MEN1 gene alterations do not correlate with the phenotype of sporadic primary hyperparathyroidism.
Loss of heterozygosity (LOH) in the MEN1 region on chromosome 11q13 and MEN1 gene mutations have been found in a subset of sporadic parathyroid tumors. The question of whether these genetic abnormalities in the parathyroid tumors might influence the clinical and biochemical characteristics of primary hyperparathyroidism (PHPT) remains to be elucidated. The aim of the present study was to correlate the presence of MEN1 gene alterations in PHPT tumors with the clinical phenotype. Using microsatellite analysis for LOH at 11q13 and DNA sequencing of the coding exons, the MEN1 gene was studied in 38 parathyroid tumors of patients with sporadic PHPT. Fourteen tumors showed LOH at 11q13, and mutations of MEN1 gene were detected in 7 cases. The clinical and biochemical characteristics of patients were unrelated to the presence or absence of LOH and/or MEN1 gene mutations. In conclusion, MEN1 gene alterations are rather common in sporadic PHPT and their presence does not correlate with the clinical manifestations of the disease.
Cetani
F
F
Department of Endocrinology and Metabolism, Orthopedics and Traumatology, and Occupational Medicine, University of Pisa, Italy.
Pardi
E
E
Vignali
E
E
Borsari
S
S
Picone
A
A
Cianferotti
L
L
Ambrogini
E
E
Miccoli
P
P
Pinchera
A
A
Marcocci
C
C
D000236:Adenoma / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics*; D019656:Loss of Heterozygosity; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D009154:Mutation; D010282:Parathyroid Neoplasms / Q000235:genetics*; D010641:Phenotype; D017422:Sequence Analysis, DNA