多发性骨髓瘤1q染色体异常与13q缺失的相关性研究

Correlation between chromosome 13q14 deletion and lq abnormality in multiple myeloma

目的探讨多发性骨髓瘤（multiple myeloma，MM）中13q4的缺失[del（13q14）]和1q染色体异常的相关性。方法应用CD138单克隆抗体磁珠分选系统纯化48例初治MM患者的骨髓浆细胞，结合Spectrum Orange^TM直接标记的位于13q14和1q12的序列特异性DNA探针和间期荧光原位杂交技术检测48例MM患者del（13q14）及1q染色体异常情况。结果48例MM患者中，用D13S319探针检测，del（13q14）异常22例（45．8％）；用CEP1探针检测，23例（47．9％）发现1q染色体异常。其中2例为1q缺失，21例为1q重复。22例伴有de1（13q14）MM患者中16例出现1q染色体异常；26例未检测到del（13q14）MM患者中仅7例发现1q染色体异常，经x^2检验两者间差异有统计学意义（红=10．02，P〈0．01）。结论del（13q14）及1q染色体异常在MM中的发生率较高，两者间存在高度相关性。

Objective To investigate the correlation between chromosome 13q4 deletion Edel （13q14）] and chromosome 1q abnormality in multiple myeloma （MM）. Methods The bone marrow plasma cells of 48 previously untreated MM patients were purified by CD138 and magnetic cell sorting system, and interphase fluorescence in situ hybridization （I-FISH） was applied to detect the del（13q14） with D13S319 probe and the abnormalities of chromosome lq with CEP1 SpectrumOrange probe in sorted MM cells. Results Among the 48 MM patients, del（13q14） was observed in 22 （45. 8%） cases; the abnormalities of chromosome lq were observed in 23 （47.9%） cases, among which 2 were lq deletion and 21 were 1q duplication. The chromosome lq abnormality was detected in 16 of the 22 eases of MM with del （13q4） and in 7 of the 26 cases of MM without del（13q14）, and there was significant difference between the two groups （x^2 = 10. 02, P〈0. 01）. Conclusion There is high frequency of chromosome 13q4 deletion and lq abnormality in multiple myeloma. The chromosome lq abnormalities are highly associated with 13q4 deletion.