Vignette #1: Von Hippel-Landau (vHL)
A 10-year-old Black female was noted to have blood pressures above the
97th percentile at multiple pediatrician visits. Hypertension workup
revealed retroperitoneal and right pelvic masses that were ultimately
confirmed as multifocal/synchronous secretory paragangliomas. Germline
and parental reflex testing for a hereditary syndrome reported a
heterozygous VUS in the VHL gene. Familial studies indicating this
variant is de novo , along with clinical and genetic findings,
resulted in variant reclassification to likely pathogenic and the
patient was diagnosed with vHL Disease. One year later, a new
pheochromocytoma was identified and resected, which may have been
delayed if not for the reclassified VUS and care per established
surveillance recommendations6.