PMID- 26564120
OWN - NLM
STAT- MEDLINE
DCOM- 20160921
LR  - 20190201
IS  - 1757-790X (Electronic)
IS  - 1757-790X (Linking)
VI  - 2015
DP  - 2015 Nov 12
TI  - VIPoma with multiple endocrine neoplasia type 1 identified as an atypical gene 
      mutation.
LID - 10.1136/bcr-2015-213016 [doi]
LID - bcr2015213016
AB  - A 47-year-old man presented with persistent diarrhoea and hypokalaemia. CT 
      revealed 4 pancreatic tumours that appeared to be VIPomas, because the patient 
      had an elevated plasma vasoactive intestinal polypeptide level. MRI showed a 
      low-intensity area in the pituitary suggestive of a pituitary tumour, and a 
      parathyroid tumour was detected by ultrasonography and 99Tc-MIBI scintigraphy. 
      Given these results, the patient was diagnosed with multiple endocrine neoplasia 
      type 1 (MEN1) and scheduled for surgery. MEN1 is an autosomal dominant disorder 
      associated with MEN1 mutations. Genetic testing indicated that the patient had a 
      MEN1 gene mutation; his 2 sons had the same mutations. Most MEN1 tumours are 
      benign, but some pancreatic and thymic tumours could become malignant. Without 
      treatment, such tumours would result in earlier mortality. Despite its rarity, we 
      should perform genetic testing for family members of patients with MEN1 to 
      identify mutation carriers and improve the patients' prognosis.
CI  - 2015 BMJ Publishing Group Ltd.
FAU - Fujiya, Atsushi
AU  - Fujiya A
AD  - Department of Diabetology and Nephrology, Ogaki Municipal Hospital, Ogaki, Japan.
FAU - Kato, Makoto
AU  - Kato M
AD  - Department of Diabetology and Nephrology, Ogaki Municipal Hospital, Ogaki, Japan.
FAU - Shibata, Taiga
AU  - Shibata T
AD  - Department of Diabetology and Nephrology, Ogaki Municipal Hospital, Ogaki, Japan.
FAU - Sobajima, Hiroshi
AU  - Sobajima H
AD  - Department of Diabetology and Nephrology, Ogaki Municipal Hospital, Ogaki, Japan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20151112
PL  - England
TA  - BMJ Case Rep
JT  - BMJ case reports
JID - 101526291
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Diarrhea/*etiology
MH  - *Genetic Testing
MH  - Humans
MH  - Hypokalemia/*etiology
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Pancreatic Neoplasms/*diagnosis/genetics/pathology/surgery
MH  - Pancreaticoduodenectomy
MH  - Parathyroid Neoplasms/*diagnosis/genetics/pathology/surgery
MH  - Prognosis
MH  - Proto-Oncogene Proteins/*genetics
MH  - Treatment Outcome
MH  - Vipoma/*diagnosis/genetics/pathology/surgery
PMC - PMC4654027
EDAT- 2015/11/14 06:00
MHDA- 2016/09/23 06:00
PMCR- 2017/11/12
CRDT- 2015/11/14 06:00
PHST- 2015/11/14 06:00 [entrez]
PHST- 2015/11/14 06:00 [pubmed]
PHST- 2016/09/23 06:00 [medline]
PHST- 2017/11/12 00:00 [pmc-release]
AID - bcr-2015-213016 [pii]
AID - 10.1136/bcr-2015-213016 [doi]
PST - epublish
SO  - BMJ Case Rep. 2015 Nov 12;2015:bcr2015213016. doi: 10.1136/bcr-2015-213016.