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Title of Journal: J Endocrinol Invest

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Abbravation: Journal of Endocrinological Investigation

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Springer International Publishing

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DOI

10.1007/s40267-016-0301-x

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1720-8386

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Update on parathyroid carcinoma

Authors: F Cetani E Pardi C Marcocci
Publish Date: 2016/03/21
Volume: 39, Issue: 6, Pages: 595-606
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Abstract

Parathyroid carcinoma PC is a rare endocrine disorder commonly causing severe primary hyperparathyroidism PHPT PC is mainly a sporadic disease but it may occur in familial PHPT Patients with PC usually present markedly elevated serum calcium and PTH The clinical features are mostly due to the effects of the excessive secretion of PTH rather than to the spread of tumor At times the diagnosis can be difficultThe aim of this work is to review the available data on PC and focus its molecular pathogenesis and the clinical utility of CDC73 genetic testing and immunostaining of its product parafibromin The pathological diagnosis of PC is restricted to lesions showing unequivocal growth into adjacent tissues or metastasis Inactivating mutations of the cell division cycle 73 CDC73 gene have been identified in up to 70  of apparently sporadic PC and in onethird are germline Loss of parafibromin immunostaining has been shown in most PC The association of CDC73 mutations and loss of parafibromin predicts a worse clinical outcome and a lower overall 5 and 10year survival

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