Young Cho and Yun Jae Chung.
• Division of Endocrinology and Metabolism, Department of Medicine, Soonchunhyang University Bucheon Hospital, Bucheon.
• Medicine (Baltimore). 2021 Jun 25; 100 (25): e26382e26382.

RationaleMultiple endocrine neoplasia type 1 (MEN1) is a rare tumor syndrome with an autosomal dominant inheritance, and genetic testing for MEN1 gene is important for both affected individuals and their relatives. We present a 2-person family affected by a germline c.1546dupC MEN1 mutation, and one of them had a full-spectrum of MEN-related endocrine tumors.Patient ConcernsA female patient aged 32 years presented with jejunal ulcer perforation due to gastrinoma.DiagnosesWe conducted genetic analysis and extensive biochemical/radiological evaluation for detecting other endocrine tumors. Multiple pancreatic neuroendocrine tumors (NETs), prolactinoma and primary hyperparathyroidism were diagnosed, and a frame-shift mutation, NM_130799.1:c.1546dupC (p.Arg516Profs∗15), was detected. One daughter of the proband, aged 12 years, had the same mutation for MEN1.InterventionShe underwent pancreatic surgery for pancreatic NETs and total parathyroidectomy for primary hyperparathyroidism.OutcomesAfter pancreatic surgery, long-term symptoms of epigastric soreness, acid belching, sweating, and palpitation in fasting were improved. Hypercalcemia was improved after parathyroidectomy and she was supplemented with oral calcium and vitamin D. Her daughter showed normal biochemical surveillance until 15 years of age.LessonsWe report 2 people in a family affected by MEN1 with the heterozygous germline c.1546dupC mutation, a variant that should be surveilled for early development of full-blown MEN1-associated endocrine tumors.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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