Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.
Am J Surg Pathol. 2018 May;42(5):587-594. doi: 10.1097/PAS.0000000000000975.
The initial description of Carney complex (CNC) in 1985 included myxomas, spotty skin pigmentation, and endocrine overactivity (of the adrenal, the pituitary, and the testis). In 1997, thyroid neoplasms were found in 3 patients with CNC and involvement of the gland in the syndrome was apparent. Herein, we describe the clinical, pathologic, and follow-up findings in 26 patients with CNC and a disorder of the thyroid gland. The patients were predominantly middle-aged women with an asymptomatic thyroid mass. Four patients had hyperthyroidism, which was caused by follicular hyperplasia in 2 patients and by toxic adenoma in 2 others. Pathologic findings included benign lesions (follicular hyperplasia, nodular hyperplasia, and follicular adenoma) in 16 patients and carcinomas (follicular or papillary) in 10 patients. The follicular carcinomas had unusual features, multifocality, bilaterality, and lymph node metastasis. The tumor was fatal in 3 of 4 patients with a tumor ≥3 cm in diameter. One patient had an unusual multifocal microscopic follicular hyperplasia. Detection and treatment of the thyroid neoplasms in patients with CNC requires long-term follow-up of patients with the syndrome.
1985 年,Carney 复合征(CNC)的初始描述包括黏液瘤、斑片状皮肤色素沉着和内分泌过度活跃(肾上腺、垂体和睾丸)。1997 年,在 3 名 CNC 患者中发现了甲状腺肿瘤,该综合征中腺体的受累情况明显。在此,我们描述了 26 名 CNC 患者和甲状腺疾病患者的临床、病理和随访结果。这些患者主要为中年女性,有无症状的甲状腺肿块。4 名患者患有甲状腺功能亢进症,其中 2 例是由滤泡增生引起的,另外 2 例是由毒性腺瘤引起的。病理发现包括 16 例良性病变(滤泡增生、结节性增生和滤泡性腺瘤)和 10 例癌(滤泡状或乳头状)。滤泡状癌具有不典型特征,包括多灶性、双侧性和淋巴结转移。在肿瘤直径≥3cm 的 4 名患者中,有 3 名患者肿瘤致死。1 名患者存在不典型的多灶性微小滤泡增生。在 CNC 患者中检测和治疗甲状腺肿瘤需要对该综合征患者进行长期随访。