PMID- 24936550
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210205
IS  - 1530-891X (Print)
IS  - 1530-891X (Linking)
VI  - 20
IP  - 9
DP  - 2014 Sep
TI  - A Novel Deletion Mutation in the MEN1 Gene in a Patient with Prolactinoma and a 
      Family History of Pancreatic Tumors.
PG  - e162-5
LID - 10.4158/EP14046.CR [doi]
AB  - OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant 
      tumor syndrome caused by mutations in the MEN1 gene. Mutations in this tumor 
      suppressor gene are often associated with neuroendocrine tumors. Here we describe 
      a novel deletion mutation at codon 304 in the MEN1 gene of a patient with a 
      prolactinoma and strong family history of pancreatic tumors. METHODS: We describe 
      the patient's clinical course and mutational analysis and review the relevant 
      literature. RESULTS: A 30-year-old pregnant female was referred to our 
      institution's psychological department for treatment of depression. She had 
      developed a prolactinoma at age 17 and was being treated with 1 mg/week of 
      cabergoline. A medical interview revealed a family history of pancreatic islet 
      cell and other tumors; her mother died of pancreatic cancer, her brother is 
      living with gastrinoma, and her sister died of leiomyosarcoma. Extensive 
      examinations performed after delivery, including laboratory tests and computed 
      tomography (CT) scans, did not reveal any other tumors. Mutational analysis of 
      the MEN1 gene identified a heterozygous deletion mutation (c911_914delAGGT) at 
      codon 304. This mutation produces a frameshift at p.304Lys and might disturb the 
      splicing of intron 6 due to the lack of a donor site. The predicted menin protein 
      from the mutated allele is truncated at amino acid 328. CONCLUSION: We report a 
      novel deletion mutation (c911_914delAGGT) in the MEN1 gene that was likely 
      associated with the patient's prolactinoma and her strong family history of 
      pancreatic tumors.
FAU - Kageyama, Kazunori
AU  - Kageyama K
AD  - Department of Endocrinology and Metabolism, Hirosaki University Graduate School 
      of Medicine Department of Endocrinology, Metabolism, and Infectious Diseases, 
      Hirosaki University School of Medicine & Hospital.
FAU - Usui, Takeshi
AU  - Usui T
AD  - Clinical Research Institute, National Hospital Organization, Kyoto Medical 
      Center.
FAU - Yoshizawa, Kaori
AU  - Yoshizawa K
AD  - Department of Neuropsychiatry, Hirosaki University Graduate School of Medicine.
FAU - Daimon, Makoto
AU  - Daimon M
AD  - Department of Endocrinology and Metabolism, Hirosaki University Graduate School 
      of Medicine.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Endocr Pract
JT  - Endocrine practice : official journal of the American College of Endocrinology 
      and the American Association of Clinical Endocrinologists
JID - 9607439
SB  - IM
EDAT- 2014/06/18 06:00
MHDA- 2014/06/18 06:01
CRDT- 2014/06/18 06:00
PHST- 2014/06/18 06:00 [entrez]
PHST- 2014/06/18 06:00 [pubmed]
PHST- 2014/06/18 06:01 [medline]
AID - S1530-891X(20)42232-3 [pii]
AID - 10.4158/EP14046.CR [doi]
PST - ppublish
SO  - Endocr Pract. 2014 Sep;20(9):e162-5. doi: 10.4158/EP14046.CR.