NCT03044600

Gene Expression in Hyperparathyroidism

Gene Expression in Hyperparathyroidism: Identifying Molecular Differences in MEN1 Patients Versus Young MEN1 Negative Patients

• Status: Terminated
• Phase: —
• Study type: Observational
• Enrollment: 22 (actual)
• Sponsor: M.D. Anderson Cancer Center · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

Objectives: 1. To better define the differences in molecular genetics of parathyroid tumors in patients with MEN1, single gland parathyroid disease in patients less than 50 years old and single gland disease in patients greater than 50 years old. 2. To better define the incidence of HRPT2 mutation in young patients with primary hyperparathyroidism and determine whether routine testing in these patients is indicated.

Detailed description

Patient charts will be reviewed to collect demographic data, pre-operative and post-operative clinical and laboratory data, operative reports, and pathology reports. Archived formalin-fixed paraffin-embedded (FFPE) tissue blocks from surgical specimens of patients will be stained for parafibromin to evaluate for HRPT2 mutations.

Conditions

• Parathyroid Disease
• Hyperparathyroidism

Interventions

Type	Name	Description
OTHER	Chart Review	Patient charts will be reviewed to collect demographic data, pre-operative and post-operative clinical and laboratory data, operative reports, and pathology reports.
OTHER	HRPT2 Mutation Evaluation	Archived formalin-fixed paraffin-embedded (FFPE) tissue blocks from surgical specimens of patients stained for parafibromin to evaluate for HRPT2 mutations.

Timeline

• Start date: 2012-11-07
• Primary completion: 2017-10-18
• Completion: 2017-10-18
• First posted: 2017-02-07
• Last updated: 2019-05-23

Locations

1 site across 1 country: United States