Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient

Abstract

Hereditary leiomyomatosis and renal cell cancer is a hereditary cancer syndrome in which affected individuals are at risk for cutaneous and uterine leiomyomas, and renal cancer. Previous reports have stressed the aggressiveness of the renal tumours, often with early metastasis, despite small primary tumour size. Almost all the previously reported patients were adults, and different studies showed variability in penetrance for the renal tumours. We report a patient in whom renal cancer was detected at the age of 11 years at his first routine screening imaging after he was found to carry a fumarate hydratase gene mutation (c.1189G > A) transmitted from his mother. This report serves to emphasize the need to improve guidelines for screening of at risk individuals, including the necessity for predictive genetic testing and early institution of tumour surveillance in childhood.

Structured assessment and followup for patients with hereditary kidney tumour syndromes

“…Papillary type II RCC is the predominant type of renal tumour associated with HLRCC; however, collecting duct carcinoma and tubulo-papillary carcinoma have also been reported. 33 Renal tumours associated with HLRCC are considerably more aggressive than renal tumours in other hereditary tumour syndromes and benefit from early detection and aggressive treatment, often including surgical removal with regional lymphadenectomy. 33,34 The diagnosis of renal cancer occurs predominately between the ages of 15 and 29, but has been shown to range from 5-48 years of age.…”

“…33 Renal tumours associated with HLRCC are considerably more aggressive than renal tumours in other hereditary tumour syndromes and benefit from early detection and aggressive treatment, often including surgical removal with regional lymphadenectomy. 33,34 The diagnosis of renal cancer occurs predominately between the ages of 15 and 29, but has been shown to range from 5-48 years of age. 33,34 Estimated cumulative cancer risk in this disease is 15% and there is a relatively low risk of developing RCC before 20 years of age (about 1-2%).…”

PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood

“…Alrashdi and colleagues reported an 11 year old with an RCC, which was discovered via ultrasound surveillance, with a palpable renal mass (47), and Menko and colleagues (46) reported a case occurring in a 10-year-old child. Nevertheless, the estimated risk of developing RCC before age 20 is estimated to be only around 1% to 2% (46), whereas the lifetime risk of RCC among FH pathogenic variant carriers is estimated to be around 15%.…”

“…Nevertheless, the estimated risk of developing RCC before age 20 is estimated to be only around 1% to 2% (46), whereas the lifetime risk of RCC among FH pathogenic variant carriers is estimated to be around 15%. Therefore, some groups have recommended testing and screening only after the individual is 18 years of age (32,34), although others have recommended screening to start as early as 5 years old given the youngest reported case (47). In 2014, consensus guidelines from an international HLRCC symposium recommended annual renal MRI starting at age 8 to 10 years, as also recommended by the HLRCC Family Alliance and the French National Cancer Institute (46,48,49).…”

“…Importantly, Menko and colleagues (46) acknowledge the importance of making the decision regarding predictive testing and screening on an individual basis. Most groups have recommended annual renal MRI as a surveillance imaging modality (34,37,46), but others have also suggested every-6-month renal ultrasound screening for younger children with or without a baseline CT scan (34,47,50). Others have recommended semiannual imaging with alternating annual MRI and ultrasound (32,50).…”