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Broad spectrum mutational analysis of chromophobe renal cell carcinoma using next-generation sequencing
Veronica Mollica1, Tania Franceschini2, Elisa Gruppioni2
1Division of Oncology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Albertoni - 15, Bologna, Italy.
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.
Insights
Next-generation sequencing identified mutations in TP53, SMARCB1, RB1, and JAK3 in chromophobe renal cell carcinoma (ChRCC). These findings offer potential prognostic biomarkers and therapeutic targets for this rare cancer.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Chromophobe renal cell carcinoma (ChRCC) is a rare non-clear cell subtype.
- Limited understanding of ChRCC molecular landscape and therapeutic targets exists due to its rarity.
Purpose of the Study:
- To identify molecular biomarkers in ChRCC with prognostic or therapeutic potential.
- To characterize the molecular alterations in ChRCC using next-generation sequencing.
Main Methods:
- Next-generation sequencing (Ion PGM System) was performed on 20 ChRCC cases.
- Retrospective analysis of collected ChRCC samples.
Main Results:
- Mutations were identified in TP53 (30%), SMARCB1 (15%), RB1 (5%), and JAK3 (5%).
- The SMARCB1 mutation (p.T72K) had known pathogenic significance.
- TP53 mutations were the most frequent genetic alteration observed.
Conclusions:
- Next-generation sequencing aids in characterizing rare ChRCC.
- Identified mutations may serve as prognostic markers or therapeutic targets for ChRCC.
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