Broad spectrum mutational analysis of chromophobe renal cell carcinoma using next-generation sequencing

Abstract

Background: Chromophobe renal cell carcinoma (ChRCC) is a rare subtype of non-clear cell renal cell carcinoma. Due to its rarity, its molecular characterization as well as therapeutic targets are still not fully understood.

Methods: We performed a next-generation sequencing analysis using the platform Ion PGM System on 20 retrospectively collected ChRCC cases with the aim of identify molecular biomarkers with potential prognostic value or that could have therapeutic implications.

Results: We identified mutation onTP53, SMARCB1, RB1 and JAK3. The most frequently altered gene was TP53 (6/20, 30 % of cases). SMARCB1 mutation was found in 3 (15 %) patients and in all cases the mutational variant was p.T72 K, with known pathogenenic meaning. One (5%) patient presented a pathogenetic mutation of RB1. JAK3 was mutated in 1 (5%) patient and this mutation resulted to have uncertain pathogenetic significance.

Conclusion: ChRCC is a rare disease still not fully molecularly characterized. Next-generation sequencing analysis could be useful to identify potential mutation with prognostic value or that could be potential therapeutic targets.

Keywords: ChRCC; Chromophobe; NGS; Renal cell carcinoma; nccRCC.