当前位置:
X-MOL 学术
›
Ophthalmic Genet.
›
论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Molecular analysis confirms retinoblastoma diagnosis in a histologically undifferentiated retinal tumor in an adult.
Ophthalmic Genetics ( IF 1.2 ) Pub Date : 2020-06-16 , DOI: 10.1080/13816810.2020.1765398 Sameh E Soliman 1, 2 , Silvia Martínez 2, 3 , M Laura De Nicola 4 , Rasmus Kiehl 5 , Hatem Krema 2, 6
中文翻译:
分子分析证实了成年视网膜神经母细胞瘤在组织学上未分化的视网膜肿瘤中的诊断。
更新日期:2020-07-20
Ophthalmic Genetics ( IF 1.2 ) Pub Date : 2020-06-16 , DOI: 10.1080/13816810.2020.1765398 Sameh E Soliman 1, 2 , Silvia Martínez 2, 3 , M Laura De Nicola 4 , Rasmus Kiehl 5 , Hatem Krema 2, 6
Affiliation
Retinoblastoma is the most common pediatric intraocular cancer. Rarely, it may develop in adults, with different clinical and imaging characteristics that make the diagnosis a challenge. We present a case of a white retinal tumor in a 42-year-old woman that progressed slowly over 3 years and on enucleation an undifferentiated tumor was found without a conclusive diagnosis. Molecular analysis identified RB1 pathogenic variant that confirmed retinoblastoma diagnosis in this discordant clinicopathologic presentation of the tumor.
中文翻译:
分子分析证实了成年视网膜神经母细胞瘤在组织学上未分化的视网膜肿瘤中的诊断。
视网膜母细胞瘤是最常见的小儿眼内癌。罕见地,它可能在成人中发展出来,具有不同的临床和影像学特征,使诊断成为一个挑战。我们介绍了一名42岁女性的白色视网膜肿瘤病例,该病例在3年内进展缓慢,去核后发现未分化的肿瘤,没有确凿的诊断。分子分析鉴定了RB1致病变体,证实了在这种不一致的肿瘤临床病理表现中诊断成视网膜细胞瘤。