Department of Forensic Medicine, College of Medicine, The Catholic University of Korea, 222, Banpo-daero, Seocho-gu, 06591, Seoul, Republic of Korea.
Forensic Medicine Investigation Division, Seoul Institute, National Forensic Service, 139, Jiyang-ro, Yangcheon-gu, Seoul, 08036, Republic of Korea.
Forensic Sci Med Pathol. 2021 Dec;17(4):711-714. doi: 10.1007/s12024-021-00407-8. Epub 2021 Aug 12.
Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor of parafollicular C cells. The majority of MTCs occur sporadically, but about 30% of the cases are associated with multiple endocrine neoplasia type 2 (MEN2) syndrome or familial MTC. Generally, MTCs have no clinical manifestation, but infrequently the patients develop symptoms of hypercortisolism by secreting adrenocorticotropic hormone (ACTH) or corticotropin-releasing hormone (CRH). Although ectopic Cushing syndrome is only found in 0.7% of MTC patients, it can lead to fatal consequences if left untreated. Over 50 cases of MTC-related Cushing syndrome have been reported, and few autopsy cases exist in the literature. In those cases, the tumor cells are positive for calcitonin, but mostly display negative immunostaining for ACTH or CRH. The authors report an autopsy case of a 22-year-old woman who was found dead with no medical history whose cause of death was diabetic ketoacidosis associated with MTC, which showed poor calcitonin stainability.
甲状腺髓样癌（MTC）是一种罕见的滤泡旁 C 细胞神经内分泌肿瘤。大多数 MTC 是散发性的，但约 30%的病例与多发性内分泌腺瘤 2 型（MEN2）综合征或家族性 MTC 相关。一般来说，MTC 没有临床表现，但偶尔会因分泌促肾上腺皮质激素（ACTH）或促肾上腺皮质激素释放激素（CRH）而出现库欣综合征的症状。尽管异位库欣综合征仅见于 0.7%的 MTC 患者，但如果不治疗，可能会导致致命后果。已经报道了超过 50 例 MTC 相关库欣综合征病例，文献中很少有尸检病例。在这些病例中，肿瘤细胞对降钙素呈阳性，但对 ACTH 或 CRH 的免疫染色大多呈阴性。作者报告了一例 22 岁女性的尸检病例，该女性无既往病史，死因是与 MTC 相关的糖尿病酮症酸中毒，降钙素染色不佳。
