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目的研究急性B淋巴细胞白血病(B-ALL)中免疫球蛋白重链基因(IgH)重排的发生率,并分析其临床特点及其他细胞遗传学特征。方法选取158例初诊B-ALL患者的骨髓标本,应用短期培养法制备染色体悬液,采用R显带技术进行核型分析。选用位于14q32 IgH基因两端的序列特异性探针,应用荧光原位杂交技术(FISH)对158例患者的染色体悬液进行IgH基因重排检测。结果 158例中,检出IgH基因重排阳性11例(6.9%),其阳性细胞比例为10.5%～88.2%。结合染色体核型分析发现,11例中同时伴随染色体核型异常的有9例,其中8例为复杂异常。9例染色体异常病例中明确累及14q32的有5例。不同染色体核型异常患者IgH基因重排阳性率差异有统计学意义(P<0.05),其中染色体复杂异常患者IgH基因重排阳性率(14.5%)高于正常核型(3.8%)及非复杂异常(1.9%)。而不同性别、年龄及不同白细胞、血红蛋白、血小板水平患者IgH基因重排阳性率差异均无统计学意义(均P>0.05)。结论 IgH基因重排在B-ALL中有较高的发生率。FISH技术以其较高的敏感性和特异性对提高IgH基因重排的检出率起着重要的作用。
Objective To study the incidence of immunoglobulin heavy chain gene (IgH) rearrangements in acute B lymphoblastic leukemia (B-ALL) and analyze its clinical features and other cytogenetic features. Methods Bone marrow samples of 158 newly diagnosed B-ALL patients were selected. Chromosome suspensions were prepared by short-term culture and analyzed by R-banding technique. Sequence-specific probes located at both ends of the 14q32 IgH gene were used to detect chromosomal rearrangements of IgH in 158 patients by fluorescence in situ hybridization (FISH). Results Among the 158 cases, 11 cases (6.9%) were positive for IgH gene rearrangement, and the percentage of positive cells was 10.5% ~ 88.2%. Combined with chromosome karyotype analysis found that 11 cases accompanied by chromosomal abnormalities in 9 cases, of which 8 cases were complex abnormalities. Of the 9 cases of chromosomal abnormalities, 5 cases were definitely involved in 14q32. The positive rate of IgH gene rearrangement in patients with different chromosomal abnormalities was statistically significant (P <0.05). The positive rate of IgH gene rearrangement in patients with complex chromosomal abnormalities (14.5%) was higher than that of normal karyotype (3.8%) and non-complex Abnormal (1.9%). There was no significant difference in the positive rate of IgH gene rearrangement between different gender, age, different white blood cells, hemoglobin and platelet (all P> 0.05). Conclusion The IgH gene rearrangement has a high incidence in B-ALL. FISH technology with its high sensitivity and specificity to improve the detection rate of IgH gene rearrangement plays an important role.