New genetic mutations discovered in conjunctival melanoma
Researchers writing in JAMA Ophthalmology say that whole exome sequencing might enable the detection of molecular mutations “targetable” by cancer therapies for conjunctival melanoma, an ocular cancer with few treatment options.
Little is known about the molecular pathogenesis of conjunctival melanoma, so this discovery is important because it may identify more treatment targets.
Researchers found that with whole-exome sequencing, mutations in genes associated with conjunctival melanoma were found in BRAF, NRAS, NF1, EGFR, APC, TERT and other cancer-associated genes with the most common chromosomal change was in 6p gain. In addition, the C to T mutation as shown in UV-induced DNA damage.
The findings are based on the whole-exome sequencing on tumors from five patients with conjunctival melanoma.
“These findings indicate a need for larger studies to evaluate the diagnostic, prognostic, and therapeutic value of whole exome sequencing for conjunctival melanoma,” researchers wrote.
Swarup S. Swaminathan, MD; Matthew G. Field, MS,; David Sant, et al. “Molecular Characteristics of Conjunctival Melanoma Using Whole-Exome Sequencing,” JAMA Ophthalmology. Published online November 9, 2017. doi:10.1001/jamaophthalmol.2017.4837