Department of Internal Medicine, Centro Hospitalar Universitário do Porto, Portugal.
Department of Endocrinology, Centro Hospitalar Universitário do Porto, Portugal.
Ann Endocrinol (Paris). 2022 Aug;83(4):258-260. doi: 10.1016/j.ando.2022.04.015. Epub 2022 May 7.
Medullary thyroid cancer (MTC) is a primary neuroendocrine tumor derived from parafollicular cells or C-cells of the thyroid gland. It accounts for 1% to 10% of all thyroid cancers and is the second most aggressive thyroid cancer after undifferentiated thyroid carcinoma. Serum calcitonin and carcinoembryonic antigen (CEA) concentrations are widely used as biomarkers to facilitate diagnosis and follow-up. However, in rare cases, serum levels of calcitonin or CEA can be normal.
We report the case of a 64-year-old male patient with MTC who presented brain metastasis and normal preoperative serum levels of calcitonin and CEA. The patient underwent total thyroidectomy with central compartment lymph-node dissection, resection of the single brain metastasis, and adjuvant holo-cranial radiotherapy. At 30 months' follow-up, he maintained normal serum calcitonin and CEA levels with increased procalcitonin levels.
We describe a rare case of "calcitonin-negative" MTC with brain metastasis. The pathophysiology underlying normal serum levels of calcitonin in MTC is still not clearly understood. The lack of effective serum biomarkers for these patients makes diagnosis and treatment challenging.
甲状腺髓样癌(MTC)是一种源自甲状腺滤泡旁细胞或 C 细胞的原发性神经内分泌肿瘤。它占所有甲状腺癌的 1%至 10%,是除未分化甲状腺癌外最具侵袭性的甲状腺癌。降钙素和癌胚抗原(CEA)的血清浓度被广泛用作辅助诊断和随访的生物标志物。然而,在极少数情况下,降钙素或 CEA 的血清水平可能正常。
我们报告了一例 64 岁男性 MTC 患者,其出现脑转移且术前降钙素和 CEA 血清水平正常。患者接受了全甲状腺切除术及中央区淋巴结清扫术、单发脑转移灶切除术和辅助全脑放疗。30 个月随访时,患者降钙素和 CEA 血清水平正常,降钙素原水平升高。
我们描述了一例罕见的伴有脑转移的“降钙素阴性”MTC 病例。MTC 患者降钙素血清水平正常的病理生理学机制尚不清楚。这些患者缺乏有效的血清生物标志物,导致诊断和治疗具有挑战性。