Hereditary leiomyomatosis and renal cell carcinoma (HLRCC)

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary condition associated with multiple smooth muscle tumours (leiomyomas) in the skin, uterine fibroids (non-cancerous growths in a woman’s uterus), and renal cell carcinoma (RCC). A recent study published in European Urology Oncology looks at the clinical features, molecular genetics and prognosis in 69 families with HLRCC.

In total, 185 individuals from 69 families in the UK were included in the study. Twenty-three individuals (12.4%) had a confirmed renal tumour. Of the 18 people where histopathology was known, seven had clear cell RCC, nine papillary RCC (six of type 2), one collecting duct tumour, and one tumour with oncocytic cystic morphology. Mean age at symptomatic RCC diagnosis was 44 and median survival was 21 months. Of the 81 individuals who had a renal imaging scan, only three had stage 1 RCC. Mean survival of individuals diagnosed with stage 1/2 RCC was significantly longer than those diagnosed with stage 3/4 RCC.

Management of HLRCC is challenging because RCC occurs in a minority of hereditary leiomyomatosis cases and is highly aggressive. This study has shown that renal screening in HLRCC detects early-stage RCC.

In summary, the study shows that hereditary leiomyomatosis and RCC is associated with a 21% lifetime risk of RCC, and renal imaging screening detects early-stage RCC.

Read more in European Urology Oncology here

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