Need for a Dedicated Ophthalmic Malignancy Clinico-Biological Biobank: The Nice Ocular MAlignancy (NOMA) Biobank

Abstract

Ophthalmic malignancies include various rare neoplasms involving the conjunctiva, the uvea, or the periocular area. These tumors are characterized by their scarcity as well as their histological, and sometimes genetic, diversity. Uveal melanoma (UM) is the most common primary intraocular malignancy. UM raises three main challenges highlighting the specificity of ophthalmic malignancies. First, UM is a very rare malignancy with an estimated incidence of 6 cases per million inhabitants. Second, tissue biopsy is not routinely recommended due to the risk of extraocular dissemination. Third, UM is an aggressive cancer because it is estimated that about 50% of patients will experience metastatic spread without any curative treatment available at this stage. These challenges better explain the two main objectives in the creation of a dedicated UM biobank. First, collecting UM samples is essential due to tissue scarcity. Second, large-scale translational research programs based on stored human samples will help to better determine UM pathogenesis with the aim of identifying new biomarkers, allowing for early diagnosis and new targeted treatment modalities. Other periocular malignancies, such as conjunctival melanomas or orbital malignancies, also raise specific concerns. In this context, the number of biobanks worldwide dedicated to ocular malignancies is very limited. The aims of this article were (i) to describe the specific challenges raised by a dedicated ocular malignancy biobank, (ii) to report our experience in setting up such a biobank, and (iii) to discuss future perspectives in this field.

Keywords: biobank; liquid biopsy database; ophthalmic malignancies; tissue biopsy; uveal melanoma.

Figure 1

The spectacular variety of periocular melanomas.

Figure 2

Whole biobanking process for UM patients.

Figure 3

Composition of the NOMA Biobank samples.

Figure 4

Summary of the UM tissue and liquid biopsy samples available in the NOMA Biobank.

Figure 5

Details of the origin of UM samples included in the NOMA Biobank. Primary enucleation: no treatment before surgery. Secondary enucleation: treatment before surgery (proton therapy).

Figure 6

Pathological TNM classification of the tumors of enucleated patients.

Figure 7

Chromosomal abnormalities and Trolet classification of 28 enucleated UM patients.

Figure 8

Number of scientific publications related to ocular oncology and translational research published over the last 4 years by Nice University Hospital thanks to the use of samples.