Multiple Myeloma Treatment Center and Department of Hematology, the First Affiliated Hospital of Medical College, Zhejiang University, Hangzhou, China.
Am J Med Sci. 2013 Feb;345(2):88-93. doi: 10.1097/MAJ.0b013e31825b32bc.
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.
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.
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 β2 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.
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.
多发性骨髓瘤（MM）患者的细胞遗传学改变是预后的重要危险因素。在这项研究中，我们研究了 MM 患者的细胞遗传学异常对患者临床特征和结局的影响。
采用 R 带技术的常规细胞遗传学分析和间期荧光原位杂交（FISH）的分子细胞遗传学特征，检测骨髓有核细胞中异常染色体排列，包括 17p13 和 13q14 缺失、14q32 重排和 1q21 扩增，共检测 65 例患者。
约 16.9%的患者通过常规细胞遗传学分析发现异常，而 49.2%的患者通过间期 FISH 分析发现异常。13q14、1q21、14q32 和 17p13 的异常分别为 27.7%、13.8%、16.9%和 29.2%。13q14 缺失或与 17p13 缺失联合的患者常处于疾病晚期，且β2 微球蛋白血清水平升高，白蛋白水平降低。FISH 阳性患者的无进展生存期和总生存期均低于未检测到异常的患者，尤其是在常规化疗组。
这些发现表明骨髓瘤细胞容易出现复杂的异常，FISH 比常规细胞遗传学分析具有更高的染色体异常检出率。17p13 或 13q14 缺失、14q32 重排和 1q21 扩增的患者更有可能出现 MM 不良预后。
