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Minerva Endocrinologica 2017 Sep 25

DOI: 10.23736/S0391-1977.17.02737-7


lingua: Inglese

Parathyroid carcinoma: a clinical and genetic perspective

Filomena CETANI 1 , Elena PARDI 2, Claudio MARCOCCI 1, 2

1 Endrocrine Unit 2, University Hospital of Pisa, Pisa, Italy; 2 Endocrine Unit 2, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy


Parathyroid carcinoma (PC) is a rare neoplasia difficult to diagnose preoperatively. It mainly occurs as a sporadic disease but also as part of familial PHPT. At variance with patients with the benign counterpart, the phenotype of these patients is characterized by a severe primary hyperparathyroidism (PHPT). The clinical features are mostly due to the effects of the excessive secretion of PTH by the functioning tumor and hypercalcemia rather than to the tumor burden. The prognosis is poor and unmanageable hypercalcemia accounts for death in the majority of cases. The best chance of cure is surgery, although persistent or recurrent disease occurs in about 50% of patients. Somatic loss-of-function mutations of CDC73 gene, encoding parafibromin, are the most frequent genetic alterations occurring in PCs. Mutations of the PRUNE2 gene, alterations of the PI3K/AKT/mTOR pathway and amplification of the CCND1 gene have been recently detected in PCs. Alteration of microRNA profile and methylation pattern have been identified in PCs. The recent studies have better defined the genomic landscape of PCs and represent major progress toward a full molecular characterization of this neoplasia and development of novel therapeutic options.

KEY WORDS: Primary hyperparathyroidism - Hyperparathyroidism-jaw tumor syndrome - Hypercalcemia - CDC73 - HRPT2 - PRUNE2 - PI3K - AKT - mTOR - Parathyroid tumorigenesis - Parafibromin - MicroRNA

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Publication History

Article first published online: September 25, 2017
Manuscript accepted: September 12, 2017
Manuscript received: September 8, 2017

Per citare questo articolo

Cetani F, Pardi E, Marcocci C. Parathyroid carcinoma: a clinical and genetic perspective. Minerva Endocrinol 2017 Sep 25. DOI: 10.23736/S0391-1977.17.02737-7

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