Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing (Temporary Referral as of 12/07/20)

Interpretive Data:
Background Information:
Characteristics: Medullary carcinoma of the thyroid, pheochromocytoma, parathyroid adenoma/hyperplasia; dependent on specific MEN type 2 subtype.
Incidence: Approximately 1 in 30,000.
Inheritance: Autosomal dominant. 50 percent de novo mutations in MEN 2B.
Penetrance: Incomplete. Varies by subtype.
Cause: RET proto-oncogene mutations.
Clinical Sensitivity: 95 percent for MEN 2A, 88 percent for FMTC, and 98 percent for MEN 2B.
Methodology: Bidirectional sequencing of exons 5, 8, 10, 11, and 13-16.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Mutations in RET proto-oncogene introns, regulatory regions, or exons not targeted for sequencing will not be identified. Diagnostic errors can occur due to rare sequence variations. This assay is not designed to detect somatic variants associated with malignancy. Interpretation of this test result may be impacted if the patient has had an allogeneic stem cell transplantation.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.