Compared to individuals with sporadic PHPT, individuals with a CDC73 gene pathogenic variant have an increased risk of the following:
- larger parathyroid tumours which demonstrate distinctive morphological features
- synchronous or metachronous multiglandular disease
- local or distant recurrence
- postoperative hungry bones syndrome
These factors should be considered when planning the surgical and post-surgical management of individuals with a CDC73 gene pathogenic variant and PHPT.
Biopsy of suspicious neck lesions in these patients is discouraged due to risk of seeding parathyroid cancer cells, the difficulty it creates in interpreting the pathology of excision specimen and the limited information it provides.r
Rare cases of non-functioning parathyroid carcinoma have been reported in individuals with a CDC73 gene pathogenic variant. Some authors recommend consideration of periodic neck ultrasound in addition to biochemical screening. However, the age of commencement and optimal interval of imaging has not been defined.
The youngest age of PHPT in HPT-JT is reported to be 7 years, while the youngest age of parathyroid carcinoma is reported to be 15 years.r
Ossifying fibroma/cemento-ossifying fibroma of the maxilla or mandible
There is currently insufficient available data to indicate whether there is an age at which jaw imaging can be ceased in individuals who have had serial normal imaging.
The lifetime risk of developing uterine tumours in females with a CDC73 pathogenic variant is approximately 57%.r The incidence of uterine leiomyomas in females with a CDC73 pathogenic variant is similar to that of the general population.r
While malignant uterine tumours have been reported in females with a CDC73 pathogenic variant, they appear to be rare. There is no evidence to support routine surveillance for uterine tumours. Females with a CDC73 pathogenic variant should be aware of the risk of uterine tumours and report any new symptoms to their General Practitioner. Further investigation should be undertaken if clinically indicated.