Development of FISH Molecular Diagnostics to support Clinical Trials at NCI

病理实验室的染色体病理科(CPS)是CCR，NCI支持积极的NCI临床方案的宝贵资源。该部门为CCR研究人员提供临床诊断服务，采用荧光原位杂交(FISH)CLIA/CAP测试，以支持外科病理学诊断和测试患者的NCI临床方案资格。更重要的是，该实验室代表着一座从床到床的桥梁，与生物医学研究的最新发现保持同步，比参考实验室(CPS的研发部分)更快地将新发现带给临床患者测试。染色体病理科目前在NCI支持16项临床试验。这包括来自CCR调查人员整个社区的请求：神经肿瘤科、胸胃恶性肿瘤科、疫苗科、儿科肿瘤科、实验移植和免疫科、外科科、泌尿外科肿瘤科、主任办公室。主动测试菜单包括对实体肿瘤和血液系统恶性肿瘤中具有临床意义的染色体易位和扩增事件的FISH分析。CPS积极参与临床和研究合作，与CCR和其他NIH研究所的其他研究人员合作，推动基础和临床研究。CPS促进与LP内其他研究人员的合作，推进LP计划的临床和基础研究工作。除了分子细胞遗传学测试外，我们最近还实施了一项令人兴奋的新诊断临床测试，该测试使用Illumina平台进行基于阵列的全基因组DNA甲基化测试，以根据CNS肿瘤独特的基因组甲基化特征对其进行分类。这个CPS小组在NCI COMPASS计划内的工作朝着提高中枢神经系统和其他肿瘤分类的诊断精度的目标前进了一步

The Chromosome Pathology Section (CPS) of the Laboratory of Pathology is a valuable resource at CCR, NCI to support active NCI clinical protocols. The section provides clinical diagnostic service for CCR investigators with Fluorescence In Situ Hybridization (FISH) CLIA/CAP testing in support of Surgical Pathology diagnostics and testing patients for NCI clinical protocol eligibility. More importantly, the laboratory represents a bench-to-bedside bridge that keeps pace with the latest discoveries in biomedical research, bringing new discoveries to clinical patient testing more rapidly than would be available from reference laboratories (the R&D component of the CPS). The Chromosome Pathology Section currently supports 16 clinical trials at the NCI. That includes requests from the entire community of CCR investigators: Neuro-Oncology Branch, Thoracic & GI Malignancies Branch, Vaccine Branch, Pediatric Oncology Branch, Experimental Transplantation and Immunology Branch, Surgery Branch, Urologic Oncology Branch, Office of the Director. The active test menu includes FISH assays for clinically significant chromosomal translocations and amplification events in solid tumors and hematologic malignancies. CPS actively participates in clinical and research collaborations with other investigators within the CCR and other NIH Institutes to advance basic and clinical research. The CPS promotes collaborations with other Investigators within the LP advancing clinical and basic research efforts of the LP programs. In addition to Molecular Cytogenetic testing, we have recently implemented an exciting new diagnostic clinical testing that uses Illumina platform for array-based genome-wide DNA methylation testing to to classify CNS tumors based on their unique genomic methylation profiles. This CPS group effort within the NCI COMPASS program has been a step forward for the goal to enhance the diagnostics precision in CNS and other tumor classification