CAJ | 학술논문

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.
목적 료해다발성골수류(MM)환자중13호염색체결실정황,분석13호염색체부분결실재MM중적림상개치.방법 채용형광원위잡교(FISH)기술검측38례MM환자골수표본중Rb-1기인화13q14위점적결실;채용Fisher학절개솔법분석13호염색체부분결실여환자학진시림상특정간관계.결과 재38례MM환자중,13호염색체부분결실20례,기중부Rb-1기인결실4례,부13q14위점결실2례,량위점동시결실14례.Fisher학절개솔법분석현시13호염색체장비결실(del 13q14)여환자혈청유산탈경매승고급국제분기계통(ISS)유관.결론 Rb-1기인화13q14위점적결실재MM중균교위상견,13호염색체부분결실대MM적생물학행위유일정영향,del(13q14)재MM중적의의유대진일보탐토;FISH시일충재분석MM환자13호염색체이상방면교위쾌속、준학화민감적방법.
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.