Chromosome 3 and 8q Aberrations in Uveal Melanoma Show Greater Impact on Survival in Patients with Light Iris versus Dark Iris Color

Increased Histological Tumor Pigmentation in Uveal Melanoma Is Related to Eye Color and Loss of Chromosome 3/BAP1

“…We recently showed that eye color influences tumor pigmentation, with light eyes having less pigmented tumors than dark eyes, 16 confirming the observation reported by Regan et al. 8 Furthermore, monosomy 3 (M3) had a greater influence on survival in patients with light eyes than in those with dark eyes.…”

“… 17 , 18 Chromosome copy number was determined either by karyotyping, fluorescence in situ hybridization, or single nucleotide polymorphism (SNP) array, and when any of these tests showed an abnormality, the case was considered aberrant (M3 or chromosome 8q gain). 16 BAP1 staining was performed with immunohistochemistry as previously described 14 , 15 and scored by an ophthalmic pathologist. Clinical and survival information was collected from patient charts, and follow-up time was defined as the time from enucleation to death or last recorded patient contact.…”

Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma

“…The larger and more anteriorly located CB tumors had a higher concentration of nucleic acids in post-radiation AH samples, which facilitated the detection of SCNAs and SNVs. Research has shown benefits in identifying tumor-derived prognostic molecular markers and even that eye color may play a role in the interaction of these biomarkers [ 33 ]. Thus, an AH liquid biopsy may serve as an adjunct to FNAB, for example, a biopsy performed at plaque placement and a paracentesis performed at the time of plaque removal, so that the complex prognostic association of tumoral biomarkers including GEP, SCNA, and mutations in key UM-related genes can be better understood and utilized.…”

Prognostic value of 8q gain in relation to BAP1 and SF3B1 mutated uveal melanoma

“…BAP1 MUT tumors contribute to >50% of all UM and are characterized by gains and losses of entire chromosomes or chromosome arms. Gain of 8q is often accompanied with monosomy 3, and its combination correlates with a worse prognosis [6, 7]. In contrast, SF3B1 MUT UM karyotypes are more complex and CNV often have recurrent distal breakpoints on chromosome 6 and 8.…”