Ohyama T, Sato M, Murao K, Kittaka K, Namihira H, Matsubara S, Imachi H, Yamauchi K, Takahara J
First Department of Internal Medicine, Kagawa Medical University, Japan.
Endocrine. 2001 Jul;15(2):143-6. doi: 10.1385/ENDO:15:2:143.
We report the case of a 24-yr-old man with a typical phenotype of multiple endocrine neoplasia type 2B (MEN 2B). The patient had previously undergone minor surgery to remove multiple tumors on the lip, but he had no further examinations. MEN 2B was suspected owing to characteristic multiple ganglioneuromatosis when the patient presented with a goiter associated with high levels of plasma calcitonin and CEA. Aspiration biopsy cytology revealed medullary thyroid carcinoma (MTC), and abdominal computed tomography and nuclear scanning with metaiodobenzylguanidine revealed bilateral adrenomedullary tumors. Adrenomedullary function tests showed high levels of serum and urinary fractionated catecholamines, and genetic analysis showed a point mutation in the codon 918 (M918T) of the RET gene. The patient was diagnosed with MEN 2B and underwent right adrenalectomy and total thyroidectomy. No distant metastasis of the MTC was noted although MEN 2B had remained undiagnosed since the ganglioneuromatosis was first noticed. MEN 2B is a rare hereditary disorder, but the occurrence of characteristic ganglioneuromatosis was quite helpful in making the diagnosis.
我们报告了一例24岁男性患者，具有典型的2B型多发性内分泌腺瘤病（MEN 2B）表型。该患者此前曾接受过小手术以切除唇部的多个肿瘤，但未进一步检查。当患者出现伴有血浆降钙素和癌胚抗原水平升高的甲状腺肿时，由于特征性的多发神经节瘤病而怀疑为MEN 2B。细针穿刺活检细胞学检查显示为甲状腺髓样癌（MTC），腹部计算机断层扫描和间碘苄胍核扫描显示双侧肾上腺髓质肿瘤。肾上腺髓质功能测试显示血清和尿中儿茶酚胺水平升高，基因分析显示RET基因第918密码子（M918T）存在点突变。该患者被诊断为MEN 2B，并接受了右肾上腺切除术和全甲状腺切除术。尽管自首次发现神经节瘤病以来MEN 2B一直未被诊断，但未发现MTC的远处转移。MEN 2B是一种罕见的遗传性疾病，但特征性神经节瘤病的出现对诊断非常有帮助。
