Genomic landscape and clinical actionability of renal cell carcinoma in an Indian cohort: A real-world targeted next-generation sequencing study

Table 1 Baseline patient and tumour characteristics of the study cohort (n = 48), n (%)/median (range)

Characteristic
Age at diagnosis (years)	58 (32-84)
Biological sex
Male	36 (75)
Female	12 (25)
Histological subtype
Clear cell RCC	39 (81.3)
Papillary RCC	5 (10.4)
Other/unclassified	4 (8.3)
AJCC clinical stage
Stage I	15 (31.25)
Stage II	6 (12.5)
Stage III	16 (33.3)
Stage IV	11 (22.9)
Nuclear grade (WHO/ISUP)
Grade I-II	33 (68.75)
Grade III	7 (14.58)
Grade IV	8 (16.6)
Tumour content in block (%)	80 (30-95)

RCC: Renal cell carcinoma; WHO/ISUP: World Health Organization/International Society of Urological Pathology.

Table 2 Frequency of genomic alterations detected across the targeted next-generation sequencing panel, n (%)

Gene	Total cohort mutated (n = 48)	ccRCC subgroup mutated (n = 39)	TCGA benchmark[1]
VHL	17 (35.4)	15 (38.5)	Approximately 50%
PBRM1	12 (25.0)	10 (25.6)	Approximately 30%
SETD2	7 (14.6)	6 (15.4)	Approximately 12%
ATM	6 (12.5)	-	Approximately 3%
TP53	6 (12.5)	-	Approximately 3%-4%
KDM5C	4 (8.3)	-	Approximately 6%
TSC1	4 (8.3)	-	Rare
MTOR	3 (6.3)	-	Approximately 7%
TSC2	3 (6.3)	-	Rare
PIK3CA	2 (4.2)	-	Rare
BAP1	2 (4.2)	-	Approximately 10%
MET	0 (0.0)	0 (0.0)	Rare (ccRCC)/approximately 13% (pRCC)

ccRCC: Clear cell renal cell carcinoma; TCGA: The Cancer Genome Atlas; pRCC: Papillary renal cell carcinoma.

Table 3 Most frequent co-occurring somatic mutation pairs

Intersecting mutation pair	Number of patients (n)
VHL + PBRM1	6
VHL + SETD2	4
TP53 + KDM5C	4
VHL + TSC1	3
PBRM1 + ATM	3