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；开展肿瘤细胞遗传学临床转化研究；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。该项目占该部门工作的70%，其目标是为NCI和其他研究所医生进入临床研究协议的患者样本提供诊断服务和研究测试，合作制定NCI临床转化研究协议，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院、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。目前，我们对来自多个研究所（NCI、NIAID、NHLBI、NHGRI、NIAMS、NIDDK和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90%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。科室成员对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博士是以下八个活跃方案的副研究员：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，临床前骨髓移植/免疫治疗研究，PI; Wyndham Wilson， M.D，博士；b - 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. 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， M.D. d. 04-C-0102血液恶性肿瘤生物学研究，PI: Alan S. Wayne， M.D. e. 08-H-0105“单克隆B细胞淋巴细胞增多症（MBL）和慢性淋巴细胞白血病/小淋巴细胞淋巴瘤（CLL/SLL）的自然史研究”，PI: Adrian Wiestner， M.D. f. 10-C-0079“AZD6244治疗多发性骨髓瘤的2期研究”，PI：Ola Landgren， M.D, ph . 10-C-0096《未确定意义的单克隆γ病（MGUS）和阴熏骨髓瘤（SMM）的自然史研究》，PI: Ola Landgren， M.D, ph . 10-H-0141《基于Ofatumumab的诱导化疗和巩固Ofatumumab免疫治疗先前未治疗的慢性淋巴细胞白血病/小淋巴细胞淋巴瘤患者的II期研究》，PI：作为这些研究的一部分产生的细胞遗传学数据在临床上对患者的诊断、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住院医师、NCI/CCR/LP血液病理学研究员和NHGRI临床细胞遗传学研究员。在这个职位上，她为所有参加这些培训项目的住院医生和研究员提供教学讲座和实验室轮转。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提供必要的教育和服务，并为NCI临床和转化研究项目提供广泛的合作支持。

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 perform collaborative 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 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 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 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 greater than 90 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 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 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 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.