Development of FISH Molecular Diagnostics to support Clinical Trials at NCI

开发 FISH 分子诊断以支持 NCI 的临床试验

• 批准号: 8158436
• 负责人: Svetlana Pack
• 金额: $ 31.88万
• 依托单位: DIVISION OF BASIC SCIENCES - NCI
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8158436
• 关键词: Clinical Trials; Development; Diagnostic; Molecular

The Chromosome Pathology Unit (CPU)was set up in 2010 to fulfill the need in the "in house" laboratory FISH tests required to support clinical trials at NCI. FISH diagnostics will be an integral part of the Pathology molecular diagnostics currently offered by the Lab of Pathology. The sensitivity and specificity of FISH diagnostics was found to be near 100% in recent reports of CAP that puts them in front line among other available tests based on PCR and immunohistochemistry that have a long-known specificity problem. The Unit has been equipped as state-of-the art laboratory that includes a new Zeiss epifluorescence microscope with the ApoTome feature that allows FISH analysis and imaging of thick tissue sections, SKY-cube for spectral karyotyping - a modern tool for the detection of chromosomal translocations in cancer cells and various hereditary syndromes. All small equipment to measure the DNA quantity, run PCR to validate the FISH data, the CO2 incubator to grow cells were purchased as well. The developed/ validated tests include Her-2 amplification in Breast Cancer Patients, cmyc translocation in Burkitt, and Diffuse Large B Cell Lymphomas, 1p/19q deletion tests as prognostic and diagnostic markers for brain tumors, Bcl-2 translocation detection in Follicular Lymphoma and other hematological malignancies, Alk-4 translocation in lung, hematological and pediatric cancers. Other tests that are in the pipeline include Urovision (Abbott) for the detection of altered cells in Bladder Cancer, TFE-3 translocation in kidney tumors, EML-4 translocation in lung cancer, EWSR1, FLI1 translocations in pediatric tumors (Ewing's sarcoma and Rabdomyosarcoma), etc. The lab is in the process to undergo CAP certification to start accepting patient samples for diagnostics.

染色体病理学中心 (CPU) 成立于 2010 年，旨在满足支持 NCI 临床试验所需的“内部”实验室 FISH 测试需求。 FISH 诊断将成为病理学实验室目前提供的病理学分子诊断的一个组成部分。最近的 CAP 报告发现，FISH 诊断的灵敏度和特异性接近 100%，这使得 FISH 诊断在其他基于 PCR 和免疫组织化学的现有检测中处于领先地位，而这些检测存在着长期已知的特异性问题。 该单位配备了最先进的实验室，包括一台带有 ApoTome 功能的新型蔡司落射荧光显微镜，可以对厚组织切片进行 FISH 分析和成像，以及用于光谱核型分析的 SKY-cube——一种用于检测染色体的现代工具。癌细胞易位和各种遗传综合征。还购买了用于测量 DNA 数量、运行 PCR 来验证 FISH 数据的所有小型设备以及用于生长细胞的 CO2 培养箱。开发/验证的测试包括乳腺癌患者中的 Her-2 扩增、Burkitt 和弥漫性大 B 细胞淋巴瘤中的 cmyc 易位、作为脑肿瘤预后和诊断标记的 1p/19q 缺失测试、滤泡性淋巴瘤中的 Bcl-2 易位检测和其他血液系统恶性肿瘤、肺癌、血液系统和儿科癌症中的 Alk-4 易位。其他正在进行中的测试包括用于检测膀胱癌中细胞改变的 Urovision (Abbott)、肾肿瘤中的 TFE-3 易位、肺癌中的 EML-4 易位、儿科肿瘤（尤文氏肉瘤和横纹肌肉瘤）中的 EWSR1、FLI1 易位）等。该实验室正在接受 CAP 认证，以开始接受患者样本进行诊断。