Clinical Cancer Cytogenetics

NCI/CCR/LP临床细胞遗传学科的使命是为在Mark O.Hatfield临床研究中心接受评估和治疗的患者提供最先进的诊断服务；参与协作性临床转化研究；并在临床细胞遗传学服务和研究的原则和实践方面向学生、住院医生和研究员提供教学和指导。该项目占该部门工作的70%，其目标是对NCI和其他研究所医生根据临床研究方案输入的患者样本提供诊断服务和研究测试，就临床转化研究方案进行合作，并对学生、住院医生和研究员进行教学和指导。临床细胞遗传学科是NIH唯一提供细胞遗传学诊断服务的内部实验室。该实验室由美国病理学家学会、医疗保健组织认证联合委员会和1988年临床实验室改进法案进行检查和认证。我们目前对来自多个机构(NCI、NIAID、NHLBI、NHGRI、NIAMS、NIDDK和NICHD)和临床中心实验室医学部门的患者样本进行高度复杂的常规和分子细胞遗传学检测。在99%的病例中，检测是针对癌前和恶性疾病中的获得性染色体异常，在其余1%的病例中，是针对结构性染色体异常。我们的测试结果用于患者的诊断、分类、预后和治疗计划。它们还提供了关于可能对肿瘤的发生和发展至关重要的基因区域的关键信息，从而为进一步的恶性疾病的分子生物学研究提供了起点。分会成员正在对进入NCI和NHLBI临床研究方案的患者进行常规诊断和研究荧光分析。Arthur博士是以下八个积极方案的副研究员：a.97-C-0178氟达拉滨治疗慢性淋巴细胞白血病(CLL)：cDNA微阵列基因表达分析，以及临床前骨髓移植/免疫疗法研究，PI：Wyndham Wilson，M.D.，Ph.B.02-C-0052遗传性骨髓衰竭综合征中癌症易感性的病因学调查，PI：Blanche Alter，M.D.M.P.H.C.04-C-0079 BL22治疗难治性CD22阳性白血病和淋巴瘤的儿科I期试验，PI：Alan S.Wayne，2004-C-0102恶性血液病生物学研究，PI：Alan S.Wayne，M.D.E.08-H-0105单克隆性B细胞淋巴瘤和慢性淋巴细胞白血病/小淋巴细胞性淋巴瘤的自然史研究，PI：禤浩焯·维斯特纳，M.D.F.10-C-0079多发性骨髓瘤AZD6244的第二期研究，PI：Ola Landgren，M.D.，Ph.D.G.10-C-0096未确定意义的单克隆性白血病和黑色素瘤的自然史研究，PI：Ola Landgren，M.D.，Ph.D.G.10-C-0096医学博士，H.10-H-0141对以前未经治疗的慢性淋巴细胞性白血病/小淋巴细胞性淋巴瘤患者进行基于奥法图单抗的诱导化疗和巩固奥法图单抗免疫治疗的第二阶段研究，PI：Clifton Mo，M.D.作为这些研究的一部分产生的细胞遗传学数据对患者的诊断、分类和治疗计划是有用的。它们对于监测患者对实验治疗的反应，以及与其他研究研究的相关性也很重要。它们有可能发现这些疾病之间的新的临床病理联系，以及可能成为未来治疗目标的生物学机制。最后，在临床细胞遗传学服务和研究的原则和实践方面，分部成员教授和指导学生、住院医生和研究员。除了指导四名暑期学生和两名博士后研究员外，Arthur博士还是NCI/CCR/LP住院医生、NCI/CCR/LP血液病理学研究员和NHGRI临床细胞遗传学研究员的成员。在这一角色中，她为所有参加这些培训计划的住院医生和研究员提供教学讲座和实验室轮换。总之，临床癌症细胞遗传学项目提供独特的最先进的临床细胞遗传学服务，为LP和CCR提供基本的教育和服务，并为NCI临床和翻译研究项目提供广泛的协作支持。

The mission of the NCI/CCR/LP Clinical Cytogenetics Section is to provide state-of-the-art diagnostic services for patients evaluated and treated at the Mark O. Hatfield Clinical Research Center; to participate in collaborative clinical translational research; and to teach and mentor students, residents, and fellows in the principles and practices of clinical cytogenetics service and research. The goals of this project, which comprises 70 percent of the effort of the section, are to provide diagnostic service and research testing on samples from patients entered on clinical research protocols by NCI and other Institute physicians, to collaborate on clinical translational research protocols, and to teach and mentor students, residents, and fellows. The Clinical Cytogenetics Section is the only intramural NIH laboratory performing cytogenetics diagnostic services. The laboratory is inspected and certified by the College of American Pathologists, the Joint Commission for Accreditation of Healthcare Organizations, and the Clinical Laboratory Improvement Act of 1988. We currently perform highly complex routine and molecular cytogenetic testing on patient samples from a number of institutes (NCI, NIAID, NHLBI, NHGRI, NIAMS, NIDDK, and NICHD) and the Clinical Center Department of Laboratory Medicine. In 99 percent of cases the testing is for acquired chromosome abnormalities in premalignant and malignant disorders, and in the remaining 1 percent of cases is