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Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort
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  • Published on: 26 May 2024
    A patient with Wilms tumor and a new mutation in the REST gene
    • Astha S Khiani, Medical Student Texas Tech University Health Science Center
    • Other Contributors:
      • Julie A Beasley, Genetic Counselor
      • Matthew D Timberlake, Associate Professor of Urology and Pediatrics
      • Mohamad M Al-Rahawan, Professor of Pediatric Hematology Oncology

    A patient with Wilms tumor and a new mutation in the REST gene

    Astha Khiani, Julie Beasley, Matthew Timberlake, Mohamad M Al-Rahawan

    Stoltze et al.1 described a nationwide germline study of children with Wilms Tumor. They highlight patients that harbored pathogenic germline variants in WT risk genes including FBXW7, WT1 and REST. The majority of the females with WT in their cohort had an underlying (epi)genetic condition. There was one patient who had a family history of WT along with a mutation in the REST gene (patient #1). The study found more than 100 variants of unknown significance and 13 in genes from 10 patients previously linked to WT predisposition, including a c.422C>G mutation in the REST gene (patient #24). Germline alterations in REST are associated with an increased risk of distinct tumor types/cancer risk along with other possible phenotypic presentations 1 . Another germline study found that 8% of WT patients had an identifiable pathogenic variant in a cancer predisposing gene and an even higher percentage (30%) for cases with family history 4.

    We report a toddler with a personal and family history of WT. She harbors a variant in the REST gene that has not yet been documented in literature.

    Our patient, 4-year-old female, was delivered at 35 weeks of gestation weighting 2,551 grams (50th percentile for gestational age). She had urogenital anomalies and neurodevelopmental disorders. SNP-Microarray identified a 17q12 deletion...

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    Conflict of Interest:
    None declared.