Article

A newly recognized germline mutation of MEN1 gene identified in a patient with parathyroid adenoma and carcinoma

Endocrine (impact factor: 1.42). 04/2012; 12(3):223-226. DOI:10.1385/ENDO:12:3:223 pp.223-226

ABSTRACT We report on a patient with primary hyperparathyroidism, owing to the concurrence of parathyroid adenoma with carcinoma, who
had a newly recognized germline mutation of the multiple endocrine neoplasia type 1 gene (MEN1 gene). The patient underwent total parathyroidectomy, and histological examination revealed parathyroid carcinoma and multiple
adenoma of the other three glands. Genetic analysis revealed a newly recognized heterozygous germline mutation (842deIC, exon
4) of the MEN1 gene. Both imaging studies and laboratory data showed no evidence of MEN 1 in the patient. Four family members—three sisters
and one daughter—had neither clinical features of MEN 1 nor genetic evidence of the MEN1 gene. This is the first report of a germline mutation of the MEN 1 gene found in a patient who exhibited the concurrence of parathyroid adenoma with carcinoma, suggesting that long-term hyperactivity
of the parathyroids may result in the formation of carcinoma.

0 0
 · 
0 Bookmarks
 · 
43 Views
Data provided are for informational purposes only. Although carefully collected, accuracy cannot be guaranteed. The impact factor represents a rough estimation of the journal's impact factor and does not reflect the actual current impact factor. Publisher conditions are provided by RoMEO. Differing provisions from the publisher's actual policy or licence agreement may be applicable.

Keywords

carcinoma
 
clinical features
 
family members—three sisters
 
first report
 
Genetic analysis
 
genetic evidence
 
germline mutation
 
histological examination
 
imaging studies
 
laboratory data
 
long-term hyperactivity
 
MEN 1
 
MEN 1 gene
 
MEN1 gene
 
multiple endocrine neoplasia type 1 gene
 
parathyroid adenoma
 
parathyroid carcinoma
 
recognized germline mutation
 
recognized heterozygous germline mutation