Abstract
ObjectiveIt is widely recognized that the diagnosis of parathyroid carcinoma (PC) is often difficult because of the overlap of characteristics between malignant and benign parathyroid tumors, especially at an early stage. Based on the identification of tumor suppressor gene HRPT2/CDC73 and its association with hereditary and sporadic PC, screening of gene mutations and detection of parafibromin immunoreactivity have been suggested as diagnostic instruments of PC in Whites. There is little information about HRPT2/CDC73 mutations and its corresponding protein expression in patients with sporadic PC in Chinese population, and the long-term follow-up data is scarce.MethodsParaffin-embedded tissues were obtained from 13 patients with PC, 13 patients with parathyroid adenoma (PA) and 7 patients with parathyroid hyperplasia(PH), and 6 normal parathyroid (NP) tissues as controls. Peripheral blood from 11 patients with PC was collected. PCR products using Genomic DNA extracted from tumor tissues or blood as template was sequenced for HRPT2/CDC73 gene. Expression of parafibromin in tumor tissues was evaluated by immunohistochemical analysis.ResultsSix mutations in 6 of 13 patients with PC were identified, with three being novel. Four of them were germ-line mutations. Patients with mutations were susceptible to recurrence of the PC. Complete (8/13, 61.5%) or partial (5/13, 38.5%) loss of parafibromin expression was observed in PC tissues. All of tissue samples from normal parathyroid or benign parathyroid tumors displayed positive immunostaining of parafibromin except one adenoma.ConclusionsThe present study supplies information on the mutations and protein expression of HRPT2/CDC73 gene and phenotypes of parathyroid carcinoma in Chinese population. And the expanded mutation database of this gene may benefit patients in the diagnosis and treatment of this disease.
Highlights
Sporadic primary hyperparathyroidism (PHPT) is mostly caused by parathyroid adenoma in approximately 80–85% of cases or parathyroid hyperplasia in 10–15% of cases
Paraffin-embedded tissues from 13 patients with sporadic parathyroid adenoma (PA), 7 patients with sporadic parathyroid hyperplasia (PH) during the same period were used as controls
The kidney cystic lesions were observed in only 2 patients detected by abdominal ultrasound or CT scanning and only 1 patient was suspected to have jaw tumor suggested by CT scanning
Summary
Sporadic primary hyperparathyroidism (PHPT) is mostly caused by parathyroid adenoma in approximately 80–85% of cases or parathyroid hyperplasia in 10–15% of cases. Parathyroid carcinoma (PC) is the uncommon but potentially life-threatening type, which accounts for less than 1% of PHPT cases in most western countries and about 5–7% of the PHPT cases in China, respectively [1,2,3]. The distinction between parathyroid carcinoma and adenoma still often presents a diagnostic challenge at the early stage of PC in the absence of obvious metastasis [6,7]. It is widely recognized that making the diagnosis of PC is often difficult because of the overlap of characteristics between PC and parathyroid adenoma (PA), especially at an early stage
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