Memorial Sloan Kettering Cancer Center, New York, NY
Brandon Manley , Daniel Tennenbaum , Jozefina Casuscelli , James Hsieh
Background: Previous large collaborative studies have been conducted to characterize the genetic mutations found in Clear Cell Renal Cell Carcinoma (ccRCC). However, these studies have covered all stages of disease. We examine the genetic frequency of mutations in recurrently mutated genes found in ccRCC among patients with advanced localized ccRCC, defined as T3 disease and no known metastasis at presentation. Methods: Reviewing data from The Cancer Genome Atlas (TCGA), The International Cancer Genome Consortium (ICGC), The Cancer Genomics Project Tokyo, Japan and our prospectively collected intuitional database we identified 76 patients with ccRCC and T3 disease. We calculated the frequency of several previously reported recurrently mutated genes including VHL, PBRM1, SETD2, BAP1, KDM5C, TERT (including promoter), TP53, MTOR, and PTEN. .We also reviewed and reported corresponding clinical information for this cohort. Results: Table provides the frequency of somatic mutations as well as demographic information of our cohort. Mutual exclusivity was found between mutations of BAP1 and TERT in all patients studied. Additionally, KDM5Cmutations were found in 20% of our patients. Conclusions: These results describe the frequency of several recurrently mutated genes present in high-risk ccRCC. The mutual exclusivity between BAP1 and TERT, both having been associated with aggressive disease, suggests a possible interesting relationship between the two. Focusing our investigation on a more precise cohort of patients’ staged disease allows for new perspectives on the genetics present. Further investigation into how these mutation burdens differ from lower-risk disease deserves further investigation.
Gene Frequency | |
VHL | 75% |
PBRM1 | 47% |
SETD2 | 18% |
BAP1 | 12% |
KDM5C | 20% |
TERT | 7% |
TP53 | 4% |
MTOR | 7% |
PTEN | 5% |
Pathology | |
T3a Nodal Involvement (NI) | 4 (5%) |
T3b NI | 3 (4%) |
T3c NI | 1 (1%) |
Total NI | 8 (11%) |
Survival | |
Median | 2.69 years |
Living* | 57 (75%) |
Deceased* | 19 (25%) |
Died of Disease | 13 (17%) |
Demographics | |
Males | 56 (74%) |
Females | 20 (26%) |
Median Age | 62.0 |
BMI Median | 29.4 |
*at time of last followup.
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