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Published on: January 22, 2013
Circulating tumor DNA analysis of metastatic renal cell carcinoma
Jingbo Zhang1, Yunchao Liu1, Bing Xu1
1Beijing USCI Medical Laboratory, Beijing 100049, P.R. China.
Abstract:
The genomic landscape of metastatic renal cell carcinoma (RCC) is not well understood, and currently available data suggest that it is functionally distinct from that of localized tumors. Additionally, the large number of approved and trial agents used to treat metastatic RCC likely cause selective adaptations in the tumors. Circulating tumor DNA (ctDNA) is a platform to non-invasively determine the genomic profiles of these tumors. The objectives of the present study were to corroborate previous ctDNA studies in metastatic RCC, to identify novel mutations in metastatic RCC, and to compare ctDNA profiles obtained from plasma and urine in patients with metastatic RCC. ctDNA sequencing using the plasma and urine of 50 patients with metastatic RCC who received ctDNA profiling as part of routine clinical care at a single institution was performed using an investigational 120-gene panel. Genomic alterations (GAs) were identified in all 50 patients. The genes with the most GAs were GNAS, PTEN, MYC, MET and HNF1A and novel mutations in additional genes were identified. A significant correlation between the number of GAs detected in matched urine and plasma samples was also identified, but only 28.1% of GAs detected in plasma samples were also detected in matched urine samples. The results of the present study were consistent with those of the largest previous study of ctDNA from patients with metastatic RCC and may help identify additional potential targets for the treatment of such patients.
Insights
Genomic profiling of metastatic renal cell carcinoma (RCC) using circulating tumor DNA (ctDNA) reveals common and novel mutations. Comparing plasma and urine ctDNA shows correlations but distinct detection rates, aiding potential therapeutic targets.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- The genomic landscape of metastatic renal cell carcinoma (RCC) remains incompletely characterized.
- Treatment adaptations in metastatic RCC may alter tumor genomics.
- Circulating tumor DNA (ctDNA) offers a non-invasive method for genomic profiling.
Purpose of the Study:
- To validate prior ctDNA findings in metastatic RCC.
- To discover novel mutations in metastatic RCC.
- To compare ctDNA profiles from plasma and urine in metastatic RCC patients.
Main Methods:
- ctDNA sequencing of plasma and urine from 50 metastatic RCC patients.
- Utilized an investigational 120-gene panel for genomic alteration (GA) detection.
- Analysis of GAs in the context of routine clinical care.
Main Results:
- Genomic alterations (GAs) were detected in all 50 patients.
- Most frequent GAs were in GNAS, PTEN, MYC, MET, and HNF1A; novel mutations were also identified.
- A correlation existed between urine and plasma GAs, though only 28.1% of plasma GAs were found in matched urine.
Conclusions:
- Study findings align with previous ctDNA research in metastatic RCC.
- Identified potential novel mutations and targets for metastatic RCC treatment.
- Plasma and urine ctDNA provide complementary, yet distinct, genomic information.
