Genetic and Chromosomal Aberrations and Their Clinical Significance in Renal Neoplasms

Table 2

Hereditary RCCs and their related genetic aberrations.

Tumour type	Syndrome	Clinical manifestation	Chromosome	Candidate gene
ccRCC	Von Hippel-Lindau (VHL)	Retinal, cerebellar and spinal hemangioblastoma; pheochromocytoma; pancreatic, epididymal and renal cysts; hemangiomas of the adrenals, liver, and lungs; endolymphatic sac tumours; cystadenoma of the epididymis or broad ligament and ccRCC (40–75%) [19, 20]	3p25	VHL
	Constitutional chromosome 3 translocation	ccRCC	Various breakpoints in chromosome 3	Possible breakpoint associated genes: NORE1, LSAMP, DIRC1, DIRC2, DIRC3, FHIT, TRC8; Possible known common gene lost from translocation: VHL
pRCC	Hereditary papillary RCC (HPRC)	pRCC	7q31	MET
	Hereditary leiomyomatosis and RCC (HLRCC)	Cutaneous leiomyomas, uterine fibroids, type II; Renal tumours (14–18%) for example pRCC and CDRCC [149, 152, 154, 203]	1q42-43	FH
chRCC or RO	Birt-Hogg-Dubé (BHD)	Skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancer (20–29%) (chRCC, RO, ccRCC and pRCC) [204–206]	17p11.2	BHD, FLCN