Molecular biology of primary hyperparathyroidism.
As molecular biology and genetic mapping receive wider application to human disease, genetic alterations have been identified with increased frequency in some patients with primary hyperparathyroidism(HPT). These alterations have been found in molecules related to cellular signaling and growth (RET proto-oncogene)and in tumor suppressors that control cell cycle progression and gene transcription (cyclin D1 and the MEN1 gene product. Although primary HPT can usually be treated surgically without knowledge of which specific genetic alteration has occurred, this information may assist clinicians in identifying which patients will go on to develop multiglandular or recurrent disease. In addition,such an approach would facilitate more appropriate postoperative surveillance, as well as counseling and screening of family members who may be at high risk for HPT.
Ferris
Robert L
RL
Department of Otolaryngology, University of Pittsburgh Eye and Ear Institute, 203 Lothrop Street, Suite 500, Pittsburgh, PA 15213, USA. ferrisrl@upmc.edu
Simental
Alfred A
AA
D000236:Adenoma / Q000175:diagnosis / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D006961:Hyperparathyroidism / Q000175:diagnosis / Q000235:genetics*; D009377:Multiple Endocrine Neoplasia / Q000235:genetics; D009154:Mutation; D010282:Parathyroid Neoplasms / Q000175:diagnosis / Q000235:genetics; D000090063:Proto-Oncogene Mas; D012307:Risk Factors