Abstract
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by
heterozygous germline mutations in the fumarate hydratase(FH ) gene and is associated with increased susceptibility to
cutaneous leiomyomas, uterine leiomyomas, and renal cell carcinoma
(RCC). This report describes a seven-year-old male who developed a large
right kidney tumor with multiple cystic lesions that contained enhanced
solid components. Whole-exome sequencing identified his germline
mutation in the FH gene and its loss of heterozygosity in the
tumor. This was the youngest-onset case of HLRCC-associated RCC to date.
This report may affect the starting age for future RCC-surveillance
programs for patients with HLRCC.