经过遗传分析后,从囊胞性新生体到光学囊性质母细胞瘤的诊断得到了修订
Mark M Magharious1, Melike Pekmezci, Mark D Mamlouk
1Departments of Ophthalmology (MMM, MP, JCH, MHL) and Radiology and Biomedical Imaging (MDM), University of California San Francisco, San Francisco, California; Division of Neuropathology (MP), Department of Pathology, University of California San Francisco, San Francisco, California; and Department of Radiology (MDM), The Permanente Medical Group, Kaiser Permanente Medical Center, Santa Clara, California.
概括
下一代测序修改了患者的诊断,从囊瘤到质母细胞瘤,突出了其在准确的癌症诊断和治疗规划中的关键作用.
科学领域:
- 神经瘤学神经瘤学
- 基因组医学是基因组医学.
- 眼科医生 眼科 眼科
背景情况:
- 一名患者呈现出视野缺陷,暗示着阴性损伤.
- 包括MRI和组织病理学在内的初步调查表明这是一个囊细胞性瘤.
- 标准诊断工作没有揭示恶性或自身免疫性疾病.
研究的目的:
- 研究下一代测序 (NGS) 在完善具有挑战性的神经瘤学诊断中的实用性.
- 为了确定视觉通路瘤的分子支柱,最初诊断错误.
- 为了证明先进的基因组分析如何改变患者管理.
主要方法:
- 综合视野测试和MRI用于解剖定位.
- 光学膜活检与免疫组织化学用于初步的病理评估.
- 全身PET/CT扫描以排除系统性恶性瘤.
- 瘤DNA的下一代测序以识别遗传变化.
主要成果:
- 最初的活检和免疫组织化学支持了对囊细胞性瘤的诊断.
- NGS揭示了PTEN突变,TERT促进体突变,CDK4/MDM2放大,以及染色体损失 (6q,10q),与囊性瘤不一致.
- 基因组概况被修改为IDH野生型质母细胞瘤,中枢神经系统WHO 4.级.
- 患者开始使用temozolomide和放射治疗.
结论:
- 下一代测序提供了关键的诊断信息,取代了最初的组织病理学发现.
- 基因组分析对于准确诊断和分类中枢神经系统瘤至关重要.
- 这一案例强调了分子诊断在神经瘤学中的变革性影响.
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