荧光原位杂交技术在多发性骨髓瘤患者del(13q14)检测中的应用

 目的　了解多发性骨髓瘤（MM）患者中13号染色体缺失情况，分析13号染色体部分缺失在MM中的临床价值。方法　采用荧光原位杂交（FISH）技术检测38例MM患者骨髓标本中Rb-1基因和13q14位点的缺失；采用Fisher确切概率法分析13号染色体部分缺失与患者确诊时临床特征间关系。结果　在38例MM患者中，13号染色体部分缺失20 例，其中仅Rb-1基因缺失4例，仅13q14位点缺失2例，两位点同时缺失14例。Fisher确切概率法分析显示13号染色体长臂缺失（del 13q14）与患者血清乳酸脱氢酶升高及国际分期系统（ISS）有关。结论　Rb-1基因和13q14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，del (13q14)在 MM中的意义有待进一步探讨；FISH是一种在分析 MM患者13号染色体异常方面较为快速、准确和敏感的方法。

Utility of fluorescence in situ hybridization in the deletion of chromosome 13 in multiple myeloma and its clinical significance

Objective To explore the deletion of chromosome 13 in multiple myeloma (MM), clinical significance of FISH-defined partial deletion chromosome 13 in MM patients were investigate. Methods Fluorescence in situ hybridization (FISH ) was performed on bone marrow from 38 patients with MM to study the deletion of Rb-1 gene and locus 13q14 on chromosome 13. Fisher exact propability was used to study the relations between partial deletion of chromosome 13 and clinical features. Results 20 out of the 38 cases were found with deletion of chromosome 13; deletion of Rb-1 gene in 4 cases; deletion of locus 13q14 in 2 out of 38 cases; and 14 cases with both of deletions. Fisher exact propability showed that deletion of chromosome 13 was associated with hypso-serum lactic dehydrogenase, stage of ISS. Conclusion Deletion of Rb-1 gene and locus 13q14 were both common cytogenetic changes in MM patients with effect on the biological behavior of the disease, but the value of del (13q14) in MM needs further investigation. FISH was a rapid, accurate and sensitive technique in the analysis of del (13q14) in MM.