Martel Arnaud, Gastaud Lauris, Bonnetaud Christelle, Nahon-Esteve Sacha, Washetine Kevin, Bordone Olivier, Salah Myriam, Tanga Virginie, Fayada Julien, Lespinet Virginie, Allegra Maryline, Lalvee Salome, Zahaf Katia, Baillif Stephanie, Bertolotto Corine, Mograbi Baharia, Lassalle Sandra, Hofman Paul
Ophthalmology Department, Nice University Hospital, 06001 Nice, France.
Institute of Research on Cancer and Aging in Nice (IRCAN), Team 4, Centre Antoine Lacassagne, Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM), Fédération Hospitalo-Universitaire (FHU) OncoAge, Côte d'Azur University, 06189 Nice, France.
Cancers (Basel). 2023 Apr 19;15(8):2372. doi: 10.3390/cancers15082372.
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.
眼部恶性肿瘤包括各种累及结膜、葡萄膜或眼周区域的罕见肿瘤。这些肿瘤的特点是数量稀少,以及组织学上,有时在基因上的多样性。葡萄膜黑色素瘤(UM)是最常见的原发性眼内恶性肿瘤。UM带来了三个主要挑战,突出了眼部恶性肿瘤的特殊性。首先,UM是一种非常罕见的恶性肿瘤,估计发病率为每百万居民6例。其次,由于存在眼外播散的风险,通常不建议进行组织活检。第三,UM是一种侵袭性癌症,因为据估计,约50%的患者会发生转移扩散,而现阶段没有任何治愈性治疗方法。这些挑战更好地解释了建立专门的UM生物样本库的两个主要目标。首先,由于组织稀缺,收集UM样本至关重要。其次,基于储存的人类样本的大规模转化研究项目将有助于更好地确定UM的发病机制,目的是识别新的生物标志物,实现早期诊断和新的靶向治疗方式。其他眼周恶性肿瘤,如结膜黑色素瘤或眼眶恶性肿瘤,也引发了特定的问题。在这种背景下,全球致力于眼部恶性肿瘤的生物样本库数量非常有限。本文的目的是(i)描述专门的眼部恶性肿瘤生物样本库所带来的特定挑战,(ii)报告我们建立这样一个生物样本库的经验,以及(iii)讨论该领域的未来前景。