a Hematology, Department of Cellular Biotechnologies and Hematology , Sapienza University , Rome , Italy.
Expert Rev Mol Diagn. 2017 Nov;17(11):1001-1008. doi: 10.1080/14737159.2017.1383156. Epub 2017 Sep 26.
Despite the advent of molecular assessment, banding cytogenetics and fluorescence in situ hybridization (FISH) still have a significant role in diagnostic and prognostic approaches to chronic myeloid leukaemia (CML). Area covered: At diagnosis and during treatment with tyrosine kinase inhibitors (TKIs), cytogenetics is used to detect the Philadelphia chromosome, with its typical translocation t(9;22)(q34;q11.2), and any additional or other chromosomal aberrations (ACAs and OCAs) that may arise in 5-10% of cases, the latter associated to transformation of the disease in blast phases. In this review, the potential role of banding cytogenetics and FISH is discussed through a review of published papers on the prognostic impact of these tools in CML treatment and monitoring. Expert commentary: Cytogenetic techniques, including banding cytogenetics and FISH, continue to maintain a crucial role in CML monitoring. At diagnosis and after 3 months of therapy, banding cytogenetics will continue to be an essential test to perform, but it will become redundant after the achievement of a major molecular response (MMR) assessed with molecular techniques. FISH analysis maintains its usefulness in monitoring the response to TKIs only in special situations.
尽管分子评估已经问世，但带型细胞遗传学和荧光原位杂交 (FISH) 在慢性髓系白血病 (CML) 的诊断和预后方法中仍具有重要作用。
在诊断时和接受酪氨酸激酶抑制剂 (TKI) 治疗期间，细胞遗传学用于检测费城染色体，其典型易位 t(9;22)(q34;q11.2)，以及可能在 5-10%的病例中出现的任何其他染色体异常 (ACAs 和 OCAs)，后者与疾病在 blast 期的转化相关。在这篇综述中，通过回顾发表的关于这些工具在 CML 治疗和监测中的预后影响的论文，讨论了带型细胞遗传学和 FISH 的潜在作用。
细胞遗传学技术，包括带型细胞遗传学和 FISH，在 CML 监测中继续发挥关键作用。在诊断时和治疗 3 个月后，带型细胞遗传学将继续是必需的检测，但在使用分子技术评估达到主要分子缓解 (MMR) 后，它将变得多余。FISH 分析在监测 TKI 反应方面仅在特殊情况下保持其有用性。
