A Retrospective Analysis of Cytogenetic and Clinical Characteristics in Patients With Multiple Myeloma
A Retrospective Analysis of Cytogenetic and Clinical Characteristics in Patients With Multiple Myeloma
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多发性骨髓瘤患者细胞遗传学和临床特征的回顾性分析
DOI：
10.1097/maj.0b013e31825b32bc
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发表时间：
2013-02-01
影响因子：
3.1
通讯作者：
Cai, Zhen
中科院分区：
文献类型：
--
作者：
He, Jingsong;Yang, Li;Cai, Zhen
背景：多发性骨髓瘤（MM）患者的细胞遗传学改变是影响预后的重要危险因素。在这项研究中，研究了MM细胞遗传学畸变对患者临床特征和预后的影响。方法：对65例患者骨髓有核细胞进行常规细胞遗传学分析和间期荧光原位杂交（FISH）分子细胞遗传学分析，检测17p13和13q14缺失、14q32重排和1q21扩增等染色体异常排列。结果：16.9%的患者在常规细胞遗传学分析中出现畸变，49.2%的患者在间期FISH分析中出现畸变。13q14、1q21、14q32和17p13的异常检出率分别为27.7%、13.8%、16.9%和29.2%。13q14缺失或合并17p13缺失的患者通常处于疾病晚期，且血清中&bgr；2微球蛋白和较低水平的白蛋白。fish阳性患者的无进展生存期和总生存期低于未检测到异常的患者，特别是在常规化疗组。结论：这些发现表明，骨髓瘤细胞容易表现出复杂的畸变，FISH优于传统的细胞遗传学分析，对染色体异常的检出率更高。17p13或13q14缺失、14q32重排和1q21扩增的患者更有可能有不良的MM预后。
Background:Cytogenetic alterations in patients with multiple myeloma (MM) represent important risk factors in terms of prognosis. In this study, the impact of the cytogenetic aberrations of MM on patient clinical features and outcome was investigated. Methods:Conventional cytogenetic analysis with R-banding technique and molecular cytogenetic characterization by interphase fluorescence in situ hybridization (FISH) were used to detect aberrant chromosomal arrangements, including 17p13 and 13q14 deletions, 14q32 rearrangement and 1q21 amplification, in bone marrow nucleated cells from 65 patients. Results:About 16.9% of patients showed aberrations by conventional cytogenetic analysis, whereas 49.2% of patients showed aberrations by interphase FISH analysis. Abnormalities of 13q14, 1q21, 14q32 and 17p13 were detected in 27.7%, 13.8%, 16.9% and 29.2%, respectively. Patients with a 13q14 deletion or combined with 17p13 deletion frequently had a late stage of the disease, and tended to have elevated serum levels of &bgr;2 microglobulin and lower levels of albumin. The progression-free survival and overall survival of FISH-positive patients were lower than for those without detectable abnormalities, especially in the conventional chemotherapy arm. Conclusions:These findings demonstrate that myeloma cells are prone to exhibiting a complex aberration and that FISH is superior to conventional cytogenetic analysis with a higher detection rate of chromosomal abnormalities. Patients with a 17p13 or 13q14 deletion, 14q32 rearrangement and 1q21 amplification were more likely to have a poor prognosis for MM.