Gene Expression in Hyperparathyroidism

M.D. Anderson Cancer Center

Status: Terminated

Conditions: Parathyroid Disease; Hyperparathyroidism

Treatments: Other: HRPT2 Mutation Evaluation; Other: Chart Review

Study type: Observational

Funder types: Other

Identifiers

NCT03044600

PA12-0944

Details and patient eligibility

About

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.

Full 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.

Enrollment: 22 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

22 participants in 1 patient group

Young MEN1 Negative Group

Description:

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

Treatment:

Other: HRPT2 Mutation Evaluation

Other: Chart Review