Title:The Molecular Pathology of Eye Tumors: A 2019 Update Main Interests for Routine Clinical Practice
Volume: 19
Issue: 9
Author(s): Sacha Nahon-Esteve, Arnaud Martel, Célia Maschi, Jean-Pierre Caujolle, Stéphanie Baillif, Sandra Lassalle*Paul Hofman*
Affiliation:
- Laboratory of Clinical and Experimental Pathology, University Cote d'Azur, Nice,France
- Laboratory of Clinical and Experimental Pathology, University Cote d'Azur, Nice,France
Keywords:
Molecular pathology, eye tumors, routine clinical practice, ophthalmic oncology, retinoblastoma, BRAF.
Abstract: Over the last few years, we have seen constant development of molecular
pathology for the care of patients with cancer. The information obtained from molecular
data has transformed our thinking about the biological diversity of cancers, particularly in
the field of ophthalmic oncology. It has reoriented the way in which therapeutic decisions
and decisions concerning patient surveillance are made, both in the area of pediatric
cancers, including rhabdomyosarcoma and retinoblastoma, and adult cancers, such as
uveal melanoma and lymphomas. A better definition of the molecular classification of
these cancers and of the different biological pathways involved is essential to the
understanding of both the pathologist and the onco-ophthalmologist. Molecular tests
based on targeted or expanded analysis of gene panels are now available. These tests
can be performed with tumor tissue or biofluids (especially blood) to predict the
prognosis of tumors and, above all, the benefit of targeted therapies, immunotherapy or
even chemotherapy. Looking for the BAP1 mutation in uveal melanoma is essential
because of the associated metastatic risk. When treating retinoblastoma, it is mandatory
to assess the heritable status of RB1. Conjunctival melanoma requires investigation into
the BRAF mutation in the case of a locally advanced tumor. The understanding of
genomic alterations, the results of molecular tests and/or other biological tests predictive
of a therapeutic response, but also of the limits of these tests with respect to the
available biological resources, represents a major challenge for optimal patient
management in ophthalmic oncology. In this review, we present the current state of
knowledge concerning the different molecular alterations and therapeutic targets of
interest in ophthalmic oncology.