慢性淋巴细胞白血病CD49d表达模式与分子遗传学和热点突变基因的相关性

OBJECTIVE: To explore the correlation of CD49d expression patterns with molecular genetics and hotspot gene mutants in patients with chronic lymphocytic leukemia. METHODS: 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. RESULTS: 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 (P＝0.048) and higher proportion of spleen enlargement (P＝0.030). Compared with patients with homogeneous expression of CD49d, patients with bimodal expression of CD49d had a higher proportion of spleen enlargement (P＝0.009). The expression rate of 11q22− in bimodal CD49d(−) group was significantly higher than that in homogeneous CD49d(−) group (24.29％ vs 10.45％, P＝0.043). The incidence of +12 in homogeneous CD49d group was higher than that in bimodal CD49d group (16.67％ vs 5.95％, P＝0.035). The incidence of +12 in homogeneous CD49d(+) group was higher than that in bimodal CD49d(−) group (17.24％ vs 4.29％, P＝0.045). The incidence of +12 in homogeneous CD49d(−) group was higher than that in bimodal CD49d(−) group (16.42％ vs 4.29％, P＝0.024). BIRC3 mutation rate in CD49d positive group was higher than that in CD49d negative group (11.63％ vs 2.92％, P＝0.037). CONCLUSION: There were significant correlations between CD49d and 11q22−, +12 and BIRC3 gene mutation. Patients with bimodal CD49d were more correlated with poor prognosis indexes.