Medullary Thyroid Carcinoma

Apart from the RET protooncogene (RET) point mutation of chromosome 10, no other genes have been found to be involved in the original growth of medullary thyroid carcinomas. Germline RET mutations have been identified in about 98% of patients with familial medullary thyroid carcinoma, and somatic RET mutations have been frequently detected in sporadic medullary thyroid carcinomas.51 In sporadic medullary thyroid carcinomas, the RET gene is mutated in codon 918, where a methionine is substituted to a threonine (M918T).

Chromosomal aberrations have been detected by CGH in approximately 50% to 60% of the patients with medullary thyroid carcinoma.10 51 The number of chromosomal aberrations in medullary thyroid carcinoma appears to be lower than in other thyroid carcinomas that arise from thyroid follicular cells.10 Frisk and coworkers51 reported that chromosomal regions 19q, 19p, 13q, and llq may be involved in medullary thyroid carcinogenesis but that medullary thyroid carcinoma is a relatively genetically stable tumor. Overall, the results of CGH investigations in medullary thyroid carcinomas have suggested a normal modal number of chromosomes with a marked tendency to random hypodiploidy.52 Hypodiploidy has also been found in medullary thyroid carcinoma cell lines.53

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