ABSTRACT
Background and aim of the study
We looked for mutations of the HRPT2 gene, which encodes the parafibromin protein, and for its clinical impact in sporadic parathyroid carcinoma and atypical parathyroid adenoma because germ-line inactivating HRPT2 mutations have been found in a type of familial hyperparathyroidism - hyperparathyroidism-jaw tumor (HPT-JT) syndrome – that carries an increased risk of aggressive parathyroid cancer.
Methods
We investigated every patient with a diagnosis of parathyroid carcinoma or atypical parathyroid adenoma, who had undergone surgery by one surgeon from 1975 to May 2012 at our Department. Genetic studies were performed from genomic DNA isolated from peripheral blood leukocytes and parathyroid tissue. Preoperative (symptoms, biochemical analysis, imaging), operative (surgery, histological analysis) and post-operative (follow-up) data have been collected in a database and statistically processed. The genetic analysis results have been correlated with the clinical course.
Results
The study involved 70 patients (group 1: 39 carcinomas, group 2: 31 atypical adenoma). Until now, we investigated 18 patients with parathyroid carcinoma and 8 patients with atypical adenoma. We detected HRPT2 mutation in two patients with carcinoma that died for rapid tumor progression.
Conclusions
HRPT2 status would be a piece of information to add to the conventional clinical parameters: it correlates with a more aggressive disease. The diagnostic utility of the HRPT2 screening might provide grounds for more aggressive follow-up and family screening. This test will be especially helpful if it directs us to an aggressive surgical approach because that is ultimately the only cure for this devastating disease
