Tumor biopsy can identify prognostic biomarkers for metastatic uveal melanoma, however aqueous humor liquid biopsy has the potential to provide sufficient circulating tumor DNA (ctDNA) to perform genetic analysis as well. At the American Academy of Ophthalmology (AAO) annual meeting, , of Massachusetts Eye and Ear at Mass General Brigham in Boston, presented an update on the role of using ctDNA in the practice of managing patients with ocular melanoma.
In this exclusive Ƶ video, Kim offers some highlights of her presentation.
Following is a transcript of her remarks:
So at AAO I gave a little bit of an update on the role of using circulating tumor DNA in the practice of managing patients with ocular melanoma. Currently circulating tumor DNA is being commonly used as a biomarker to track status and progression of disease in many other cancers. It's routinely used in the management of lung cancer to detect for targetable mutations that guide therapies. But it's being more explored in the context of uveal melanoma recently.
It's not routine in practice, so the uses are kind of more exploratory. There are many centers looking at assays of specific recurring mutations in uveal melanoma, such as GNAQ and GNA11, and the rate of being able to detect those in patients with ocular-only disease is extremely variable. Most studies show that we can't reliably detect them in patients with ocular-only disease. But we can detect it pretty reliably in patients with metastatic disease.
So currently there have been a few studies published that show that tracking levels of ctDNA in uveal melanoma patients may give us an early read into potential metastatic disease. And also it's been used in conjunction with a newly approved treatment, a newly approved immunotherapy for metastatic uveal melanoma known as tebentafusp [Kimmtrak]. And it looks like tracking levels of ctDNA in patients treated with this drug is almost a better predictor of outcome and survival than looking for regression on radiologic imaging. So that seems to be a promising use.
I think ultimately our hope is that we can develop an assay that's sensitive enough that we can detect it before radiologic signs of metastatic disease and use it to track adjuvant therapies -- so treatments to prevent metastatic disease -- because we know right now we can predict which uveal melanoma patients are at highest risk for developing metastases based on genetic profiling of the primary tumor. We don't have a lot of interventions that we can do to modify that risk. There are trials ongoing looking at agents, and we're hoping that ctDNA can be a biomarker used in conjunction with imaging to see if we can get an idea, an early indicator, of efficacy prior to actually real [metastases] showing up on liver imaging.