San Antonio, Texas USA (UroToday.com) Studies have shown that patients with renal cell carcinoma (RCC) have an increased risk of being diagnosed with melanoma. Researchers looking to identify germline genetic signatures from patients with RCC discovered that many patient samples were unusable because those patients also had a diagnosis of melanoma.
This was the genesis of the research conducted here by Gregg et al. from Vanderbilt University. They looked at patients with this dual-diagnosis (RCC + melanoma) to see if these patients had more aggressive RCC; and furthermore, to identify single nucleotide polymorphisms (SNPs) associated with these dual-diagnoses. They pooled available SNPs known to be associated with conditions related to RCC diagnosis or outcomes (e.g. BMI, hypertention, etc...) and examined them for associations with metastatic vs. non-metastatic RCC in dually-diagnosed patients.
In their retrospective cohort, 5.8% of patients diagnosed with RCC and with available tissue had a dual-diagnosis of RCC and melanoma. 39% of dual-diagnosis patients had metastatic RCC, contrasted to only 20% of patients with RCC-only diagnosis. Interestingly, the investigators did find a SNP associated with the dual-diagnosis: rs11030104-G, which is a SNP of the BDNF gene associated with BMI. However, this was only associated with dual-diagnosis in non-metastatic RCC patients.
They concluded that there is probably common genetic signature that overlaps the diagnosis of RCC and melanoma, though thus far they have only found this association with non-metastatic RCC patients. Their outcomes data suggest that dual-diagnosis, however, is generally associated with more aggressive RCC. Clearly, further research is needed to validate the genetic overlap between these two malignancies. The association between dual-diagnosis and more aggressive RCC begs further inquiry as better characterization may lead to a better understanding of both malignancies, and may illuminate drug targets not previously recognized as common among the two malignancies.
Authors: Justin Gregg, Zack Glaser, Curran Emeruwa, Johnson Wong, Chistopher Johnson, Arturo Holmes, Darrel Ellis, Loren Lipworth, Todd Edwards, and Peter Clark
Vanderbilt University Medical Center
17th Annual Meeting of the Society of Urologic Oncology - November 30 -December 2, 2016 – San Antonio, Texas USA