Case Report: Two clinical cases of Wilms tumor comorbid to gingival fibromatosis in young children with constitutionally mutated REST .

Frontiers in oncology(2023)

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摘要
Here, we describe two clinical cases of WT in nonrelated young children with germline-inactivating variants identified by next-generation sequencing. Both patients present with familial gingival fibromatosis, regarded as clinically useful comorbidity indicative of the tumor predisposition syndrome. The two cases illustrate Wilms tumor-gingival fibromatosis comorbidity in carriers of germline-inactivated alleles previously identified as a predisposition factor for both conditions.
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关键词
Wilm's tumor, REST (RE-1 silencing transcription factor), pediatric oncology, gingival fibromatosis, next-generation sequence (NGS)
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