PMID- 37908584
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231102
IS  - 2755-1520 (Electronic)
IS  - 2755-1520 (Linking)
VI  - 1
IP  - 3
DP  - 2023 May
TI  - A Novel Pathogenic MEN1 Gene Variant Identified in a Family With Multiple 
      Pancreatic Neuroendocrine Tumors.
PG  - luad078
LID - 10.1210/jcemcr/luad078 [doi]
LID - luad078
AB  - Multiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine tumor 
      syndrome caused by pathogenic variants in the MEN1 gene, and most patients with 
      this syndrome initially develop primary hyperparathyroidism (PHPT). Here, we 
      report the case of a family wherein a germline MEN1 variant was detected and 
      multiple pancreatic neuroendocrine tumors (PanNETs) were observed at the initial 
      evaluation. A 40-year-old woman presented with a complaint of abdominal 
      discomfort, and a close examination revealed multiple pancreatic tumors. Distal 
      pancreatectomy with splenectomy was performed, and the diagnosis was 
      nonfunctional PanNETs. Five years later, her 76-year-old mother was referred to 
      the hospital with multiple pancreatic tumors. A genetic test revealed that both 
      patients harbored a previously unreported germline variant in the MEN1 gene. 
      Although it was classified as a variant of uncertain significance, we suspect 
      that it may be associated with the pathogenesis of these lesions. This case 
      report presents a new disease concept-familial isolated pancreatic neuroendocrine 
      tumors, or FIPNETs-in patients harboring a pathogenic variant in the MEN1 gene 
      who experience only pancreatic lesions. We suggest that clinicians consider 
      genetic testing for the MEN1 gene in patients with multiple pancreatic lesions 
      who show no signs of PHPT.
CI  - (c) The Author(s) 2023. Published by Oxford University Press on behalf of the 
      Endocrine Society.
FAU - Horikoshi, Hirofumi
AU  - Horikoshi H
AUID- ORCID: 0000-0002-1988-5289
AD  - Department of Nephrology and Endocrinology, Graduate School of Medicine, the 
      University of Tokyo, Tokyo 113-8655, Japan.
FAU - Arita, Junichi
AU  - Arita J
AD  - Department of Gastroenterological Surgery, Akita University Graduate School of 
      Medicine, Akita 010-8543, Japan.
FAU - Hasegawa, Kiyoshi
AU  - Hasegawa K
AD  - Hepato-Biliary-Pancreatic Surgery Division, Department of Surgery, Graduate 
      School of Medicine, the University of Tokyo, Tokyo 113-8655, Japan.
FAU - Makita, Noriko
AU  - Makita N
AUID- ORCID: 0000-0002-5722-115X
AD  - Department of Nephrology and Endocrinology, Graduate School of Medicine, the 
      University of Tokyo, Tokyo 113-8655, Japan.
LA  - eng
PT  - Case Reports
DEP - 20230628
PL  - England
TA  - JCEM Case Rep
JT  - JCEM case reports
JID - 9918609886906676
PMC - PMC10580482
OTO - NOTNLM
OT  - multiple endocrine neoplasia type 1 (MEN1)
OT  - multiple pancreatic neuroendocrine tumors (PanNETs)
OT  - pathogenic missense variant
EDAT- 2023/11/01 06:43
MHDA- 2023/11/01 06:44
PMCR- 2023/06/28
CRDT- 2023/11/01 03:56
PHST- 2023/03/13 00:00 [received]
PHST- 2023/11/01 06:44 [medline]
PHST- 2023/11/01 06:43 [pubmed]
PHST- 2023/11/01 03:56 [entrez]
PHST- 2023/06/28 00:00 [pmc-release]
AID - luad078 [pii]
AID - 10.1210/jcemcr/luad078 [doi]
PST - epublish
SO  - JCEM Case Rep. 2023 Jun 28;1(3):luad078. doi: 10.1210/jcemcr/luad078. eCollection 
      2023 May.