PMID- 9564891
OWN - NLM
STAT- MEDLINE
DCOM- 19980507
LR  - 20041117
IS  - 0023-6837 (Print)
IS  - 0023-6837 (Linking)
VI  - 78
IP  - 4
DP  - 1998 Apr
TI  - Somatic mutations of multiple endocrine neoplasia type 1 gene in the sporadic 
      endocrine tumors.
PG  - 471-5
AB  - Endocrine tumors of the parathyroid and pancreas are encountered either as 
      sporadic type or as part of multiple endocrine neoplasia type 1 (MEN 1). A high 
      frequency of the loss of heterozygosity (LOH) has been observed in tumors of the 
      sporadic type in the locus of the MEN 1 gene, which has recently been cloned and 
      designated the menin gene. It would be of great interest to determine whether 
      somatic mutations in the menin gene are responsible for the sporadic endocrine 
      tumors. For this purpose, we have investigated the menin gene mutations in 21 
      sporadic parathyroid adenomas, 2 parathyroid carcinomas, 4 sporadic insulinomas, 
      and 1 malignant VIP (vasoactive intestinal polypeptide)oma with WDHA (watery 
      diarrhea, hypokalemia, and achlorhydria) syndrome, using PCR-single strand 
      conformation polymorphism analysis and DNA sequencing. In none of these cases did 
      the patient have a family history or other possible association with MEN 1. We 
      have discovered somatic point mutations in two parathyroid adenomas (A340T and 
      A541T), in one insulinoma (T429K), and in the malignant VIPoma (W198X). In 
      addition, we have found two polymorphisms (D418D and V367V) in two parathyroid 
      carcinomas and two parathyroid adenomas. Of these mutations and polymorphisms, 
      three (A340T, T429K, and V367V) are first reported here, in the present article. 
      Our results indicate that somatic mutations of the menin gene are responsible for 
      a proportion of the sporadic parathyroid adenomas and pancreatic islet cell 
      tumors.
FAU - Shan, L
AU  - Shan L
AD  - Department of Pathology, Wakayama Medical College, Wakayama City, Japan.
FAU - Nakamura, Y
AU  - Nakamura Y
FAU - Nakamura, M
AU  - Nakamura M
FAU - Yokoi, T
AU  - Yokoi T
FAU - Tsujimoto, M
AU  - Tsujimoto M
FAU - Arima, R
AU  - Arima R
FAU - Kameya, T
AU  - Kameya T
FAU - Kakudo, K
AU  - Kakudo K
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Lab Invest
JT  - Laboratory investigation; a journal of technical methods and pathology
JID - 0376617
SB  - IM
MH  - Adenoma/genetics
MH  - Adenoma, Islet Cell/genetics
MH  - Humans
MH  - Loss of Heterozygosity
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - *Mutation
MH  - Pancreatic Neoplasms/*genetics
MH  - Parathyroid Neoplasms/*genetics
EDAT- 1998/05/09 00:00
MHDA- 1998/05/09 00:01
CRDT- 1998/05/09 00:00
PHST- 1998/05/09 00:00 [pubmed]
PHST- 1998/05/09 00:01 [medline]
PHST- 1998/05/09 00:00 [entrez]
PST - ppublish
SO  - Lab Invest. 1998 Apr;78(4):471-5.