PMID- 34160414
OWN - NLM
STAT- MEDLINE
DCOM- 20210630
LR  - 20230103
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Print)
IS  - 0025-7974 (Linking)
VI  - 100
IP  - 25
DP  - 2021 Jun 25
TI  - A germline c.1546dupC MEN1 mutation in an MEN1 family: A case report.
PG  - e26382
LID - 10.1097/MD.0000000000026382 [doi]
LID - e26382
AB  - RATIONALE: Multiple 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 CONCERNS: A female 
      patient aged 32 years presented with jejunal ulcer perforation due to gastrinoma. 
      DIAGNOSES: We 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. INTERVENTION: She underwent pancreatic surgery for pancreatic NETs and 
      total parathyroidectomy for primary hyperparathyroidism. OUTCOMES: After 
      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. 
      LESSONS: We 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.
CI  - Copyright (c) 2021 the Author(s). Published by Wolters Kluwer Health, Inc.
FAU - Cho, Yoon Young
AU  - Cho YY
AD  - Division of Endocrinology and Metabolism, Department of Medicine, Soonchunhyang 
      University Bucheon Hospital, Bucheon.
FAU - Chung, Yun Jae
AU  - Chung YJ
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, 
      Chung-Ang University, College of Medicine, Seoul, Korea.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adenoma/diagnosis/genetics/surgery
MH  - Adult
MH  - Child
MH  - Female
MH  - Frameshift Mutation
MH  - Gastrinoma/diagnosis/genetics/surgery
MH  - Genetic Testing
MH  - Germ-Line Mutation
MH  - Glucagonoma
MH  - Heterozygote
MH  - Humans
MH  - Hyperparathyroidism, Primary/diagnosis/genetics/surgery
MH  - Insulinoma
MH  - Multiple Endocrine Neoplasia Type 1/complications/*diagnosis/genetics/surgery
MH  - Neoplasms, Multiple Primary/*diagnosis/genetics/surgery
MH  - Neuroendocrine Tumors/*diagnosis/genetics/surgery
MH  - Pancreatic Neoplasms/diagnosis/genetics/surgery
MH  - Parathyroid Neoplasms/diagnosis/genetics/surgery
MH  - Parathyroidectomy
MH  - Prolactinoma/diagnosis/genetics/surgery
MH  - Proto-Oncogene Proteins/*genetics
PMC - PMC8238345
COIS- Conflict of Interest: The authors declare that the research was conducted in the 
      absence of any commercial or financial relationships that could be construed as a 
      potential conflict of interest. The authors report no conflicts of interest.
EDAT- 2021/06/24 06:00
MHDA- 2021/07/01 06:00
PMCR- 2021/06/25
CRDT- 2021/06/23 12:20
PHST- 2021/04/08 00:00 [received]
PHST- 2021/06/02 00:00 [accepted]
PHST- 2021/06/23 12:20 [entrez]
PHST- 2021/06/24 06:00 [pubmed]
PHST- 2021/07/01 06:00 [medline]
PHST- 2021/06/25 00:00 [pmc-release]
AID - 00005792-202106250-00037 [pii]
AID - MD-D-21-02676 [pii]
AID - 10.1097/MD.0000000000026382 [doi]
PST - ppublish
SO  - Medicine (Baltimore). 2021 Jun 25;100(25):e26382. doi: 
      10.1097/MD.0000000000026382.