Gene Expression in Hyperparathyroidism

Sponsor

M.D. Anderson Cancer Center (Other)

Overall Status

Terminated

CT.gov ID

NCT03044600

Collaborator

(none)

Enrollment

Location

59.3

Actual Duration (Months)

0.4

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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.

Condition or Disease	Intervention/Treatment	Phase
Parathyroid Disease Hyperparathyroidism	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 Design

Study Type:

Observational

Actual Enrollment :

22 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

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

Actual Study Start Date :

Nov 7, 2012

Actual Primary Completion Date :

Oct 18, 2017

Actual Study Completion Date :

Oct 18, 2017

Arms and Interventions

Arm	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.

Arm

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.

Outcome Measures

Primary Outcome Measures

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

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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.