Pediatric Renal Cell Carcinoma

Kiersten M. Craig; Dix P. Poppas; Ardavan Akhavan


Curr Opin Urol. 2019;29(5):500-504. 

In This Article

Hereditary Renal Cell Carcinoma Syndromes

When compared with spontaneous RCC, RCC associated with familial syndromes typically present with a higher proportion of multifocality and bilaterality, and it also typically presents at a younger age. Clear cell type RCC is associated with Von Hippel–Lindau syndrome (VHL gene, chromosome 3p25-26) and succinate dehydrogenase RCC syndrome (SDHB gene, chromosome 1p6.1–35 or SDHD gene, chromosome11q23). Papillary type 1 RCC is associated with hereditary papillary renal carcinoma (cMET proto-oncogene, chromosome 7q31) and papillary type 2 RCC is associated with hereditary leimyomatosis renal cell carcinoma (fumarate hydratase gene, chromosome 1q 42–43) and hereditary papillary RCC syndrome. Chromophobe type RCC is associated with Birt–Hogg–Dube syndrome (Folliculin gene, chromosome 17p11.2). RCC can also be seen in patients with tuberous sclerosis (TSC1 and 2, 9q34.13 & 16 p13.3, respectively).[4,9–11]