Zhu J, Liu L, Chen X, Liu F, Zhao S S, Jin H M, Qiu H R, Qiao C, Li J Y, Wu Y J
Department of Clinical Laboratory, The Cancer Hospital of the University of Chinese Academy of Sciences (Zhejiang Cancer Hospital) , Institute of Basic Medicine and Cancer (IBMC) , Chinese Academy of Sciences, Hangzhou 310022, China.
The First Affiliated Hospital of Nanjing Medical University, Department of Hematology, Jiangsu Province Hospital, Nanjing 210029, China.
Zhonghua Xue Ye Xue Za Zhi. 2022 Jun 14;43(6):463-468. doi: 10.3760/cma.j.issn.0253-2727.2022.06.004.
To explore the correlation of CD49d expression patterns with molecular genetics and hotspot gene mutants in patients with chronic lymphocytic leukemia. The expression of CD49d was detected by flow cytometry and grouped into homogeneous, bimodal, negative and positive expression. Panel fluorescence in situ hybridization (FISH) was used for molecular genetics analysis and next-generation sequencing (NGS) was conducted for gene mutation detection. There were 43 patients (23.89% ) with positive CD49d expression, 137 patients (76.11% ) with negative CD49d expression, 96 patients (53.33% ) with homogeneous CD49d expression and 84 patients (46.67% ) with bimodal CD49d expression. Compared with patients in the CD49d negative group, patients in the CD49d positive group had higher Rai stage (=0.048) and higher proportion of spleen enlargement (=0.030) . Compared with patients with homogeneous expression of CD49d, patients with bimodal expression of CD49d had a higher proportion of spleen enlargement (=0.009) . The expression rate of 11q22- in bimodal CD49d(-) group was significantly higher than that in homogeneous CD49d(-) group (24.29% 10.45% , =0.043) . The incidence of +12 in homogeneous CD49d group was higher than that in bimodal CD49d group (16.67% 5.95% , =0.035) . The incidence of +12 in homogeneous CD49d(+) group was higher than that in bimodal CD49d(-) group (17.24% 4.29% , =0.045) . The incidence of +12 in homogeneous CD49d(-) group was higher than that in bimodal CD49d(-) group (16.42% 4.29% , =0.024) . BIRC3 mutation rate in CD49d positive group was higher than that in CD49d negative group (11.63% 2.92% , =0.037) . There were significant correlations between CD49d and 11q22-, +12 and BIRC3 gene mutation. Patients with bimodal CD49d were more correlated with poor prognosis indexes.
探讨慢性淋巴细胞白血病患者CD49d表达模式与分子遗传学及热点基因突变的相关性。采用流式细胞术检测CD49d的表达,并分为均匀表达、双峰表达、阴性表达和阳性表达。采用荧光原位杂交(FISH)进行分子遗传学分析,采用二代测序(NGS)进行基因突变检测。CD49d阳性表达患者43例(23.89%),CD49d阴性表达患者137例(76.11%),CD49d均匀表达患者96例(53.33%),CD49d双峰表达患者84例(46.67%)。与CD49d阴性组患者相比,CD49d阳性组患者的Rai分期更高(=0.048),脾肿大比例更高(=0.030)。与CD49d均匀表达患者相比,CD49d双峰表达患者的脾肿大比例更高(=0.009)。双峰CD49d(-)组中11q22-的表达率显著高于均匀CD49d(-)组(24.29%对10.45%,=0.043)。均匀CD49d组中+12的发生率高于双峰CD49d组(16.67%对5.95%,=0.035)。均匀CD49d(+)组中+12的发生率高于双峰CD49d(-)组(17.24%对4.29%,=0.045)。均匀CD49d(-)组中+12的发生率高于双峰CD49d(-)组(16.42%对4.29%,=0.024)。CD49d阳性组的BIRC3突变率高于CD49d阴性组(11.63%对2.92%,=0.037)。CD49d与11q22-、+12及BIRC3基因突变之间存在显著相关性。双峰CD49d患者与不良预后指标的相关性更强。