Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, The University of Missouri Medical School Kansas City, Kansas City, Missouri, USA.
Genet Med. 2009 Dec;11(12):890-7. doi: 10.1097/GIM.0b013e3181bb7808.
: Cytogenetic analysis of tumor tissue detects clonal abnormalities. The information obtained from these studies is utilized for diagnosis, prognosis, and patient management.
: The Working Group of the Laboratory Quality Assurance Committee of the American College of Medical Genetics provides these Standards and Guidelines for chromosome studies for solid tumors abnormalities as a resource for clinical cytogenetic laboratories.
: The guidelines incorporate aspects of sample procurement, handling, processing, harvesting, analysis, quality control, and quality assurance. It is recommended that all pediatric solid tumors be studied by cytogenetic analysis when feasible due to the clinical and therapeutic implications of the genetic abnormalities. Cytogenetic analysis of certain adult solid tumors also provides information that impacts diagnosis and therapeutics. Molecular cytogenetic analysis or fluorescence in situ hybridization (FISH) may be a primary or secondary method of evaluation of the tumor tissue. FISH can document a specific molecular event, e.g. gene rearrangement, provide a rapid result to aid in the differential diagnosis or planning of therapy, clarify chromosome anomalies, or assess gene amplification.
: Genetic analysis adds valuable information to the understanding of and therapeutic approach to solid tumors. Laboratories may use their professional judgment to make modifications or additions to these guidelines.
肿瘤组织的细胞遗传学分析可检测克隆异常。从这些研究中获得的信息可用于诊断、预后和患者管理。
美国医学遗传学学院实验室质量保证委员会工作组提供这些固体肿瘤异常染色体研究标准和指南，作为临床细胞遗传学实验室的资源。
这些指南包含样本获取、处理、加工、采集、分析、质量控制和质量保证的各个方面。鉴于遗传异常对临床和治疗的影响，建议在可行的情况下对所有儿科实体瘤进行细胞遗传学分析。某些成人实体瘤的细胞遗传学分析也提供了影响诊断和治疗的信息。分子细胞遗传学分析或荧光原位杂交（FISH）可能是肿瘤组织评估的主要或次要方法。FISH 可以记录特定的分子事件，例如基因重排，提供快速结果以辅助鉴别诊断或治疗计划，阐明染色体异常，或评估基因扩增。
遗传分析为理解和治疗实体瘤提供了有价值的信息。实验室可以根据自己的专业判断对这些指南进行修改或补充。
