INTRODUCTION
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal
dominant disease characterized by susceptibility to the development of
cutaneous leiomyomas, uterine leiomyomas, and renal cell carcinoma
(RCC). HLRCC is caused by heterozygous germline mutations in thefumarate hydratase (FH ) gene, and the incidence of RCC inFH mutation carriers is estimated to be around
15%.1–3 RCC in HLRCC usually occurs in adolescents
to middle-age adults, and the median age of RCC diagnosis is
40–44 years.2,
3 FH-deficient RCC is often diagnosed at an advanced stage with
metastases even if the primary tumor size is small. There is no standard
treatment for FH-deficient RCC with metastasis. The mean survival of
individuals diagnosed with advanced-stage FH-deficient RCC was
significantly shorter than that of individuals diagnosed with
early-stage RCC (15.8 vs. 80.8 months).3 Since only
diagnosis and early-stage intervention can improve disease-related
mortality, regular abdominal magnetic resonance imaging (MRI) is
recommended for carriers of FH mutations.1Based on the prior report of the then-youngest patient diagnosed to
date, 4 it is recommended that screening start around
age 8–10.1 Here, we report a male with HLRCC and very
early onset RCC at seven years old. This report may affect the starting
age for future RCC-surveillance programs for patients with HLRCC.