Tang Zhenya, Kanagal-Shamanna Rashmi, Tang Guilin, Patel Keyur, Medeiros L Jeffrey, Toruner Gokce A
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, United States.
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, United States.
Leuk Res. 2021 Sep;108:106616. doi: 10.1016/j.leukres.2021.106616. Epub 2021 May 13.
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.
在这项针对102例慢性淋巴细胞白血病（CLL）患者的单中心回顾性分析中，我们评估了染色体微阵列分析（CMA）相对于靶向荧光原位杂交（FISH）检测板（检测ATM、TP53、CEP12、D13S319和LAMP1基因座）和核型分析的分析性能及临床性能。与核型分析相比，CMA在39例（38%）患者中提供了额外信息。另一方面，虽然CMA检测到的畸变在所有31例（30%）患者中也能被FISH检测到，但CMA遗漏了FISH检测到的低克隆比例（<30%）的畸变。按照美国国立综合癌症网络（NCCN）指南评估时，仅FISH、FISH + 染色体分析以及FISH + CMA分析的预后相关细胞遗传学信息捕获率分别为95%、96%和100%。按照癌症细胞基因组学联盟（CGC）标准，仅FISH、FISH + 染色体分析以及FISH + CMA分析的这些数字分别为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实用性。检测限（LOD）问题使得CMA无法取代FISH，但CMA可能是核型分析的一个可行替代方法。有必要进行进一步研究。
