Department of Pathology, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.
The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
Genet Med. 2024 Apr;26(4):101070. doi: 10.1016/j.gim.2024.101070. Epub 2024 Feb 20.
Clinical cytogenomic studies of solid tumor samples are critical to the diagnosis, prognostication, and treatment selection for cancer patients. An overview of current cytogenomic techniques for solid tumor analysis is provided, including standards for sample preparation, clinical and technical considerations, and documentation of results. With the evolving technologies and their application in solid tumor analysis, these standards now include sequencing technology and optical genome mapping, in addition to the conventional cytogenomic methods, such as G-banded chromosome analysis, fluorescence in situ hybridization, and chromosomal microarray analysis. This updated Section E6.7-6.12 supersedes the previous Section E6.5-6.8 in Section E: Clinical Cytogenetics of the American College of Medical Genetics and Genomics Standards for Clinical Genetics Laboratories.
临床实体瘤样本细胞遗传学研究对于癌症患者的诊断、预后和治疗选择至关重要。本文概述了当前用于实体瘤分析的细胞遗传学技术，包括样本制备标准、临床和技术注意事项以及结果记录。随着技术的不断发展及其在实体瘤分析中的应用，这些标准现在包括测序技术和光学基因组图谱，除了传统的细胞遗传学方法，如 G 带染色体分析、荧光原位杂交和染色体微阵列分析。本更新的第 E6.7-6.12 节取代了美国医学遗传学与基因组学学院临床遗传学实验室标准（ACMG）的第 E6.5-6.8 节中的先前第 E6.5 节。
