Calcitonin (CT) and RET Proto-Oncogene Measurement

Thyroid. 2003;13(1) 

In This Article

Introduction

Medullary carcinoma of the thyroid (MTC) arises from a malignant transformation of the parafollicular C cells of the thyroid and accounts for ~5-8% of all cases of thyroid cancer. Approximately 75% are sporadic in presentation and 25% are hereditary.[9,11,347] In a study of thyroid nodules, the prevalence of MTC is reported as 0.57%.[348] The behavior and management of MTC differs from that of well-differentiated follicular-derived thyroid carcinomas.[346] The inherited forms of MTC come under the heading of multiple endocrine neoplasia (MEN) types 2A and 2B. These are autosomal dominant inherited multiglandular syndromes with age-related penetrance and variable expression. Familial MTC (FMTC) is characterized by the occurrence of MTC without any associated endocrinopathy. In 1993, genetic mutations in the RET protooncogene were discovered.[349,350] The gene responsible for these diseases is known to be located on the chromosome sub-band 10q11.2. The phenotypic expressions of inherited MEN are summarized in Table 7 .

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