Alharbi Noran, Asa Sylvia L, Szybowska Marta, Kim Raymond H, Ezzat Shereen
Department of Internal Medicine and Endocrinology, Prince Mohammed bin Abdulaziz Hospital, Riyadh, Saudi Arabia.
Department of Medicine, University Health Network, University of Toronto, Toronto, ON, Canada.
Front Endocrinol (Lausanne). 2018 Nov 1;9:641. doi: 10.3389/fendo.2018.00641. eCollection 2018.
Parathyroid carcinoma is a rare endocrine malignancy that is typically difficult to diagnose at presentation. Here, we report a 63 year-old man who had symptomatic hypercalcemia. Investigations revealed a thyroid nodule and a lateral neck mass that was biopsied and diagnosed as "suspicious for a neuroendocrine neoplasm." He underwent total thyroidectomy with central and left neck node dissection. Histology and immunohistochemistry revealed an intrathyroidal angioinvasive parathyroid carcinoma with lymph node metastases. The tumor showed loss of parafibromin expression; germline testing revealed no pathogenic germline variants of , suggesting either a cryptic germline variant or a sporadic malignancy. Multiple pulmonary nodules consistent with metastatic disease explained persistent hypercalcemia and the patient was treated with denosumab as well as Sorafenib resulting in early regression of the lung nodules. This case illustrates an unusual parathyroid carcinoma with respect to anatomic presentation and the importance of complete pathological workup in securing the diagnosis. The management of these rare malignancies is discussed.
甲状旁腺癌是一种罕见的内分泌恶性肿瘤，通常在初诊时难以诊断。在此，我们报告一名63岁有症状性高钙血症的男性。检查发现一个甲状腺结节和一个颈部侧方肿物，对该肿物进行活检并诊断为“可疑神经内分泌肿瘤”。他接受了全甲状腺切除术及中央区和左侧颈部淋巴结清扫术。组织学和免疫组化显示为甲状腺内血管浸润性甲状旁腺癌伴淋巴结转移。肿瘤显示 parafibromin 表达缺失；胚系检测未发现 的致病胚系变异，提示可能存在隐匿性胚系变异或散发性恶性肿瘤。多个与转移性疾病相符的肺结节解释了持续性高钙血症，患者接受了地诺单抗和索拉非尼治疗，导致肺结节早期消退。该病例说明了甲状旁腺癌在解剖学表现方面的不寻常之处以及完整病理检查对确诊的重要性。还讨论了这些罕见恶性肿瘤的治疗。
