The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Genet Med. 2024 Apr;26(4):101054. doi: 10.1016/j.gim.2023.101054. Epub 2024 Feb 13.
Cytogenomic analyses of acquired clonal chromosomal abnormalities in neoplastic blood, bone marrow, and/or lymph nodes are instrumental in the clinical management of patients with hematologic neoplasms. Cytogenetic analyses assist in the diagnosis of such disorders and can provide important prognostic information. Furthermore, cytogenetic studies can provide crucial information regarding specific genetically defined subtypes of these neoplasms that may have targeted therapies. At time of relapse, cytogenetic analysis can confirm recurrence of the original neoplasm, detect clonal disease evolution, or uncover a new unrelated neoplastic process. This section deals specifically with the technical standards applicable to cytogenomic studies of acquired clonal chromosomal abnormalities in neoplastic blood, bone marrow, and/or lymph nodes. This updated Section E6.1-6.6 supersedes the previous Section E6 in Section E: Clinical Cytogenetics of the American College of Medical Genetics and Genomics Technical Standards for Clinical Genetics Laboratories.
获得性克隆染色体异常的细胞遗传学分析在血液、骨髓和/或淋巴结肿瘤患者的临床管理中具有重要作用。细胞遗传学分析有助于这些疾病的诊断，并能提供重要的预后信息。此外，细胞遗传学研究还可以提供这些肿瘤特定的、基因定义亚型的关键信息，这些亚型可能具有靶向治疗。在复发时，细胞遗传学分析可以确认原始肿瘤的复发，检测克隆疾病的演变，或揭示新的无关肿瘤过程。本节专门讨论适用于血液、骨髓和/或淋巴结肿瘤中获得性克隆染色体异常的细胞遗传学分析的技术标准。该更新的第 E6.1-6.6 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技术标准的第 E 节中的前第 E6 节。
