Takagi Junko, Otake Kazuo, Morishita Munehiko, Kato Harumichi, Nakao Naoki, Yoshikawa Kazuhiro, Ikeda Hiroshi, Hirooka Yoshifumi, Hattori Yoshinobu, Larsson Catharina, Nogimori Tsuyoshi
Department of Laboratory Medicine, Aichi Medical University School of Medicine, Nagakute, Aichi.
Intern Med. 2006;45(2):81-6. doi: 10.2169/internalmedicine.45.1427. Epub 2006 Feb 15.
Thymic carcinoid in multiple endocrine neoplasia type 1 (MEN 1) is previously reported as a non-ACTH producing tumor. The present case is a 39-year-old man with mortal outcome from thymic carcinoid and Cushing's syndrome with high plasma ACTH. The symptom was first observed at age 29 and was relieved after extended thymectomy, with reduction of ACTH level. The tumor was positive for ACTH, Grimelius silver staining and Chromogranin A. The finding of primary hyperparathyroidism, pituitary adenoma, and a novel germline nonsense mutation (W423X) established the diagnosis of MEN 1. Cushing's syndrome due to ACTH producing thymic carcinoid should be also considered as one phenotype of the MEN 1 spectrum.
1型多发性内分泌腺瘤病（MEN 1）中的胸腺类癌以前被报道为非促肾上腺皮质激素（ACTH）分泌性肿瘤。本病例为一名39岁男性，因胸腺类癌和高血浆ACTH水平的库欣综合征死亡。症状首次出现于29岁，扩大胸腺切除术后症状缓解，ACTH水平降低。肿瘤ACTH、嗜银染色（Grimelius silver staining）和嗜铬粒蛋白A呈阳性。原发性甲状旁腺功能亢进、垂体腺瘤以及新发现的种系无义突变（W423X）确诊为MEN 1。由分泌ACTH的胸腺类癌引起的库欣综合征也应被视为MEN 1谱系的一种表型。
