Objective To compare the clinical features and surgical effect between ectopic and orthotopic parathyroid lesions. Methods The clinical data of 136 patients with parathyroid lesions who had undergone parathyroidectomy between May 2010 and May 2017 were retrospectively analyzed. Results The ectopic parathyroid location was detected in 20 patients (14.7%) of the 136 patients with parathyroid lesions. Of the 20 patients, prevalence of superior mediastinal ectopic lesions accounted for 30.0% (6/20), prevalence of thyrothymic ligament accounted for 20.0% (4/20), prevalence of intrathymic accounted for 15.0% (3/20), prevalence of tracheoesophageal groove accounted for 25.0% (5/20), prevalence of submandibular accounted for 5.0% (1/20), prevalence of carotid sheath accounted for 5.0% (1/20), respectively. Patients with ectopic lesions had significantly higher level of serum parathyroid hormone (PTH) and alkaline phosphatase (AKP) than patients with orthotopic parathyroid lesions (P≤0.05). In addition, osteitis fibrosa cystica of metabolic bone disease was significantly more frequent in patients with ectopic parathyroid lesions than those with orthotopic parathyroid lesions (P=0.04). Preoperative ultrasonography had a sensitivity of 50.0% (10/20) for ectopic lesions and 90.1% (100/111) for orthotopic lesions. Preoperative 99Tcm methoxyisobutylisonitrile (99Tcm-MIBI) had a sensitivity of 100% (19/19）for ectopic lesions and 95.3% (101/106) for orthotopic lesions. Preoperative CT had a sensitivity of 81.3% (13/14) for ectopic lesions and 93.6% (102/109) for orthotopic lesions. Preoperative combination examination had a sensitivity of 100% (20/20) for ectopic lesions and 99.1% (108/109) for orthotopic lesions. Of the 20 patients with ectopic leisions, 17 patients (85.0%) had undergone 1 time of operation, 2 patients (10.0%) had undergone twice operations, 1 patient (5.0%) had undergone trice operations. The onset of hypocalcemia happened in 13 patients (65.0%) after operation. Of 116 patients with orthotopic leisions, only 1 patient had twice operations, the onset of hypocalcemia happened in 74 patients (63.8%) after operation. The reoperation rate of orthotopic leisions was lower than that of patients with ectopic leisions (P=0.01), but there was no significant difference on the incidence of hypocalcemia (P=0.92). Excessive bleeding and recurrent laryngeal nerve injury didn’t happen after all operations. Of 136 patients, 111 patients had followed-up, among which 17 patients with ectopic leisions and 94 patients with orthotopic leisions. During the followed-up period, there were no recurrence happened. Conclusions The ectopic parathyroid lesions are associated with higher serum PTH and AKP levels and more frequent metabolic bone disease in comparison with the orthotopic parathyroid lesions, as well as high reoperation rate. Combined examination, including cervical ultrasonography, 99Tcm-MIBI, and cervical enhanced CT are needed for preoperative location. Parathyroid lesions resection is the main surgical approach, and patients with parathyroid lesions are prone to be onset of hypocalcemia.
ObjectiveTo summarize the clinical and genetic characteristics of parathyroid disease associated with CDC73 gene mutation.MethodsThe related literatures on CDC73 gene mutation and parathyroid diseases were collected and reviewed.ResultsCDC73 gene is a tumor suppressor gene which encodes parafibromin protein. CDC73 gene mutation may lead to the decrease or absence of expression of parafibromin protein. CDC73 gene mutation was directly associated with hyperthyroid-jaw tumor syndrome and 15% to 20% patients were associated with parathyroid carcinoma. Their first-degree relatives may also carry CDC73 gene mutation. Partial sporadic parathyroid carcinoma was associated with CDC73 mutation.ConclusionsCDC73 gene mutation is associated with various kinds of parathyroid diseases. Detection of CDC73 gene sequences and immunohistochemical analysis of parafibromin protein may be applied in the diagnosis and improve the prognosis of parathyroid diseases.