Definition
The CDC73-associated (hyperparathyroid-jaw tumor) syndrome (HPT-JT; OMIM #145001) is a rare genetic disease caused by mutations in the CDC73 gene (and also HRPT-2). It results in a predisposition to primary hyperparathyroidism (PHPT) and parathyroid carcinomas, ossifying fibromas of the maxilla and/or mandible, and renal and uterine tumors.
Key Data
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Synonym | Familial primary hyperparathyroidism with multiple ossifying jaw fibromas and familial cystic parathyroid adenomatosis |
Gene | CDC73 |
Gene product | Parafibromin |
Function | Subunit of the PAF1 protein complex, which functions as a transcription factor |
Heredity | Autosomal dominant |
Prevalence | Unknown |
Genotype-phenotype correlation | Genotype-phenotype correlation Missense mutations tend to be associated with isolated familial hyperparathyroidism. No additional mutations have been identified. |
Penetrance | 80-90%, around 70% in women |
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Diagnosis
Clinical Diagnostic Criteria
Confirming the Diagnosis
Laboratory
Imaging
Genetic Diagnostics
The diagnosis of “HPT-JT” is confirmed with the detection of a heterozygous germline mutation of the CDC73 gene through sequence analysis or deletion/duplication analysis.
Differential Diagnoses
Clinical Presentation
Primary Hyperparathyroidism
Tumors in the Jaw
Renal Manifestations
Uterine Tumors
Therapeutic Considerations
Primary Hyperparathyroidism
Since it is usually the case that there is only one parathyroid adenoma causing the PHPT, a minimally invasive approach for removing the parathyroid tumor is preferred, which involves the following:
If a parathyroid carcinoma has been detected, en bloc resection and resection of the ipsilateral thyroid lobe should be performed.
Tumors in the Jaw
If possible, the tumor should be resected completely. There are no known medicinal approaches to date for tumors that have not been completely resected. Due to the risk of relapse, the patients should undergo aftercare checkups.
Renale Manifestationen
Bei zystischen Erkrankungen muss je nach Ausmaß und Erscheinungsbild eine individuelle Therapie festgelegt werden. Spezifische Richtlinien für HPT-JT-Patienten liegen nicht vor.
Uterine Tumors
With uterine tumors, an appropriate therapy should be selected based on extent and appearance. There are no specific guidelines for HPT-JT patients.
Surveillance Recommendations
Surveillance Recommendations
There are no standard surveillance recommendations for patients with a CDC73 mutation to date. Based on the current literature, the following is recommended:
Additional Information
Open Clinical Trials / Registries
There are currently no open clinical trials or registries for patients with CDC73-associated (hyperparathyroid-jaw tumor) syndrome that we can recommend to you for more information.
Support Groups
Unfortunately, we are as yet unaware of any existing support groups for patients with a CDC73-associated (hyperparathyroid-jaw tumor) syndrome. We will add new information as it becomes available.