Valente Paola, Galardi Angela, Di Giannatale Angela, Romanzo Antonino, Novelli Antonio, Orlando Valeria, Colletti Marta, Russo Ida, De Vito Rita, Iarossi Giancarlo, Petroni Sergio, Sinibaldi Lorenzo, Buzzonetti Luca
Ophtalmology Unit, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Hematology/Oncology and Cell and Gene Therapy Unit, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Front Med (Lausanne). 2025 Mar 13;11:1480111. doi: 10.3389/fmed.2024.1480111. eCollection 2024.
Uveal melanoma (UM) is the second most common type of primary melanoma in adults, but it is extremely rare in children. We report a 12-year-old boy with a rare juvenile case of UM characterized by specific clinical and genetic features, including eye imaging and cytogenetic analysis. The tumor was analyzed using immunohistochemistry in order to confirm the clinical diagnosis and using next-generation sequencing (NGS) in order to investigate the correlation between pathological features and prognosis. The NGS revealed a somatic mutation in the GNAQ gene. Furthermore, we established a primary cell line (Opbg-UM1) to better understand the biology of this tumor in the pediatric setting. However, our case identified several factors predictive of poor prognosis, such as tumor proximity to the fovea and optic disc, large size, lack of pigmentation with mushroom configuration in category T2, and a complex karyotype showing numerical abnormalities on chromosome 6 and a mosaic loss of the Y chromosome in blood and in the primary cell line. This mutation may represent a poor prognostic factor in older children with UM.
葡萄膜黑色素瘤（UM）是成人中第二常见的原发性黑色素瘤类型，但在儿童中极为罕见。我们报告了一名12岁男孩，患有罕见的青少年型UM，具有特定的临床和遗传特征，包括眼部成像和细胞遗传学分析。使用免疫组织化学对肿瘤进行分析以确诊临床诊断，并使用下一代测序（NGS）来研究病理特征与预后之间的相关性。NGS显示GNAQ基因存在体细胞突变。此外，我们建立了一个原代细胞系（Opbg-UM1），以便更好地了解这种肿瘤在儿科环境中的生物学特性。然而，我们的病例确定了几个预后不良的预测因素，如肿瘤靠近中央凹和视盘、体积大、T2类中缺乏色素沉着且呈蘑菇状形态，以及复杂的核型，显示6号染色体存在数目异常，且血液和原代细胞系中Y染色体存在嵌合缺失。这种突变可能是大龄儿童UM预后不良的一个因素。
