Gene Expression in Hyperparathyroidism

Terminated

• Conditions: Hyperparathyroidism; Parathyroid Disease
• Interventions: Other: Chart Review; Other: HRPT2 Mutation Evaluation

• Registration Number: NCT03044600
• Lead Sponsor: M.D. Anderson Cancer Center

Brief 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.

Study Timeline

• Study Start: 2012-11-07
• Study First Submitted: 2017-02-03
• Study First Submitted QC: 2017-02-03
• Study First Posted: 2017-02-07
• Primary Completion: 2017-10-18
• Study Completion: 2017-10-18
• Status Verified: 2019-05
• Last Update Submitted: 2019-05-21
• Last Update Posted: 2019-05-23

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 22

Inclusion Criteria

1. All patients previously enrolled in parathyroid tissue banking under protocol Lab08-0034.
2. For the subgroup designated for HRPT2 mutation testing:

Patients with primary hyperparathyroidism who are younger than 50 years of age and have tested negative for MEN1, between January 1, 1980 and the present.

Exclusion Criteria

N/A

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Young MEN1 Negative Group	Chart Review	Participants under 50 years of age who have been diagnosed with MEN1-negative primary hyperparathyroidism.
Young MEN1 Negative Group	HRPT2 Mutation Evaluation	Participants under 50 years of age who have been diagnosed with MEN1-negative primary hyperparathyroidism.

Primary Outcome Measures

Name	Time	Method
Molecular Genetics of Parathyroid Tumors	10 years	RNA isolated from banked frozen tissues. cDNA microarray prepared using an Illumina array chip. Results analyzed using Ingenuity analysis software to detect 2-fold changes in gene expression. T-statistics used to determine significantly discriminating genes.

Secondary Outcome Measures

Name	Time	Method
HRPT2 Mutations	10 years	Archived formalin-fixed paraffin-embedded (FFPE) tissue blocks from surgical specimens of patients stained for parafibromin to evaluate for HRPT2 mutations.

Trial Locations

Locations (1)

University of Texas MD Anderson Cancer Center; 🇺🇸 Houston, Texas, United States