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Endocr Pathol. 2009 Summer;20(2):141-4. doi: 10.1007/s12022-009-9077-z.

Medullary thyroid carcinoma and tuberous sclerosis.

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Department of Experimental Medicine, Sapienza University of Rome, V.le Regina Elena, 324, Rome, 00161, Italy.


Medullary thyroid carcinoma (MTC) is a rare tumor and accounts for 5-10% of thyroid cancers. Tuberous sclerosis (TS) is a complex autosomal dominant neurocutaneous syndrome. In literature, a few endocrine neoplasias have been reported in association with TS, but never a case of TS associated with sporadic MTC. We describe a unique case, which has never been reported previously, of MTC associated with TS. The MTC up to today has been associated with other endocrine neoplasia, and TS increases risk of neoplasia in various organs. The case reported shows one more circumstance and suggests thyroid screening in patients with diagnosis of TS.

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