Liu H F, Huang H W, Bai S X, Gong Y L, Wu C X, Jin Z M, Wang Y Y, Yang Q, Zhang J, Qiu H Y, Chen S N, Pan J L
Department of Hematology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
Zhonghua Xue Ye Xue Za Zhi. 2020 Feb 14;41(2):143-148. doi: 10.3760/cma.j.issn.0253-2727.2020.02.011.
To study the value of unmethylated cytosine guanine dinucleotide oligodeoxynucleotide (DSP30) and IL-2 in the conventional cytogenetic (CA) detection of the chromosomal aberrations in chronic lymphocytic leukemia (CLL) . Bone marrow or peripheral blood cells of CLL patients were cultured with DSP30 plus IL-2 for 72 h, following which R-banding analysis was conducted. Fluorescence in situ hybridization (FISH) was performed in 85 patients. CA results were compared with data obtained by FISH. Among 89 CLL patients, the success rate of chromosome analysis was 94.38% (84/89) . Clonal aberrations were detected in 51 patients (51/84, 60.71%) . Of them, 27 (27/51, 52.94%) were complex karyotype. Among 85 CLL patients tested by FISH, chromosomal abnormalities were detected in 74 (74/85, 87.06%) patients, of which 2 (2/74) patients were complex karyotypes, accounting for 2.70%. Of the 85 CLL patients examined by FISH, 50 had abnormal karyotype analysis, 30 had normal karyotype, 5 failed to have chromosome analysis. Among them, 25 cases showed clonal aberrations by FISH assay but normal by CA, and 4 cases were normal by FISH but displayed aberrations in chromosome analysis, and totally 78 (91.76%) cases with abnormality detected by the combination of the two methods. The frequency of 13q- abnormality detected by FISH was significantly higher than that by CA analysis (69.41% 16.67%, <0.001) , while the frequency of 11q-,+12 and 17p- detected by two methods showed no significant difference (>0.05) . The detection rate of complex abnormalities in conventional karyotype analysis was higher than that in FISH (50.98% 2.70%) . In addition, 11 low-risk and 9 intermediate-risk patients according to FISH results showed complex karyotype by cytogenetics, and were classified into high-risk cytogenetic subgroup. DSP30 and IL-2 are effective in improving the detection rate of CA in CLL patients (60.71%) and CA is more effective to detect complex karyotype. However, FISH had a higher overall abnormality detection rate (87.06%) than CA, especially for 13q-. The combination of CA and FISH not only enhanced the detection rate of clonal aberrations to 91.76%, but also provided more precise prognosis stratification for CLL patients, thus to provide more information for clinical implication.
研究未甲基化胞嘧啶鸟嘌呤二核苷酸寡脱氧核苷酸（DSP30）和白细胞介素-2（IL-2）在慢性淋巴细胞白血病（CLL）染色体畸变的传统细胞遗传学（CA）检测中的价值。将CLL患者的骨髓或外周血细胞与DSP30加IL-2一起培养72小时，随后进行R显带分析。对85例患者进行荧光原位杂交（FISH）检测。将CA结果与FISH获得的数据进行比较。89例CLL患者中，染色体分析成功率为94.38%（84/89）。51例患者（51/84，60.71%）检测到克隆性畸变。其中，27例（27/51，52.94%）为复杂核型。在85例接受FISH检测的CLL患者中，74例（74/85，87.06%）检测到染色体异常，其中2例（2/74）为复杂核型，占2.70%。在85例接受FISH检测的CLL患者中，50例核型分析异常，30例核型正常，5例未能进行染色体分析。其中，25例FISH检测显示克隆性畸变但CA检测正常，4例FISH检测正常但染色体分析显示畸变，两种方法联合检测到异常的病例共78例（91.76%）。FISH检测到的13q-异常频率显著高于CA分析（69.41%比16.67%，P<0.001），而两种方法检测到的11q-、+12和1十七p-频率无显著差异（P>0.05）。传统核型分析中复杂异常的检出率高于FISH（50.98%比2.70%）。此外，根据FISH结果，11例低风险和9例中风险患者经细胞遗传学检测显示为复杂核型，被归类为高风险细胞遗传学亚组。DSP30和IL-2可有效提高CLL患者CA的检出率（60.71%），且CA对检测复杂核型更有效。然而，FISH的总体异常检出率（87.06%）高于CA检测，尤其是对于13q-。CA与FISH联合使用不仅将克隆性畸变的检出率提高到91.76%，还为CLL患者提供了更精确的预后分层，从而为临床应用提供更多信息。
