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多发性骨髓瘤中13号染色体长臂14区缺失与1号染色体异常的相关性

[Correlation between chromosome 13q14 deletion and 1q abnormality in multiple myeloma].

作者信息

Chen Li-juan, Li Jian-yong, Zhu Yu, Wang Xiao-wei, Qiu Hai-rong, Yang Rui-fang, Xu Wei, Xu Jia-ren, Lu Hua

机构信息

Department of Hematology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu, 210029 PR China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):102-5. doi: 10.3760/cma.j.issn.1003-9406.2009.01.024.

DOI:10.3760/cma.j.issn.1003-9406.2009.01.024
PMID:19199264
Abstract

OBJECTIVE

To investigate the correlation between chromosome 13q14 deletion [del(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 1q 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 1q were observed in 23 (47.9%) cases, among which 2 were 1q deletion and 21 were 1q duplication. The chromosome 1q abnormality was detected in 16 of the 22 cases of MM with del(13q14) and in 7 of the 26 cases of MM without del(13q14), and there was significant difference between the two groups (chi-square was 10.02, P was less than 0.01).

CONCLUSION

There is high frequency of chromosome 13q14 deletion and 1q abnormality in multiple myeloma. The chromosome 1q abnormalities are highly associated with 13q14 deletion.

摘要

目的

探讨多发性骨髓瘤(MM)中13号染色体长臂14区缺失[del(13q14)]与1号染色体异常之间的相关性。

方法

采用CD138和磁性细胞分选系统纯化48例初治MM患者的骨髓浆细胞,应用间期荧光原位杂交(I-FISH)技术,以D13S319探针检测分选的MM细胞中的del(13q14),以CEP1 SpectrumOrange探针检测1号染色体异常。

结果

48例MM患者中,22例(45.8%)存在del(13q14),23例(47.9%)存在1号染色体异常,其中2例为1号染色体缺失,21例为1号染色体重复。22例有del(13q14)的MM患者中16例检测到染色体1q异常,26例无del(13q14)的MM患者中7例检测到染色体1q异常,两组之间差异有统计学意义(χ² = 10.02,P < 0.01)。

结论

多发性骨髓瘤中13号染色体长臂14区缺失和1号染色体异常发生率较高。染色体1q异常与13q14缺失高度相关。

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Abnormalities of chromosome 1p/q are highly associated with chromosome 13/13q deletions and are an adverse prognostic factor for the outcome of high-dose chemotherapy in patients with multiple myeloma.1号染色体短臂/长臂异常与13号染色体/13号染色体长臂缺失高度相关,是多发性骨髓瘤患者大剂量化疗预后的不良因素。
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