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目的研究多发性骨髓瘤(MM)患者13号染色体长臂特定位点的缺失及与临床表现、预后的关系。方法采用荧光原位杂交技术检测68例MM患者骨髓标本中Rb-1基因和13q14.3位点的缺失,结合临床资料作统计分析。结果13号染色体部分缺失的总检出率为51%(35/68),其中Rb-1基因缺失43%(29/68),13q14.3位点缺失为52%(23/44),两位点同时缺失者66%(29/44)。卡方检验分析显示13号染色体部分缺失与患者起病时多种临床特征及早期疗效、1年生存率有关。结论Rb-1基因和13q14.3位点的缺失在MM中均较为常见,13号染色体部分缺失对MM的生物学行为有一定影响。
Objective To study the deletion of specific long arm on chromosome 13 in patients with multiple myeloma (MM) and its relationship with clinical manifestations and prognosis. Methods Fluorescence in situ hybridization was used to detect the deletion of Rb-1 gene and 13q14.3 in bone marrow of 68 patients with MM. The clinical data were used for statistical analysis. Results The overall detection rate of partial deletion of chromosome 13 was 51% (35/68), of which, 43% (29/68) were deleted in Rb-1 gene and 52% (23/44) in 13q14.3, 66% (29/44) were also missing at the same site. Chi-square test showed that the deletion of chromosome 13 was associated with multiple clinical features and early efficacy and 1-year survival rate. Conclusion The deletion of Rb-1 gene and 13q14.3 locus are more common in MM. The partial deletion of chromosome 13 has certain influence on the biological behavior of MM.