PMID- 14686752
OWN - NLM
STAT- MEDLINE
DCOM- 20040401
LR  - 20190605
IS  - 0918-2918 (Print)
IS  - 0918-2918 (Linking)
VI  - 42
IP  - 11
DP  - 2003 Nov
TI  - A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 
      1 patient associated with carcinoid syndrome.
PG  - 1112-6
AB  - We report a multiple endocrine neoplasia type 1 (MEN1) patient associated with 
      carcinoid syndrome. A 50-year-old woman had parathyroid hyperplasia with primary 
      hyperparathyroidism, a pancreatic tumor and carcinoid tumors in the liver and 
      duodenum. The primary lesion of the carcinoid was probably the bronchus. Direct 
      sequencing analysis revealed a novel missense mutation at codon 342 in exon 7 
      causing an amino acid change from alanine to proline (A342P) of the MEN1 gene. 
      Loss of heterozygosity (LOH) was also detected in the resected parathyroid 
      tissue. This mutation appeared to play an important role in the tumorigenesis of 
      the endocrine tissues in the present case.
FAU - Ukita, Chizuko
AU  - Ukita C
AD  - Department of Internal Medicine, Kyoto First Red Cross Hospital, 15-749 Honmachi, 
      Higashiyama-ku, Kyoto 605-0981.
FAU - Yamaguchi, Makiko
AU  - Yamaguchi M
FAU - Tanaka, Toru
AU  - Tanaka T
FAU - Shigeta, Hirofumi
AU  - Shigeta H
FAU - Nishikawa, Mitsushige
AU  - Nishikawa M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Japan
TA  - Intern Med
JT  - Internal medicine (Tokyo, Japan)
JID - 9204241
RN  - 9DLQ4CIU6V (Proline)
RN  - OF5P57N2ZX (Alanine)
SB  - IM
MH  - Alanine/genetics
MH  - Carcinoid Tumor/*genetics
MH  - DNA Mutational Analysis
MH  - Duodenal Neoplasms/genetics
MH  - Female
MH  - Fluorescence
MH  - Humans
MH  - Hyperparathyroidism/genetics
MH  - Immunohistochemistry
MH  - Liver Neoplasms/genetics/pathology
MH  - Loss of Heterozygosity
MH  - Microsatellite Repeats
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - *Mutation, Missense
MH  - Pancreatic Neoplasms/genetics
MH  - Parathyroid Glands/metabolism
MH  - Proline/genetics
EDAT- 2003/12/23 05:00
MHDA- 2004/04/02 05:00
CRDT- 2003/12/23 05:00
PHST- 2003/12/23 05:00 [pubmed]
PHST- 2004/04/02 05:00 [medline]
PHST- 2003/12/23 05:00 [entrez]
AID - 10.2169/internalmedicine.42.1112 [doi]
PST - ppublish
SO  - Intern Med. 2003 Nov;42(11):1112-6. doi: 10.2169/internalmedicine.42.1112.