Renal cancers in HLRCC metastasise early and are aggressive.rr Renal cancer occurs in only 20-35% of HLRCC families and the precise risk of developing renal cancer is unclear. The youngest reported age at diagnosis is age 10 and with metastatic renal cancer is age 16.r The average age of renal cancer diagnosis is mid-40s. Some groups have proposed screening during childhood,r but, as the absolute risk of RCC in childhood is low (1-2%), consensus has not been reached regarding the optimal age to start.r The option of screening from an earlier age could be discussed in certain families e.g. where there is young onset, strong family history of renal cancer.
Annual MRI (or CT with contrast if MRI is contraindicated) is recommended from age 18. Ultrasound is less sensitive for screening than MRI as papillary tumours are often difficult to visualise, being isoechoic when small. HLRCC-associated renal cancer can metastasise when very small;r therefore renal ultrasound is considered insufficient imaging as a single modality.rr Annual CT may cause excessive radiation exposure.
HLRCC-associated renal cancers can display a spectrum of radiological appearances, including solid and cystic lesions. Expert opinion recommends that any cystic or indeterminate lesion noted in an individual with HLRCC is reviewed by a multidisciplinary team experienced in this condition, as a low threshold for intervention and shortened interval for follow-up may be appropriate.
There is no evidence screening detects renal cancer at an early stage or improves survival.
Although most patients are likely to have a solitary renal cancer, aggressive surgical management including wide surgical margin for small lesions, or total nephrectomy, is recommended.r There is no evidence for risk-reducing surgery.
Uterine leiomyoma (fibroids)
There is no evidence for surveillance.
Surgical resection (myomectomy or hysterectomy) of symptomatic fibroids is required for 52% of individuals with HLRCCr and occurs around 10 years younger than the general population (age 30 as opposed to age 40 years).r There is no evidence for risk-reducing surgery.
Mean onset of cutaneous leiomyoma occurs at ages 25-30 years, with the youngest carrier reported to have developed lesions at age 9 years.rr
There is no evidence for annual skin review, but features that should prompt referral for dermatologic assessment include large size, rapid growth, ulceration, irregular shape, increasing pain and itchiness, due to reports of cutaneous leiomyosarcoma. Leiomyosarcoma was reported in 2% of individuals with HLRCC in one French cohort.r
There is no evidence for surgery for asymptomatic and unchanging lesions.