J.Jpn. Surg. Soc.. 119(2): 150-156, 2018

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Feature topic

ENDOCRINE SURGERY

In general surgical practice, endocrine surgeons are the most familiar with germline genetic diagnosis. The main reason for this is that RET gene diagnosis of medullary thyroid carcinoma is eligible for coverage under the Japanese national health insurance. RET germline mutations are found in more than 98％ of families with multiple endocrine neoplasia type 2, and the lifetime penetrance of this syndrome is nearly 100％. Germline mutations are concentrated on specific codons of the RET gene, and the genotype-phenotype correlation is clear. In addition, the extent of thyroid gland resection can be determined based on the results of genetic diagnosis, with the option of prophylactic total thyroidectomy for the children of RET gene carriers. For the above reasons, RET gene diagnosis is the ideal among various genetic diagnostic methods for familial tumors. In other genetic diseases in the field of endocrine surgery, such as multiple endocrine neoplasia type 1, thyroid cancer associated with familial adenomatous polyposis, and Cowden syndrome, genetic diagnoses can be powerful decision-making tools for determining the extent of resection of the thyroid or parathyroid glands. Knowledge of genetic testing is now indispensable in the field of endocrine surgery.

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