Medullary Thyroid Carcinoma Associated with Germline RET^K666N Mutation.

ABSTRACT:

Background

Multiple endocrine neoplasia type 2 is an autosomal dominant inherited syndrome caused by activating mutations in the RET proto-oncogene. The RET^K666N DNA variant was previously reported in two isolated medullary thyroid carcinoma (MTC) cases, but no family studies are available, and its oncogenic significance remains unknown.

Methods

The clinical features, genetic data, and family information of eight index MTC patients with a germline RET^K666N variant were assessed.

Results

Four probands presented with MTC and extensive nodal metastasis, one with biopsy-confirmed distant metastasis. Two additional probands presented with localized disease. However, nodal status was not available. Of the final two probands, one had an incidental 1.5 m

SUBMITTER: Xu JY 

PROVIDER: S-EPMC5175438 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature