Review Article

Hyperparathyroidism-jaw tumor syndrome: A rare disorder with significant clinical features

Dimitrios Kourkouliotis

• Postgraduate Program Metabolic Bone Diseases, School of Medicine, National and Kapodistrian University of Athens, Greece

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Keywords: CDC73 gene, Genetic testing, Hyperparathyroidism-jaw tumor syndrome, Jaw tumors, Parathyroid carcinoma

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Abstract

Hyperparathyroidism-jaw tumor syndrome is a rare disorder that is inherited in an autosomal dominant manner and predisposes to the development of parathyroid adenomas and carcinoma, ossifying jaw tumors, uterine neoplasms and renal cysts. It is caused by inactivating mutations in the gene CDC73 that it was first identified in 2002. The purpose of this narrative review is to highlight the genetic background of the syndrome and its clinical manifestations as well as to emphasize the significance of genetic testing in diagnosis from an early age. The clinical and familial features of the syndrome were collected by searching on electronic database PubMed/Medline using the MeSH terms “Hyperparathyroidism-jaw tumor syndrome” or “HPT-JT syndrome”. 246 articles were returned of which, 44 were reviews and 59 case reports. Two nationwide retrospective studies were found. This article is focused mainly on data from the last decade, as there seems to be a better understanding of the genetic basis due to the evolution of DNA sequencing techniques. To date, there have been over 200 patients reported in approximately 50 families carrying a germline mutation of CDC73 gene, suggesting that there should be an augmented awareness of identifying both patients and their relatives.

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