Presumed Familial Late-Onset Medullary Thyroid Cancer in a patient with a germline point mutation, c. 2304 G->T, in RET proto-oncogene codon 768: specific mutation may guide timing of prophylactic total thyroidectomy in affected family members

Authors

Susan Gerber, MD, Thomas Jefferson UniversityFollow
Madalina Tuluc, MD, PhD, Thomas Jefferson UniversityFollow
Serge Jabbour, MD, FACP, FACE, Thomas Jefferson UniversityFollow

Document Type

Poster

Publication Date

6-8-2013

Comments

Presented at The Endocrine Society 2013 annual meeting in San Francisco.

Abstract

Medullary thyroid carcinoma (MTC) accounts for 15% of thyroid cancers. It arises in the C-cells of the thyroid, and is often metastatic at presentation. Approximately 75% of MTC cases are sporadic. Heritable MTC is subdivided into three categories: MEN2A, familial medullary thyroid carcinoma (FMTC), and MEN2B. Determination of the particular mutation may guide the timing of prophylactic total thyroidectomy in family members who carry the mutation.

Recommended Citation

Gerber, MD, Susan; Tuluc, MD, PhD, Madalina; and Jabbour, MD, FACP, FACE, Serge, "Presumed Familial Late-Onset Medullary Thyroid Cancer in a patient with a germline point mutation, c. 2304 G->T, in RET proto-oncogene codon 768: specific mutation may guide timing of prophylactic total thyroidectomy in affected family members" (2013). Department of Medicine Faculty Papers. Paper 89.
https://jdc.jefferson.edu/medfp/89