Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
Human Genetics Institute "Dr. Enrique Corona Rivera", Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
Int J Mol Sci. 2024 Nov 17;25(22):12338. doi: 10.3390/ijms252212338.
Variants in the gene are associated with retinoblastoma (RB) development, and their presence in germline cells considerably increases the risk of subsequent malignant neoplasms (SMNs) in RB survivors. We report a female patient with bilateral RB who developed two SMNs in less than ten years, with a de novo pathogenic nonsense variant in [NM_000321.3:c.306T>A, p.(Cys102*)] in heterozygosity. The updated literature review of similar cases of SMN in patients with a previous diagnosis of RB reveals a wide range in both the type of subsequent malignancy and the age at which these SMNs develop. In addition, we identified only three cases with two SMNs following RB diagnosis, with at least one of these being an EWS. This case broadens the clinical and genetic landscape of RB, demonstrates the importance of a multidisciplinary approach in these patients, and highlights genetic diagnosis as a mandatory feature for management.
该基因的变异与视网膜母细胞瘤（RB）的发展有关，其生殖细胞中的存在极大地增加了 RB 幸存者随后发生恶性肿瘤（SMN）的风险。我们报告了一名双侧 RB 女性患者，不到十年内发生了两种 SMN，其杂合性中存在新出现的致病性无义变异 [NM_000321.3:c.306T>A，p.（Cys102*）]。对先前诊断为 RB 的患者发生 SMN 的类似病例的最新文献回顾显示，随后发生的恶性肿瘤的类型和这些 SMN 发生的年龄差异很大。此外，我们仅在 RB 诊断后发现了三例有两种 SMN 的病例，其中至少有一种是 EWS。该病例拓宽了 RB 的临床和遗传范围，证明了对这些患者采取多学科方法的重要性，并强调了遗传诊断是管理的强制性特征。
