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Abstract：
Parathyroid carcinoma (PC) is a rare and aggressive endocrine malignancy with limited treatment options. Current treatments such as chemotherapy and radiotherapy have demonstrated limited efficacy. Here, we report the case of a male patient who presented with symptoms including polydipsia, polyuria, and joint pain. Further examination revealed a neck lump, hypercalcemia, and hyperparathyroidism, leading to a diagnosis of PC after en bloc surgery. Seven months later, the patient developed local recurrence and lung metastases, which were resected via left lateral neck dissection and thoracoscopic wedge resection. A 422-gene panel test revealed the presence of epidermal growth factor receptor (EGFR) p.L858R (c. T2573G) mutation, which may sensitize the EGFR-tyrosine kinase inhibitor response, and phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA) p.E545KV (c. G1633A) mutation. After multidisciplinary treatment discussions, the patient was treated with the multi-target tyrosine kinase inhibitor, anlotinib, resulting in survival benefits for 19 months. This case highlights the potential of targeted therapy in terms of long-term survival in patients with distant metastatic PC, as well as the importance of precision therapy guided by genome sequencing to identify potential therapeutic targets.
摘要：
甲状旁腺癌（PC）是一种罕见且侵袭性的内分泌恶性肿瘤，治疗选择有限。目前的治疗如化学疗法和放射疗法已经证明了有限的功效。这里,我们报告了一例男性患者，其症状包括多饮，多尿,关节疼痛。进一步检查发现颈部有肿块,高钙血症,和甲状旁腺功能亢进,导致整体手术后诊断为PC。七个月后,患者出现局部复发和肺转移,通过左外侧颈淋巴结清扫术和胸腔镜楔形切除术切除。422基因小组测试显示存在表皮生长因子受体（EGFR）p.L858R（c。T2573G)突变,这可能会使EGFR-酪氨酸激酶抑制剂反应敏感，和磷脂酰肌醇-4,5-二磷酸3-激酶，催化亚基α(PIK3CA)p.E545KV(c.G1633A）突变。经过多学科治疗讨论，患者接受了多靶点酪氨酸激酶抑制剂治疗，安洛替尼,导致19个月的生存获益。该病例强调了靶向治疗在远处转移性PC患者长期生存方面的潜力。以及以基因组测序为指导的精准治疗对确定潜在治疗靶点的重要性。
