Hematology Laboratory Service, ICO-Hospital GermansTrias i Pujol, Carretera de Canyet, s/n, 08916, Badalona, Barcelona, Spain.
MDS Research Group, Josep Carreras Leukaemia Research Institute, ICO-Hospital GermansTrias i Pujol, Universitat Autònoma de Barcelona, Carretera de Can Ruti, Camí de les escoles, s/n, 08916, Badalona, Barcelona, Spain.
Best Pract Res Clin Haematol. 2020 Sep;33(3):101196. doi: 10.1016/j.beha.2020.101196. Epub 2020 Jun 4.
Haematological neoplasms are characterised by the presence of recurrent chromosomal abnormalities, making cytogenetics essential for establishing the diagnosis and prognosis. Chromosome banding analysis is mandatory for chronic myeloid leukaemia, neoplasms with eosinophilia, myelodysplastic syndromes and acute leukaemias. In contrast, in other myeloid neoplasms, chronic lymphocytic leukaemia, non-Hodgkin lymphoma and multiple myeloma, the study must be complemented with fluorescence in situ hybridization and/or microarrays, which can overcome some of the shortcomings of banding analysis to identify potential cryptic alterations or reciprocal translocations. In the genomic era, novel technologies such as next generation sequencing are now being used in clinical routine analysis, since they offer the possibility of studying mutations and copy number alterations in a single study at a higher resolution and/or sensitivity. However, they require highly qualified staff and further standardisation, especially regarding data analysis, thereby limiting their current applicability.
血液系统肿瘤的特征是存在反复出现的染色体异常，因此细胞遗传学对于确立诊断和预后至关重要。染色体带分析对于慢性髓性白血病、嗜酸粒细胞增多症肿瘤、骨髓增生异常综合征和急性白血病是强制性的。相比之下，在其他髓系肿瘤、慢性淋巴细胞白血病、非霍奇金淋巴瘤和多发性骨髓瘤中，必须通过荧光原位杂交和/或微阵列来补充研究，这可以克服带分析的一些缺点，以识别潜在的隐匿性改变或相互易位。在基因组时代，下一代测序等新技术现在已在临床常规分析中使用，因为它们提供了在单一研究中以更高的分辨率和/或灵敏度研究突变和拷贝数改变的可能性。然而，它们需要高度合格的人员和进一步的标准化，特别是在数据分析方面，从而限制了它们目前的适用性。
