Article
De novo SDHB gene mutation in a family with extra-adrenal paraganglioma.
Familial cancer - 1 Jul 2020
Mauer Caitlin B, Reys Brian, Wickiser Jonathan
Abstract excerpt
A 14-year-old male presented with abdominal pain. Imaging illustrated a left-sided adrenal mass; he underwent a left nephrectomy, confirming an extra-adrenal PGL. Germline genetic testing revealed a heterozygous, likely pathogenic mutation in the SDHB gene. The patient's family subsequently underwent genetic testing; his mother and sister were both positive for the familial SDHB mutation. Cascade testing for the...
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