Schoumans Jacqueline, Suela Javier, Hastings Ros, Muehlematter Dominique, Rack Katrina, van den Berg Eva, Berna Beverloo H, Stevens-Kroef Marian
Unité De Génétique Du Cancer, Service De Génétique Médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, CH-1011, Switzerland.
Cytogenomics Laboratory, NIMGenetics, Madrid, Spain.
Genes Chromosomes Cancer. 2016 May;55(5):480-91. doi: 10.1002/gcc.22350. Epub 2016 Feb 23.
Genetic profiling is important for disease evaluation and prediction of prognosis or responsiveness to therapy in neoplasia. Microarray technologies, including array comparative genomic hybridization and single-nucleotide polymorphism-detecting arrays, have in recent years been introduced into the diagnostic setting for specific types of haematological malignancies and solid tumours. It can be used as a complementary test or depending on the neoplasia investigated, also as a standalone test. However, comprehensive and readable presentation of frequently identified complex genomic profiles remains challenging. To assist diagnostic laboratories, standardization and minimum criteria for clinical interpretation and reporting of acquired genomic abnormalities detected through arrays in neoplastic disorders are presented.
基因谱分析对于肿瘤疾病的评估以及预后或对治疗反应的预测非常重要。微阵列技术,包括阵列比较基因组杂交和单核苷酸多态性检测阵列,近年来已被引入特定类型血液系统恶性肿瘤和实体瘤的诊断领域。它可以用作补充检测,或者根据所研究的肿瘤,也可作为独立检测。然而,对频繁鉴定出的复杂基因组图谱进行全面且易于理解的呈现仍然具有挑战性。为帮助诊断实验室,本文提出了通过阵列检测到的肿瘤性疾病中获得性基因组异常的临床解释和报告的标准化及最低标准。