PMID- 34384417
OWN - NLM
STAT- MEDLINE
DCOM- 20220110
LR  - 20220110
IS  - 1472-6823 (Electronic)
IS  - 1472-6823 (Linking)
VI  - 21
IP  - 1
DP  - 2021 Aug 12
TI  - Multiple endocrine neoplasia type 1 with a frameshift mutation in its gene 
      accompanied by a giant cervical lipoma and multiple fatty deposits in the 
      pancreas: case report.
PG  - 164
LID - 10.1186/s12902-021-00821-7 [doi]
LID - 164
AB  - BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a syndrome 
      characterized by pituitary neoplasia, primary hyperparathyroidism and pancreatic 
      endocrine tumor. Here we show a case of MEN1 with a germline frameshift mutation 
      in its gene accompanied by a giant cervical lipoma and multiple fatty deposits in 
      the pancreas. CASE PRESENTATION: A 28-year-old man noticed the decreased visual 
      acuity of both eyes and visited our institution. Since he was diagnosed as visual 
      disturbance and brain computer tomography (CT) showed a mass in the pituitary 
      fossa, he was hospitalized in our institution. Endoscopic trans-sphenoidal 
      hypophysectomy and total parathyroidectomy with auto-transplantation were 
      performed, and a giant cervical lipoma was resected. Furthermore, in genetic 
      search, we found a germline frameshift mutation in MEN1 gene leading to the 
      appearance of a new stop codon. CONCLUSIONS: We should bear in m ind that giant 
      skin lipoma and multiple abnormal fatty deposits in the pancreas could be 
      complicated with MEN1.
CI  - (c) 2021. The Author(s).
FAU - Fushimi, Yoshiro
AU  - Fushimi Y
AD  - Department of Diabetes, Endocrinology and Metabolism, Kawasaki Medical School, 
      577 Matsushima, 701-0192, Kurashiki, Japan.
FAU - Kamei, Shinji
AU  - Kamei S
AD  - Department of Diabetic Medicine, Kurashiki Central Hospital, Kurashiki, Japan.
FAU - Tatsumi, Fuminori
AU  - Tatsumi F
AD  - Department of Diabetes, Endocrinology and Metabolism, Kawasaki Medical School, 
      577 Matsushima, 701-0192, Kurashiki, Japan.
FAU - Sanada, Junpei
AU  - Sanada J
AD  - Department of Diabetes, Endocrinology and Metabolism, Kawasaki Medical School, 
      577 Matsushima, 701-0192, Kurashiki, Japan.
FAU - Shimoda, Masashi
AU  - Shimoda M
AD  - Department of Diabetes, Endocrinology and Metabolism, Kawasaki Medical School, 
      577 Matsushima, 701-0192, Kurashiki, Japan.
FAU - Kimura, Tomohiko
AU  - Kimura T
AD  - Department of Diabetes, Endocrinology and Metabolism, Kawasaki Medical School, 
      577 Matsushima, 701-0192, Kurashiki, Japan.
FAU - Obata, Atsushi
AU  - Obata A
AD  - Department of Diabetes, Endocrinology and Metabolism, Kawasaki Medical School, 
      577 Matsushima, 701-0192, Kurashiki, Japan.
FAU - Nakanishi, Shuhei
AU  - Nakanishi S
AD  - Department of Diabetes, Endocrinology and Metabolism, Kawasaki Medical School, 
      577 Matsushima, 701-0192, Kurashiki, Japan.
FAU - Kaku, Kohei
AU  - Kaku K
AD  - Department of Diabetes, Endocrinology and Metabolism, Kawasaki Medical School, 
      577 Matsushima, 701-0192, Kurashiki, Japan.
FAU - Mune, Tomoatsu
AU  - Mune T
AD  - Department of Diabetes, Endocrinology and Metabolism, Kawasaki Medical School, 
      577 Matsushima, 701-0192, Kurashiki, Japan.
FAU - Kaneto, Hideaki
AU  - Kaneto H
AD  - Department of Diabetes, Endocrinology and Metabolism, Kawasaki Medical School, 
      577 Matsushima, 701-0192, Kurashiki, Japan. kaneto@med.kawasaki-m.ac.jp.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20210812
PL  - England
TA  - BMC Endocr Disord
JT  - BMC endocrine disorders
JID - 101088676
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - *Frameshift Mutation
MH  - Humans
MH  - Lipoma/complications/genetics/*pathology/surgery
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/complications/genetics/*pathology/surgery
MH  - Pancreatic Diseases/complications/genetics/*pathology/surgery
MH  - Parathyroidectomy
MH  - Prognosis
MH  - Proto-Oncogene Proteins/*genetics
PMC - PMC8359094
OTO - NOTNLM
OT  - A giant cervical lipoma
OT  - MEN1
OT  - Multiple fatty deposits in the pancreas
COIS- We do not have any potential conflicts of interest relevant to this article.
EDAT- 2021/08/14 06:00
MHDA- 2022/01/11 06:00
PMCR- 2021/08/12
CRDT- 2021/08/13 05:38
PHST- 2021/05/11 00:00 [received]
PHST- 2021/07/20 00:00 [accepted]
PHST- 2021/08/13 05:38 [entrez]
PHST- 2021/08/14 06:00 [pubmed]
PHST- 2022/01/11 06:00 [medline]
PHST- 2021/08/12 00:00 [pmc-release]
AID - 10.1186/s12902-021-00821-7 [pii]
AID - 821 [pii]
AID - 10.1186/s12902-021-00821-7 [doi]
PST - epublish
SO  - BMC Endocr Disord. 2021 Aug 12;21(1):164. doi: 10.1186/s12902-021-00821-7.