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Medullary thyroid carcinoma (MTC) is accounting for 5 8% of all thyroid cancers and arises from calcitonin producing parafollicular C cells of the thyroid gland. Mainly MTC is sporadic in nature, but in 20 30% of cases it is present in an autosomal dominant inherited pattern with defined phenotype referred as multiple endocrine neoplasia type 2 (MEN 2) and familial medullary thyroid carcinoma (FMTC). The identification of missense germline mutations in the RET proto-oncogene between 1993 and 1998 as the cause of MEN 2 and FMTC ushered in the molecular age. Specific mutations in the RET gene encoding a transmembrane tyrosine kinase result in "gain-of-function" of the receptor with definite changes in downstream signal transduction pathways. Intriguingly, examination of the mutated codons led to the growing recognition of a striking genotype–phenotype correlation between the transforming activity inherent in these mutations and disease onset and aggressiveness, implicating that manifestation and clinical progression is conditioned by the type of mutation. Detection of the mutant alleles in kindred members predicts disease inheritance and provides the basis for prophylactic thyroidectomy in children. This seminal discovery, enabling predictive testing, paved the way for an evidence-based practice of clinical cancer genetics. In case of novel RET mutations it is exceedingly important to clarify whether it represents a harmless polymorphism or a causative pathogenic mutation. For this purpose, we established a molecular diagnosis program that, in conjunction with clinical data, allows individualized risk stratification for patients.

Molecular Diagnostics in Treatment of Medullary Thyroid Carcinoma