Abstract:
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.
摘要:
尽管分子评估的出现,条带化细胞遗传学和荧光原位杂交(FISH)在慢性髓性白血病(CML)的诊断和预后方法中仍有重要作用.涵盖的领域:在诊断和酪氨酸激酶抑制剂(TKIs)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),以及在5-10%的病例中可能出现的任何额外或其他染色体畸变(ACA和OCA),后者与爆炸阶段的疾病转化有关。在这次审查中,我们通过对这些工具在CML治疗和监测中的预后影响的已发表论文进行综述,讨论了细胞遗传学和FISH条带的潜在作用.专家评论:细胞遗传学技术,包括条带细胞遗传学和FISH,继续在CML监测中发挥关键作用。在诊断时和治疗3个月后,条带细胞遗传学将继续是一项必不可少的测试,但它将成为多余后,主要分子反应(MMR)的分子技术评估的成就。FISH分析仅在特殊情况下在监测对TKI的响应方面保持其有用性。