PMID- 37179722
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230920
IS  - 2433-3298 (Electronic)
IS  - 2433-328X (Print)
IS  - 2433-328X (Linking)
VI  - 6
IP  - 2
DP  - 2023 Apr 14
TI  - A Novel Missense MEN1 Mutation in a Sporadic Case of Multiple Endocrine Neoplasia 
      Type 1 Complicated with Papillary Thyroid Carcinoma.
PG  - 216-219
LID - 10.31662/jmaj.2022-0187 [doi]
AB  - Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic disorder, resulting 
      from MEN1 gene abnormalities, which causes tumors mainly in the endocrine glands. 
      We experienced a sporadic case of MEN1 complicated with papillary thyroid 
      carcinoma (PTC) and found a novel missense mutation in the patient's MEN1 gene. 
      Her older sister, who showed no typical symptom of MEN1, had a history of PTC, 
      suggesting the presence of another genetic factor involved in PTC development. 
      This case suggests the importance of an individual's genetic background in the 
      development of MEN1 complications.
CI  - Copyright (c) Japan Medical Association.
FAU - Shibuya, Koji
AU  - Shibuya K
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi 
      Medical University School of Medicine, Shimotsuke, Japan.
FAU - Ebihara, Ken
AU  - Ebihara K
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi 
      Medical University School of Medicine, Shimotsuke, Japan.
FAU - Takahashi, Manabu
AU  - Takahashi M
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi 
      Medical University School of Medicine, Shimotsuke, Japan.
FAU - Kurashina, Tomoyuki
AU  - Kurashina T
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi 
      Medical University School of Medicine, Shimotsuke, Japan.
FAU - Nagashima, Shuichi
AU  - Nagashima S
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi 
      Medical University School of Medicine, Shimotsuke, Japan.
FAU - Okada, Kenta
AU  - Okada K
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi 
      Medical University School of Medicine, Shimotsuke, Japan.
FAU - Ishibashi, Shun
AU  - Ishibashi S
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi 
      Medical University School of Medicine, Shimotsuke, Japan.
LA  - eng
PT  - Case Reports
DEP - 20230306
PL  - Japan
TA  - JMA J
JT  - JMA journal
JID - 101769797
PMC - PMC10169261
OTO - NOTNLM
OT  - MEN1
OT  - missense mutation
OT  - papillary thyroid carcinoma
COIS- None
EDAT- 2023/05/14 13:10
MHDA- 2023/05/14 13:11
PMCR- 2023/03/06
CRDT- 2023/05/14 11:56
PHST- 2022/10/31 00:00 [received]
PHST- 2022/11/25 00:00 [accepted]
PHST- 2023/05/14 13:10 [pubmed]
PHST- 2023/05/14 13:11 [medline]
PHST- 2023/05/14 11:56 [entrez]
PHST- 2023/03/06 00:00 [pmc-release]
AID - 10.31662/jmaj.2022-0187 [doi]
PST - ppublish
SO  - JMA J. 2023 Apr 14;6(2):216-219. doi: 10.31662/jmaj.2022-0187. Epub 2023 Mar 6.