Ultrasound, histopathological, and genetic features of uveal melanoma in a Mexican-Mestizo population

Abstract

Abstract Objective To describe the ultrasound, histopathological and genetic characteristics of uveal melanoma in a Mexican-Mestizo population. Material and methods A total of 39 enucleated eyes with a histopathological diagnosis of uveal melanoma were assessed by describing the clinical findings, and ultrasound, histopathological and genetic features. Results A high correlation was observed between tumor height measurement using ultrasound and histopathology. In our cases, tumor size and reflectivity were higher compared with those reported in the literature. The preliminary data on the molecular assessment of the tumors show the presence of an unreported polymorphism (T>C IVS5+34) and one sample with GNAQ mutation (A>C CAA>CCA Gln 209 Pro). Conclusion Ultrasound is a reliable method to identify the size of the tumor. Furthermore, knowledge of the molecular mechanisms promises new perspectives for the development of new targeted therapeutics. Fortunately this leads to progress in the treatment of patients with metastatic disease or prevents it in those at high risk.