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.

染色体病理学部门（CPU）成立于2010年，以满足支持NCI临床试验所需的“内部”实验室FISH检测的需求。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。在最近的CAP报告中，发现FISH诊断的灵敏度和特异性接近100%，这使得它们在基于PCR和免疫组织化学的其他可用测试中处于第一线，这些测试具有长期已知的特异性问题。 该单位已配备了最先进的实验室，包括一个新的蔡司落射荧光显微镜与ApoTome功能，允许荧光原位杂交分析和成像的厚组织切片，天空立方体光谱核型分析-一个现代化的工具，检测染色体易位癌细胞和各种遗传综合征。还购买了用于测量DNA量、运行PCR以验证FISH数据、用于培养细胞的CO2培养箱的所有小型设备。开发/验证的检测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志物的1 p/19 q缺失检测、滤泡性淋巴瘤和其他血液恶性肿瘤中的Bcl-2易位检测、肺癌、血液和儿科癌症中的Alk-4易位。正在进行的其他测试包括Urovision（Abbott），用于检测膀胱癌中的改变细胞，肾脏肿瘤中的TFE-3易位，肺癌中的EML-4易位，EWSR 1，儿科肿瘤（尤文肉瘤和横纹肌肉瘤）中的FLI 1易位等。