Gene Expression in Hyperparathyroidism

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

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.

Study Overview

• Status: Terminated
• Conditions: Hyperparathyroidism; Parathyroid Disease
• Intervention / Treatment: Other: Chart Review; Other: HRPT2 Mutation Evaluation

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 Type: Observational
• Enrollment (Actual): 22

Contacts and Locations

Study Locations

• United States
  • Texas
    • Houston, Texas, United States, 77030
      • University of Texas MD Anderson Cancer Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Participants with parathyroid tumors at MD Anderson Cancer Center

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Young MEN1 Negative Group; Participants under 50 years of age who have been diagnosed with MEN1-negative primary hyperparathyroidism.	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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Molecular Genetics of Parathyroid Tumors	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.	10 years

Secondary Outcome Measures

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

Collaborators and Investigators

• Sponsor: M.D. Anderson Cancer Center
• Investigators: Principal Investigator: Nancy D. Perrier, MD, M.D. Anderson Cancer Center

Publications and helpful links

Helpful Links

• University of Texas MD Anderson Cancer Center Website

Study record dates

Study Major Dates

• Study Start (Actual): November 7, 2012
• Primary Completion (Actual): October 18, 2017
• Study Completion (Actual): October 18, 2017

Study Registration Dates

• First Submitted: February 3, 2017
• First Submitted That Met QC Criteria: February 3, 2017
• First Posted (Estimate): February 7, 2017

Study Record Updates

• Last Update Posted (Actual): May 23, 2019
• Last Update Submitted That Met QC Criteria: May 21, 2019
• Last Verified: May 1, 2019

More Information

Terms related to this study

• Keywords: Hyperparathyroidism; Chart review; Parathyroid disease; MEN1-negative; HRPT2 mutations
• Additional Relevant MeSH Terms: Endocrine System Diseases; Hyperparathyroidism; Parathyroid Diseases
• Other Study ID Numbers: PA12-0944

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No