Zhang Hai-Ying, Yang Yan-Li, Zhao Qiang, Zhang Jing, Bai Hai
Department of Pathology, The 940th Hospital of Joint Logistic Support of Chinese PLA,Lanzhou 730050, Gansu Province, China.
Department of Hematology, The 940th Hospital of Joint Logistic Support of Chinese PLA, Lanzhou 730050, Gansu Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2020 Oct;28(5):1474-1479. doi: 10.19746/j.cnki.issn.1009-2137.2020.05.008.
To investigate the value of fluorescence in situ hybridization (FISH) in the diagnosis and prognosis evaluation of patients with chronic lymphocytic leukemia (CLL).
Ninty-three patients with newly diagnosed CLL were tested by five probes including RB1 (13q14.1), D13S25 (13q14.3), p53(17p13.1), ATM( 11q22.3) and CSP12, while conventional cytogenetics (CC) was used for karyotype analysis. Then the correlation of the molecular cytogenetic abnormalities with the clinical Binet stages, Rai stages and the other related laboratory examinations was analyzed.
The detection rate of chromosome abnormality in 93 patients was 79.6%, out of which detection rate of 13q (13q- was the highest and accounted for 45.2%), followed by trisomy 12 (+12) 26.9%, p53 deletion (17p-) 19.4% and ATM deletion (11p-) 17.2%. There were 27 cases (29.0%) with 2 or more abnormalities, including 13 cases with 13q-/17q-, 5 with 13q-/11q-, and 4 with 13q-/+12. Compared with CC test results, the positive rate of FISH detection was significantly higher (χ=32.127, P＜0.01). There was no significant correlation between FISH results and Rai stages (P＞0.05), meanwhile 17p- highly correlated with later stage of the Binet stages (P=0.012). The molecular cytogenetic abnormalities significantly correlated with age, absolute value of peripheral lymphocyte count and CD38 expression level (P＞0.05). The incidence of 13q- in female (65.4%) was statistically significantly higher than that in male (37.3%) (P=0.015). The unmutated IGHV rate of CLL patients with a 17p- was significantly higher than that in patients without this genetic abnormality (P=0.013). The expression of CD38 was detected among 29.0% of the patients, which significantly correlated with Binet stages (P=0.027) and unmutated IGHV (P=0.006).
FISH can greatly increase the detection rate of molecular cytogenetic abnormalities in CLL patients, which, as a powerful supplement to the conventional cytogenetics, can be applied for the clinical staging and prognosis evaluation of CLL patients.
探讨荧光原位杂交（FISH）技术在慢性淋巴细胞白血病（CLL）患者诊断及预后评估中的价值。
采用RB1（13q14.1）、D13S25（13q14.3）、p53（17p13.1）、ATM（11q22.3）及CSP12五种探针检测93例初诊CLL患者，同时采用传统细胞遗传学（CC）方法进行核型分析。分析分子细胞遗传学异常与临床Binet分期、Rai分期及其他相关实验室检查的相关性。
93例患者染色体异常检出率为79.6%，其中13q（13q-）检出率最高，占45.2%，其次为12号染色体三体（+12）26.9%、p53缺失（17p-）19.4%、ATM缺失（11p-）17.2%。27例（29.0%）患者存在2种或以上异常，包括13例13q-/17q-、5例13q-/11q-、4例13q-/+12。与CC检测结果相比，FISH检测阳性率显著更高（χ=32.127，P＜0.01）。FISH结果与Rai分期无显著相关性（P＞0.05），而17p-与Binet分期晚期高度相关（P=0.012）。分子细胞遗传学异常与年龄、外周血淋巴细胞绝对值及CD38表达水平显著相关（P＞0.05）。13q-在女性中的发生率（65.4%）显著高于男性（37.3%）（P=0.015）。17p-的CLL患者未突变IGHV率显著高于无此基因异常的患者（P=0.013）。29.0%的患者检测了CD38表达，其与Binet分期（P=0.027）及未突变IGHV（P=0.006）显著相关。
FISH可显著提高CLL患者分子细胞遗传学异常的检出率，作为传统细胞遗传学的有力补充，可用于CLL患者的临床分期及预后评估。
