Tuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral teratoma. This previously unreported association between TSC and teratoma has broad implications for the pathophysiology of embryonic tumors and mechanisms underlying cellular differentiation.

中文翻译：

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与结节性硬化症和sa尾畸胎瘤相关的新型TSC1变体

结节性硬化症（TSC）是一种常染色体显性疾病，与大脑和其他重要器官中的肿瘤和畸形组织有关。我们报告了TSC1基因（c.434dup； p。Ser146Valfs * 8）的新型从头移码变体，该儿童患有TSC，最初表现为骨畸胎瘤。TSC和畸胎瘤之间的这种先前未报道的关联对胚胎肿瘤的病理生理学和潜在的细胞分化机制具有广泛的意义。