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Parathyroid carcinoma: a clinical and genetic perspective
- Source :
- Minerva endocrinologica. 43(2)
- Publication Year :
- 2017
-
Abstract
- 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.
- Subjects :
- Hyperparathyroidism
business.industry
Endocrinology, Diabetes and Metabolism
Parafibromin
030209 endocrinology & metabolism
Functioning tumor
PRUNE2 Gene
medicine.disease
Hyperparathyroidism, Primary
Prognosis
Phenotype
03 medical and health sciences
0302 clinical medicine
Endocrinology
Parathyroid Neoplasms
Parathyroid carcinoma
030220 oncology & carcinogenesis
Internal Medicine
Cancer research
medicine
Hypercalcemia
Humans
business
PI3K/AKT/mTOR pathway
Primary hyperparathyroidism
Subjects
Details
- ISSN :
- 18271634
- Volume :
- 43
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Minerva endocrinologica
- Accession number :
- edsair.doi.dedup.....8986e98a951168c70f0eadc5bf602966