Ocular Melanoma

Ocular Melanoma Registry, click here.

This page outlines meetings and activities of the Town and the Regional Ocular Melanoma Committee and its partners related to concerns around the occurrence of ocular melanoma locally.

October 2020 - Dr. Brennan gave the Board of Commissioners a virtual update during their October 19, 2020 meeting. Research Whole Genome Sequencing was performed on DNA extracted from blood samples submitted by 9 individuals. WGS data was analyzed for germline variants associated with Cancer Predisposition syndromes. No pathogenic or likely pathogenic variants were detected in genes associated with known Cancer Predisposition syndromes nor any genes specifically associated with Uveal Melanoma in any of the individuals submitted for sequencing.

November 2019 - Additional research is underway, as the Town is moving forward following the October 21 report by Dr. Brennan and the recommendation to complete blood sampling (serum analysis, whole genome sequencing) of additional patients.  

October 21, 2019 - Update to Town Board of Commissioners
The Huntersville Board of Commissioners received an update on Monday, October 21, 2019, from (1) Ophthalmologist Dr. Michael Brennan on tissue sample research used to conduct genomic analysis of ocular melanoma cases and from (2) Hart & Hickman on soil sampling activities conducted at four sites around town (3 identified by tissue densities of the cases and 1 as a background site that was not identified as having tissue densities to compare to the sites that did).  

(1) Genomic Analysis Presentation 

(2) Soil Testing Presentation

Genomic Analysis Update:

Whole Genome Sequencing (WGS) is the science of determining the order of genetic material also known as DNA at a specific time. The DNA nucleotides, or bases, are arranged in a particular order for different types of cells in the body and this makes up a person’s genome. Both healthy cells and cancer cells have DNA that are unique to those cells. To compare the DNA in healthy cells to cancer cells using WGS, cells from both tumor and healthy tissue were analyzed to compare the tumor DNA to healthy cell DNA in hopes of identifying mutations (changes in a cell’s DNA) that are unique to the cancer genome, in this case ocular melanoma. Once you have whole genome data for both types of cells, computer algorithms can be used to query known genomic sequences of DNA and a discovery can be made. This allows the comparison of different types of uveal melanoma populations (e.g. Auburn, AL) and among public databases to identify cell changes that might suggest an environmental exposure of origin or specific mutational process that is unique to that cell.

Per Dr. Brennan, based on the research by the University of Miami, the analysis of possible mutations among uveal melanoma cases (as shown his slides during his presentation in the link above) will be interesting to compare the sequencing data from the Huntersville and Auburn cases to the genomic sequence databases to see what similarities and differences might exist. This kind of research is also beneficial in improving treatment for ocular melanoma patients by identifying what types of cells are present based this sequencing science and what the presence of those cells indicate in terms of development or progression of the cancer. 

There were limitations of the study, which narrowed the study population to six samples that were able to be used.  Of the 22 reported cases, 11 patients/family members consented to allowing the use of any leftover tumor tissue. However, we were only able to get 7 primary tumor samples (one of which was a needle aspiration so there really wasn’t enough material to be used) and 2 liver samples therefore 6 patients yielded sufficient tissue, quality and quantity samples sent to Columbia University and the University of Miami Ophthalmic Oncology Departments for genome sequencing.  

Ultimately, the final report is based on the samples from working with ophthalmic oncology genetics experts at the University of Miami who collaborated with the doctors at Columbia University and the results show nothing unique about the DNA sequences among the ocular melanoma cases and did not signal any likelihood of an occupational or environmental exposure.

Next Steps, per Dr. Brennan:

  • Whole Genome Sequencing on fresh serum (blood) in partnership with Atrium Health Levine Children’s Hospital, Columbia University and the University of Miami
  • Less “conclusive” but easier DNS extraction/analysis
  • Consider selective “Young, Female” sub-Population
  • Participate with Cancer Research Advisory Panel
  • State Registry Enhancement 
  • Address recently identified patient(s); Promote: #EYEGETDILATED
  • Continue collaboration with Auburn, AL population (following a similar process to Huntersville) CURE OM and State, National, and International Ophthalmology and Oncology Organizations

Soil assessment for the Town of Huntersville at four locations:

  • Hopewell High School
  • Stephens Road Nature Preserve
  • North Mecklenburg Park
  • Huntersville Fire Station No. 3

There was no obvious soil contamination based on field screening. Borings were installed to 3 feet below the ground surface. Soil samples were screened for visual staining, odors and coal residuals. Soil samples were also screened for volatile organic vapors using a photoionization detector. There were no obvious indications of soil impacts or coal residuals based on field screening. Therefore, shallow soil samples (0 to 1 ft) were collected for laboratory analysis. Shallow soils would have a higher potential for contact with the population.

Laboratory analytical results do not indicate the presence of soil contamination. Samples were analyzed by Pace Analytical Services, LLC of Huntersville. Soil analyses included 144 compounds across 3 compound classes:

  • Volatile organic compounds by EPA Method 8260 (67 compounds)
  • Semi-volatile organic compounds by EPA Method 8270 (69 compounds)
  • RCRA metals by EPA Method 6020/7471 (8 compounds)

Based on the results of soil assessment activities, H&H does not recommend additional soil assessment activities at this time.

Previous Research

On April 17, 2017, Huntersville Commissioners approved testing and analyses on genetic and tissue testing using samples from willing patients and a contract with GEODYSEY to conduct a geospatial investigation, including scientific collaboration with epidemiologists from the University of North Carolina (UNC).

Tissue sampling was done through next generation sequencing and transcriptome analysis for cases with sufficient material through the Columbia University Medical Center (CUMC) Genomics Technologies Core of the Herbert Irving Comprehensive Cancer Center. Similar epigenetic analysis were performed on all cases with sufficient DNA material.  We assessed the cellular immune infiltrate within the tumor microenvironment of the available cases using available archived tumor specimens to determine cell phenotypes and localization.

Geospatial investigation

The GeoSpatial Investigation was an outcome-based investigation to seek the possible cause for uveal melanoma and a collaborative effort by:  John Cassels, Geo-Spatial Analyst, GEODESY, INC.; Andrew F. Olshan, Ph.D. , Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina; Marlana Orloff, MD,  Department of Medical Oncology, Thomas Jefferson University Hospital; Takami Sato, MD, PhD,  Metastatic Uveal Melanoma Program, Jefferson Medical College; and Michael Brennan, MD,  Retired Ophthalmologist to look at the connection of time and space and where identified patients spent it around the region to seek connections.

Geo Opens in new window

In December, 2016, The Town entered into a professional services agreement with Hart & Hickman to do internal research through medical journals, the Centers for Disease Control (CDC) and other outlets to identify any chemicals that are associated with uveal / ocular melanoma.  At its April 3, 2017 meeting, Huntersville Commissioners received an update that research by Hart & Hickman did not identify any chemicals associated with this cancer.  Working with retired Ophthalmologist Dr. Michael Brennan and communicating with the State of North Carolina’s Department of Health and Human Services, they recommended two proposals - a geospatial study and genetic and tissue testing - based on their research and through their discussions with leading doctors.

Funds and authorization to study these recurrences locally came from a $100,000 grant from the State.

Duke Energy Handouts at February 22, 2019 Ocular Melanoma Meeting

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