Familial medullary thyroid carcinoma

• 出版年: Surgical Chronicles
• 第一著者: 2-s2.0-85016428827
• フォーマット: 論文
• 言語: English
• 出版事項: Surgical Society of Northern Greece 2016
• オンライン･アクセス: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85016428827&partnerID=40&md5=42d45048590b4007a1cf2525f4a76646

Medullary thyroid carcinoma (MTC) is a rare C-cell calcitonin-producing tumour, representing approximately 5% of all thyroid tumours. It occurs in sporadic and hereditary form. The hereditary form of MTC accounts for 20-25% of cases. Mutation of RET proto-oncogene is well known cause of this entity. The pure FMTC is very rare. There were only three documented families that fulfil the criteria of pure FMTC in the literature. Most of the kindred of familial MTC are later associated with Multiple Endocrine Neoplasia (MEN) 2A or 2B. Here we present a 26 year-old patient with bilateral neck swelling, where fine needle aspiration (FNA) cytology of the nodule showed medullary thyroid carcinoma. Hence the siblings were investigated for familial MTC. His elder brother, a 30 year-old man also had anterior neck swelling and FNA cytology of the nodule confirmed of MTC. Their sister, a 28 year-old female had a screening ultrasound of the neck showed three suspicious thyroid nodules. Ultrasound guided biopsy of the lesions were suggestive of MTC. All of them underwent total thyroidectomy with bilateral and central lymph node dissection. Post-operatively, the serum calcitonin level of all these patients were still elevated and serial imaging confirmed of recurrence disease. In all our patients, clinical and biochemical screening for MEN2 were negative and they refused to have genetic testing for RET proto-oncogenes. In summary, screening for MTC and early treatment is essential as the inherited MTC is normally more aggressive than the sporadic. Vigilant surveillance with calcitonin and imaging is important to detect early recurrence as well as to detect any occurrence of phaeochromocytoma.