Amanda Dixon-McIver
Abstract
Amanda Dixon-McIvera, Catherine Hanb, Gini Kumara
aIGENZ, Auckland, New Zealand; b161 Oncology, Auckland, New Zealand
Uveal melanoma (UM) is the most common intraocular malignancy. The incidence of UM is 10 cases per million per year in New Zealand (double that of the US). Treatment options include enucleation, plaque brachytherapy and localised radiotherapy. Despite successful treatment of the primary tumour, metastasis occurs in up to half of all patients.
The development of uveal melanoma has been associated with early oncogenic mutations affecting pathways involved with the regulation of the cell cycle of the control of cell apoptosis. They can be divided into two groups, Class I and Class II, defined by the presence of chromosomal changes that also provide prognostic information. Monosomy 3, in particular, is associated with a poor prognosis and a high metastatic potential.
Prior to the introduction of microarray technology into our laboratory interphase FISH analyses were performed using a cocktail of probes for the key genomic changes and conducted on paraffin-embedded uveal melanoma samples obtained post-enucleation. Since 2016 we have been using a customised Agilent 8 x 60K array to examine these cases.
Genetic abnormality was seen in 55 out of the 61 samples received. Our findings will be discussed, highlighting the importance of the detection of the poor prognostic markers and the implications of these findings for patient management.
A better understanding of the genetic changes associated with uveal melanoma and the ability to detect early metastatic potential may enable the development of a more effective screening programme and improve the poor prognosis currently associated with metastasis of this disease.