Kodama Hitomi, Iihara Masatoshi, Okamoto Takahiro, Obara Takao
Department of Endocrine Surgery, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan.
Surg Today. 2007;37(10):884-7. doi: 10.1007/s00595-007-3484-x. Epub 2007 Sep 26.
Water-clear cell parathyroid adenoma is an exceedingly rare tumor, composed exclusively of tumor cells with abundant foamy cytoplasm. A combination of hyperparathyroidism and neurofibromatosis type 1 (NF1) is also a rare phenomenon. We report an 18-year-old woman with primary hyperparathyroidism caused by water-clear cell parathyroid adenoma in association with NF1. She had renal stones, hypercalcemia, and an elevated plasma level of intact parathyroid hormone. Physical examination revealed a palpable tumor in the right neck, and café-au-lait spots distributed over her entire body. An ultrasound examination showed an isoechoic mass in the right thyroid lobe. Thallium-technetium subtraction scintigraphy showed high thallium accumulation in the right thyroid lobe area. A surgical exploration revealed the palpable mass to be a parathyroid tumor. The pathological features were consistent with water-clear parathyroid adenoma. This is the first reported case of water-clear cell parathyroid adenoma associated with NF1.
水样透明细胞甲状旁腺腺瘤是一种极其罕见的肿瘤，仅由具有丰富泡沫状细胞质的肿瘤细胞组成。甲状旁腺功能亢进与1型神经纤维瘤病（NF1）并存也是一种罕见现象。我们报告了一名18岁女性，患有由水样透明细胞甲状旁腺腺瘤伴NF1引起的原发性甲状旁腺功能亢进。她有肾结石、高钙血症以及血浆中完整甲状旁腺激素水平升高。体格检查发现右颈部可触及肿物，全身有咖啡牛奶斑。超声检查显示右甲状腺叶有等回声团块。铊-锝减影闪烁显像显示右甲状腺叶区域铊摄取增高。手术探查发现可触及的肿物为甲状旁腺肿瘤。病理特征符合水样透明甲状旁腺腺瘤。这是首例报道的与NF1相关的水样透明细胞甲状旁腺腺瘤病例。
