两种不同类型的婴儿肾细胞癌与结节性硬化症相关。
Two different types of infantile renal cell carcinomas associated with tuberous sclerosis.
机构信息
Department of Pediatric Surgery, Yamanashi Prefectural Central Hospital, Kofu 400-0027, Japan.
出版信息
J Pediatr Surg. 2011 Oct;46(10):E37-41. doi: 10.1016/j.jpedsurg.2011.06.035.
Renal cell carcinoma (RCC) associated with tuberous sclerosis (TSC) has been reported in adult patients; however, this association is rare in children. We have encountered 2 different types of RCCs in infants who developed TSC later in childhood. The pathologic diagnoses were papillary RCC in one infant and a clear cell-type RCC in the other. Gene analysis showed that both the patients had a mutation in TSC2 gene on chromosome 16.
肾细胞癌（RCC）与结节性硬化症（TSC）相关在成年患者中已有报道；然而，这种关联在儿童中很少见。我们在后来患有 TSC 的儿童中遇到了 2 种不同类型的 RCC。病理诊断为 1 例婴儿的乳头状 RCC 和另 1 例透明细胞型 RCC。基因分析表明，这 2 名患者在 16 号染色体上的 TSC2 基因均存在突变。
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