In this single center retrospective analysis on 102 CLL patients, we assessed analytical and clinical performance of CMA against a targeted FISH panel (ATM, TP53, CEP12, D13S319 and LAMP1 loci) and karyotyping. CMA yielded additional information compared to karyotype in 39 cases (38 %). On the other hand, while CMA detected aberrations were also detected by FISH in all 31 cases (30 %), aberrations with low clonal size (<30 %) detected by FISH were missed by CMA. When evaluated with National Cancer Center Network (NCCN) guidelines, the capture rate of prognostic relevant cytogenetic information for FISH only, FISH + Chromosomes and FISH + CMA analyses were 95, 96 and 100 % respectively. With Cancer Cytogenomics Consortium (CGC) Criteria, these figures for FISH only, FISH + Chromosomes and FISH + CMA were 88 %, 92 and 100 % respectively. In conclusion, CMA provides additional analytical information to FISH and karyotyping, but this information has a clinical utility only in a small number of patients. Limit of detection (LOD) issues preclude replacement of FISH by CMA, but CMA may be a viable alternative to karyotyping. Further research is warranted.

在102名上的CLL患者这个单中心回顾性分析，我们评估CMA的分析和临床表现针对靶向FISH面板（ATM，TP53，CEP12，D13S319和LAMP1基因座）和核型分析。与 39 例 (38 %) 的核型相比，CMA 产生了额外的信息。另一方面，虽然 CMA 检测到的畸变也被 FISH 在所有 31 例 (30%) 中检测到，但 FISH 检测到的低克隆大小 (<30%) 的畸变被 CMA 遗漏了。根据美国国家癌症中心网络 (NCCN) 指南进行评估时，仅 FISH、FISH + 染色体和 FISH + CMA 分析的预后相关细胞遗传信息的捕获率分别为 95%、96% 和 100%。根据癌症细胞基因组学联盟 (CGC) 标准，仅 FISH、FISH + 染色体和 FISH + CMA 的这些数字分别为 88%、92% 和 100%。总之，CMA 为 FISH 和核型分析提供了额外的分析信息，但这些信息仅在少数患者中具有临床效用。检测限 (LOD) 问题阻止了 CMA 替代 FISH，但 CMA 可能是核型分析的可行替代方案。有必要进一步研究。