PMID- 37661450
OWN - NLM
STAT- MEDLINE
DCOM- 20240416
LR  - 20240512
IS  - 1349-7235 (Electronic)
IS  - 0918-2918 (Print)
IS  - 0918-2918 (Linking)
VI  - 63
IP  - 8
DP  - 2024 Apr 15
TI  - A Japanese Family Meeting the Clinical Diagnostic Criteria for MEN1 with a MEN1 
      Variant of Uncertain Significance.
PG  - 1119-1123
LID - 10.2169/internalmedicine.2300-23 [doi]
AB  - Multiple gastroenteric, pancreatic, and pituitary neuroendocrine neoplasms (NENs) 
      were diagnosed in a 74-year-old man with a history of primary hyperparathyroidism 
      (PHPT). Germline testing demonstrated a variant of MEN1 (c.1694T>A, p.L565Q), 
      whose pathogenicity was classified as a variant of uncertain significance (VUS) 
      according to the ACMG/AMP guidelines. The same germline variant was detected in 
      the patient's son and daughter, who also showed PHPT or hypercalcemia and met the 
      clinical diagnostic criteria for multiple endocrine neoplasia type 1 (MEN1). 
      During surveillance of the son, multiple pancreatic tumors suggestive of NENs 
      were detected. The pathogenicity of the current MEN1 variant was re-evaluated as 
      likely pathogenic, based on additional family data.
FAU - Matsubayashi, Hiroyuki
AU  - Matsubayashi H
AD  - Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan.
AD  - Division of Endoscopy, Shizuoka Cancer Center, Japan.
FAU - Kiyozumi, Yoshimi
AU  - Kiyozumi Y
AD  - Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan.
FAU - Harada, Rina
AU  - Harada R
AD  - Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan.
FAU - Mukaigawa, Takashi
AU  - Mukaigawa T
AD  - Division of Head and Neck Surgery, Shizuoka Cancer Center, Japan.
FAU - Sugiura, Teichi
AU  - Sugiura T
AD  - Division of Hepato-Biliary-Pancreatic Surgery, Shizuoka Cancer Center, Japan.
FAU - Ishiwatari, Hirotoshi
AU  - Ishiwatari H
AD  - Division of Endoscopy, Shizuoka Cancer Center, Japan.
FAU - Sato, Junya
AU  - Sato J
AD  - Division of Endoscopy, Shizuoka Cancer Center, Japan.
FAU - Niiya, Fumitaka
AU  - Niiya F
AD  - Division of Endoscopy, Shizuoka Cancer Center, Japan.
FAU - Nakashima, Kazuaki
AU  - Nakashima K
AD  - Division of Breast Imaging and Breast Intervention Radiology, Shizuoka Cancer 
      Center, Japan.
FAU - Kado, Nobuhiro
AU  - Kado N
AD  - Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan.
FAU - Nishimura, Seiichiro
AU  - Nishimura S
AD  - Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Japan.
FAU - Honda, Goichi
AU  - Honda G
AD  - Division of Research Center, Shizuoka Cancer Center, Japan.
FAU - Ohike, Nobuyuki
AU  - Ohike N
AD  - Division of Pathology, Shizuoka Cancer Center, Japan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20230901
PL  - Japan
TA  - Intern Med
JT  - Internal medicine (Tokyo, Japan)
JID - 9204241
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - Japanese people
SB  - IM
MH  - Aged
MH  - Humans
MH  - Male
MH  - Germ-Line Mutation
MH  - Japan
MH  - *Multiple Endocrine Neoplasia Type 1/diagnosis/genetics/pathology
MH  - *Neuroendocrine Tumors/pathology
MH  - *Pituitary Neoplasms
MH  - Proto-Oncogene Proteins/genetics
MH  - East Asian People/genetics
PMC - PMC11081883
OTO - NOTNLM
OT  - MEN1
OT  - neuroendocrine tumor
OT  - pancreas
OT  - variant of uncertain significance
COIS- The authors state that they have no Conflict of Interest (COI).
EDAT- 2023/09/04 06:42
MHDA- 2024/04/16 12:44
PMCR- 2024/04/15
CRDT- 2023/09/04 00:54
PHST- 2024/04/16 12:44 [medline]
PHST- 2023/09/04 06:42 [pubmed]
PHST- 2023/09/04 00:54 [entrez]
PHST- 2024/04/15 00:00 [pmc-release]
AID - 10.2169/internalmedicine.2300-23 [doi]
PST - ppublish
SO  - Intern Med. 2024 Apr 15;63(8):1119-1123. doi: 10.2169/internalmedicine.2300-23. 
      Epub 2023 Sep 1.