Clinical Cancer Cytogenetics

NCI/CCR/LP临床细胞遗传学部门的使命是为在Mark O. Hatfield临床研究中心评估和治疗的患者提供最先进的诊断服务；开展临床转化性肿瘤细胞遗传学研究；教授和指导学生、住院医师和研究员临床细胞遗传学服务和研究的原则和实践。该项目的目标是为NCI和其他研究所医生进入临床研究方案的患者样本提供诊断服务和研究测试，在NCI临床转化研究方案上进行合作，并教授和指导学生、住院医生和研究员。临床细胞遗传学科是唯一的NIH内部实验室进行细胞遗传学诊断服务。该实验室由美国病理学家学会、医院认证联合委员会和1988年临床实验室改进法案进行检查和认证。目前，我们对来自多个研究所（NCI， NIAID， NICHD）和临床中心检验医学部的患者样本进行高度复杂的常规和分子细胞遗传学检测。在超过80%的病例中，检测是针对恶性前病变和恶性疾病的获得性染色体异常，其余病例是针对体质染色体异常。我们的检测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发生和进展很重要的基因区域的关键信息，因此可以作为恶性疾病进一步分子生物学研究的起点。该组成员对进入NCI临床研究方案的患者进行常规诊断和研究荧光原位杂交（FISH）、比较基因组杂交（CGH）和光谱核型分析（SKY）。亚瑟博士是以下七个有效方案的副研究员：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和临床前骨髓移植/免疫治疗研究”，PI: Wyndham Wilson， M.D, ph . 01-C-0125“非清髓性hla匹配异体干细胞移植治疗儿童造血恶性肿瘤的初步研究”，PI: Alan S. Wayne， M.D.c, 02-C-0052“遗传性骨髓衰竭综合征癌症易感性的病因学研究”，PI：Blanche Alter， M.D. M.P.H. d. 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， M.D.e. 04-C-0102《血液恶性肿瘤生物学研究》，PI: Alan S. Wayne， M.D.f. 04-C-0168《LMB-2治疗难治性cd25阳性白血病和淋巴瘤的儿科I期试验》，PI：Alan S. Wayne， M.D.g 4- c -0095“重度系统性红斑狼疮患者强化淋巴细胞清除后自体造血干细胞移植的初步研究”，PI: Steven Z. Pavletic, m.d.。这些研究中产生的细胞遗传学数据对患者的诊断、分类和治疗计划具有临床价值。它们对于监测患者对实验性治疗的反应以及与其他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关联，以及可能成为未来治疗目标的生物学机制。最后，该科成员在临床细胞遗传学服务和研究的原则和实践方面教授和指导学生、住院医生和研究员。除了指导三名暑期学生和两名博士后研究员外，Arthur博士还是NCI/CCR/LP住院医师、NCI/CCR/LP血液病理学研究员和NHGRI临床细胞遗传学Fe的成员

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 perform clinical translational cancer cytogenetics 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 80 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 NCI 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 Hospitals, and the Clinical Laboratory Improvement Act of 1988. We currently perform highly complex routine and molecular cytogenetic testing on patient samples from several institutes (NCI, NIAID, NICHD) and the Clinical Center Department of Laboratory Medicine. In greater than 80 percent of cases the testing is for acquired chromosome abnormalities in premalignant and malignant disorders, and in the remaining 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 in-situ hybridization (FISH), comparative genomic hybridization (CGH), and spectral karyotyping (SKY) analyses of patients entered on NCI clinical research protocols. Dr. Arthur is an Associate Investigator on seven 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. 01-C-0125 "Pilot Study of Non-myeloablative, HLA-matched Allogeneic Stem Cell Transplantation for Pediatric Hematopoietic Malignancies," PI: Alan S. Wayne, M.D.c. 02-C-0052 "Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes," PI: Blanche Alter, M.D. M.P.H. d. 04-C-0079 "Pediatric Phase I Trial of BL22 for Refractory CD22-Positive Leukemias and Lymphomas," PI: Alan S. Wayne, M.D.e. 04-C-0102 "Hematologic Malignancy Biology Study," PI: Alan S. Wayne, M.D.f. 04-C-0168 "Pediatric Phase I Trial of LMB-2 for Refractory CD25-Positive Leukemias and Lymphomas," PI: Alan S. Wayne, M.D.g. 04-C-0095 "A Pilot Study of Intensified Lymphodepletion Followed by Autologous Hematopoietic Stem Cell Transplantation in Patients with Severe Systemic Lupus Erythematosus," PI: Steven Z. Pavletic, 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 treatment, 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 three 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 Fe