Bommannan Karthik, Arumugam Jhansi Rani, Koshy Teena, Radhakrishnan Venkatraman, Sundersingh Shirley
Department of Oncopathology, Cancer Institute (W.I.A.), Chennai, 600020 India.
Department of Medical Oncology, Cancer Institute (W.I.A.), Chennai, 600020 India.
Indian J Hematol Blood Transfus. 2024 Apr;40(2):324-330. doi: 10.1007/s12288-023-01699-2. Epub 2023 Sep 26.
Leukemia-associated structural chromosomal abnormalities (SCA) can be identified either by karyotyping or interphase-fluorescence in-situ hybridization (i-FISH) assays. Both karyotyping and i-FISH on mononuclear cell suspension are time, resource, and manpower-consuming assays. In this study, we have compared the results of specific leukemia-associated SCAs identified by i-FISH on air-dried bone marrow (BM)/peripheral blood (PB) smears and BM karyotyping. The study was conducted among pediatric patients (age ≤ 18 years) diagnosed with acute leukemias between January 2018 to December 2022. The results of i-FISH on air-dried BM/PB smears and BM-karyotyping for our SCA of interest (::, ::, ::, rearrangement, ::, ::, and ::) were entered in a contingency table and the agreement of results was calculated. The strength of agreement was assessed by Cramer's V test. Among 270 patients, SCA of interest was identified among 26% and 17% of patients by i-FISH on air-dried smears and karyotyping, respectively. Excluding 53 patients with metaphase failure, the remaining 217 patients had 92% agreement (Cramer's V of 0.931 with < 0.000) between the results for specific SCAs identified by both techniques. On excluding samples with cryptic cytogenetic aberrancies, there was 99% agreement (Cramer's V of 0.953 with < 0.000) for gross SCA identified by both techniques. In addition, i-FISH on air-dried smears identified SCA in 30% of patients with metaphase failure. I-FISH on air-dried PB/BMA smears is a less-labor and resource-consuming assay. It can be considered an efficient alternative to conventional karyotyping for identifying specific SCA of interest in under-resourced laboratories.
The online version contains supplementary material available at 10.1007/s12288-023-01699-2.
白血病相关的结构性染色体异常（SCA）可通过核型分析或间期荧光原位杂交（i-FISH）检测来识别。对单核细胞悬液进行核型分析和i-FISH检测都耗费时间、资源和人力。在本研究中，我们比较了通过i-FISH在风干骨髓（BM）/外周血（PB）涂片上检测以及BM核型分析所识别的特定白血病相关SCA的结果。该研究在2018年1月至2022年12月期间被诊断为急性白血病的儿科患者（年龄≤18岁）中进行。将我们感兴趣的SCA（::、::、::、重排、::、::和::）在风干BM/PB涂片上的i-FISH结果和BM核型分析结果录入列联表，并计算结果的一致性。通过克莱默V检验评估一致性强度。在270例患者中，通过风干涂片上的i-FISH和核型分析分别在26%和17%的患者中识别出感兴趣的SCA。排除53例中期失败的患者后，其余217例患者中，两种技术所识别的特定SCA结果之间的一致性为92%（克莱默V值为0.931，<0.000）。排除具有隐匿细胞遗传学异常的样本后，两种技术所识别的明显SCA的一致性为99%（克莱默V值为0.953，<0.000）。此外，风干涂片上的i-FISH在30%中期失败的患者中识别出了SCA。风干PB/BMA涂片上的i-FISH检测是一种劳动力和资源消耗较少的检测方法。在资源匮乏的实验室中，它可被视为识别感兴趣的特定SCA的传统核型分析的有效替代方法。
在线版本包含可在10.1007/s12288-023-01699-2获取的补充材料。
