Gene Expression in Hyperparathyroidism

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

22 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-11-07

Study Completion Date

2017-10-18

Brief Summary

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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.

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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.

Conditions

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Parathyroid Disease Hyperparathyroidism

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Young MEN1 Negative Group

Participants under 50 years of age who have been diagnosed with MEN1-negative primary hyperparathyroidism.

Chart Review

Intervention Type OTHER

Patient charts will be reviewed to collect demographic data, pre-operative and post-operative clinical and laboratory data, operative reports, and pathology reports.

HRPT2 Mutation Evaluation

Intervention Type OTHER

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

Interventions

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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.

Intervention Type 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.

Intervention Type OTHER

Eligibility Criteria

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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.