for constitutional chromosome abnormalities. The results of our testing are used for diagnosis, classification, prognosis, and treatment planning for patients. They also provide critical information regarding the gene regions that may be important for tumor initiation and progression, and thus serve as a starting point for further molecular biologic investigations of malignant diseases. Section members are conducting routine diagnostic and research fluorescence analyses of patients entered on NCI and NHLBI clinical research protocols. Dr. Arthur is an Associate Investigator on eight active protocols as follows: a. 97-C-0178 Fludarabine Treatment of Chronic Lymphocytic Leukemia (CLL): cDNA Microarray Gene Expression Analysis, and Pre-Clinical Bone Marrow Transplant/ Immunotherapy Studies, PI: Wyndham Wilson, M.D., Ph.D. b. 02-C-0052 Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes, PI: Blanche Alter, M.D. M.P.H. c. 04-C-0079 Pediatric Phase I Trial of BL22 for Refractory CD22-Positive Leukemias and Lymphomas, PI: Alan S. Wayne, M.D. d. 04-C-0102 Hematologic Malignancy Biology Study, PI: Alan S. Wayne, M.D. e. 08-H-0105 Natural History Study of Monoclonal B Cell Lymphocytosis (MBL) and Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma (CLL/SLL), PI: Adrian Wiestner, M.D. f. 10-C-0079 A Phase 2 Study of AZD6244 in Multiple Myeloma, PI: Ola Landgren, M.D., Ph.D. g. 10-C-0096 Natural History Study of Monoclonal Gammopathy of Undetermined Significance (MGUS) and Smoldering Myeloma (SMM), PI: Ola Landgren, M.D., Ph.D. h. 10-H-0141 A Phase II Study of Ofatumumab-based Induction Chemotherapy Followed by Consolidation Ofatumumab Immunotherapy in Previously Untreated Patients With Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma, PI: Clifton Mo, M.D. The cytogenetics data generated as part of these studies are clinically useful for diagnosis, classification, and treatment planning for patients. They are also important for monitoring patient response to experimental therapy, and for correlation with other research studies. They have the potential for discovery of new clinical-pathological associations among these diseases and of biological mechanisms that may be targeted with future therapies. Finally, section members teach and mentor students, residents, and fellows in the principles and practices of clinical cytogenetics service and research. In addition to mentoring four summer students and two postdoctoral fellows, Dr. Arthur is a member of the NCI/CCR/LP Resident, NCI/CCR/LP Hematopathology Fellow, and NHGRI Clinical Cytogenetics Fellow faculties. In this role, she provides didactic lectures and laboratory rotations for all residents and fellows enrolled in these training programs. In summary, the Clinical Cancer Cytogenetics program provides unique state-of-the-art clinical cytogenetics service, essential education and service to the LP and the CCR, and wide collaborative support for NCI clinical and translational research programs.