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Costa-Guda. J Transl Genet Genom 2018;2:5 Journal of Translational
DOI: 10.20517/jtgg.2018.08 Genetics and Genomics

Review Open Access

Parathyroid carcinoma

Jessica Costa-Guda 1,2

1 Center for Regenerative Medicine and Skeletal Development, University of Connecticut School of Dental Medicine, Farmington,
CT 06030, USA.
2 Center for Molecular Oncology, University of Connecticut School of Medicine, Farmington, CT 06030, USA.
Correspondence to: Dr. Jessica Costa-Guda, Center for Molecular Oncology, University of Connecticut School of Medicine, 263
Farmington Ave, Farmington, CT 06030-3101, USA. E-mail: costa@uchc.edu

How to cite this article: Costa-Guda J. Parathyroid carcinoma. J Transl Genet Genom 2018;2:5.
http://dx.doi.org/10.20517/jtgg.2018.08

Received: 30 Apr 2018 First Decision: 8 May 2018 Revised: 15 May 2018 Accepted: 16 May 2018 Published: 22 May 2018
Science Editor: David N. Cooper Copy Editor: Jun-Yao Li Production Editor: Cai-Hong Wang

Abstract
Parathyroid carcinoma is a rare but clinically-aggressive tumor. While most cases are sporadic, parathyroid cancer is
overrepresented in hyperparathyroidism-jaw tumor syndrome, or rarely other heritable syndromes. Evidence suggests
that sporadic parathyroid carcinomas rarely, if ever, evolve through an identifiable benign tumor intermediate. A few
genes have been directly implicated in the pathogenesis of sporadic parathyroid cancer; somatic (and less common
germline) mutations in the CDC73 tumor suppressor gene are the most frequent finding and the only firmly established
molecular drivers of parathyroid cancer. Alterations in other important human cancer genes, including CCND1/cyclin D1,
PIK3CA , MTOR and PRUNE2 have also been described in parathyroid cancer, however their abilities to drive malignant
parathyroid tumorigenesis remains to be demonstrated experimentally.

Keywords: CDC73, cyclin D1, PIK3CA , hyperparathyroidism-jaw tumor syndrome

INTRODUCTION
Parathyroid cancer is a rare, but aggressive, cause of primary hyperparathyroidism, accounting for less than
1% of cases of this relatively common endocrine disorder. Parathyroid carcinoma may be suspected, prior to
surgery, on the basis of clinical features. Parathyroid cancer presents equally in men and women, in contrast
to the 3.5:1 female-to-male ratio seen with benign parathyroid tumors. Serum calcium levels are often
markedly elevated in parathyroid cancer, with patients exhibiting renal and/or bone symptoms including
nephrolithiasis, osteitis fibrosa cystica, osteoporosis and fracture. Palpable neck mass is common. While
the majority of patients with parathyroid carcinoma are symptomatic, rare non-functioning parathyroid
carcinomas have been reported. Histopathologic diagnosis of parathyroid cancer can be difficult and

© The Author(s) 2018. Open Access This article is licensed under a Creative Commons Attribution 4.0
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