We present the clinical and molecular studies of a family with Pendred syndrome, in which one affected individual developed follicular thyroid cancer. Two siblings with classic Pendred syndrome triad were operated on because of enormous multinodular goiter. Histopathology showed a follicular thyroid cancer in the male and a multinodular goiter in the female. PDS gene analysis revealed G-to-A transition in the splice donor site of intron 8 (IVS8 + 1G > A/c.1001 + 1G > A). Careful surveillance is needed in all cases of thyroid nodules in patients with Pendred syndrome, due to the high risk of malignancy.

我们介绍了 Pendred 综合征家族的临床和分子研究，其中一个受影响的个体患上了滤泡性甲状腺癌。由于巨大的多结节性甲状腺肿，两个患有经典 Pendred 综合征三联征的兄弟姐妹接受了手术。组织病理学显示男性为滤泡性甲状腺癌，女性为多结节性甲状腺肿。PDS 基因分析揭示了内含子 8 的剪接供体位点的 G 到 A 转变（IVS8  +  1G  >  A/c.1001  +  1G  >  A）。由于恶性肿瘤的高风险，Pendred 综合征患者的所有甲状腺结节病例都需要仔细监测。