Gene Expression in Hyperparathyroidism

Study Overview
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Brief Summary
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Objectives: 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. 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
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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.

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

Conditions
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Parathyroid Disease, Hyperparathyroidism

Intervention / Treatment
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* Other: Chart Review
* Other: HRPT2 Mutation Evaluation


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: All patients previously enrolled in parathyroid tissue banking under protocol Lab08-0034. 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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Young MEN1 Negative Group<br>Participants under 50 years of age who have been diagnosed with MEN1-negative primary hyperparathyroidism. | Other: Chart Review<br>* Patient charts will be reviewed to collect demographic data, pre-operative and post-operative clinical and laboratory data, operative reports, and pathology reports.<br>Other: HRPT2 Mutation Evaluation<br>* Archived formalin-fixed paraffin-embedded (FFPE) tissue blocks from surgical specimens of patients stained for parafibromin to evaluate for HRPT2 mutations.<br>|

What is the study measuring?
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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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Parathyroid disease, Hyperparathyroidism, Chart review, MEN1-negative, HRPT2 mutations