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异常细胞遗传学对多发性骨髓瘤预后的影响:中国多中心研究。

Prognostic power of abnormal cytogenetics for multiple myeloma: a multicenter study in China.

机构信息

Peking University People's Hospital, Peking University Institute of Hematology, Beijing 100044, China.

出版信息

Chin Med J (Engl). 2012 Aug;125(15):2663-70.

Abstract

BACKGROUND

Chromosomal abnormalities have been shown to play an important prognostic role in multiple myeloma (MM). Interphase fluorescence in situ hybridization (i-FISH) has been much more effective to identify cytogenetic aberrations in MM than conventional cytogenetic technique (CC). To clearly determine the cytogenetic features of Chinese MM patients and identify their prognostic implications, we designed a multicenter study based on i-FISH including 672 patients from 52 hospitals in China.

METHODS

All 672 patients were systematically screened for the following genomic aberrations: del(13q), IgH rearrangement, del(p53) and 1q21 amplifications.

RESULTS

The analysis showed that the chromosomal changes were detected in 22.1% patients by CC and in 82.3% patients by i-FISH. The most common abnormalities by CC were chromosome 1 aberrations (48.4%), -13/13q- (37.6%), hyperdiploidy (36.6%), hypodiploidy (30.1%) and IgH rearrangements (23.7%). The most frequent abnormalities by FISH was del(13q), which was found in 60.4% patients, whereas IgH rearrangement, 1q21 amplification and p53 deletions were detected in 57.6%, 49.0% and 34.7% cases, respectively. By statistical analysis, -13/13q- by CC was associated with low level of platelet (P = 0.015), hyperdiploidy was associated with low level of serum albumin (P = 0.028), and IgH rearrangement by FISH was associated with high level of β2 microglobulin (P = 0.019). Moreover, 1q21 amplification and del(p53) by FISH conferred a high incidence of progressive disease (PD) after initial therapy. Metaphase detection of IgH rearrangements and chromosome 1 aberrations concurrently was associated with a short progression free survival (PFS) (P = 0.036). No significant prognostic implications of other cytogenetic abnormalities were found associated with overall survival and PFS.

CONCLUSIONS

Chinese MM patients had similar cytogenetic abnormalities compared with the previous reported studies. However, the prognostic significance of FISH aberrations were not clearly determined and further study is required.

摘要

背景

染色体异常在多发性骨髓瘤(MM)中具有重要的预后作用。与传统细胞遗传学技术(CC)相比,间期荧光原位杂交(i-FISH)在识别 MM 细胞遗传学异常方面更为有效。为了明确确定中国 MM 患者的细胞遗传学特征并确定其预后意义,我们设计了一项基于 i-FISH 的多中心研究,该研究纳入了来自中国 52 家医院的 672 例患者。

方法

对所有 672 例患者进行了以下基因组异常的系统筛查:del(13q)、IgH 重排、del(p53)和 1q21 扩增。

结果

CC 检测到 22.1%的患者存在染色体变化,i-FISH 检测到 82.3%的患者存在染色体变化。CC 最常见的异常是染色体 1 异常(48.4%)、-13/13q-(37.6%)、超二倍体(36.6%)、亚二倍体(30.1%)和 IgH 重排(23.7%)。FISH 最常见的异常是 del(13q),在 60.4%的患者中发现,而 IgH 重排、1q21 扩增和 p53 缺失分别在 57.6%、49.0%和 34.7%的患者中发现。通过统计分析,CC 中的-13/13q-与血小板水平低有关(P=0.015),超二倍体与血清白蛋白水平低有关(P=0.028),FISH 中的 IgH 重排与β2 微球蛋白水平高有关(P=0.019)。此外,初始治疗后,1q21 扩增和 FISH 中的 del(p53)与进展性疾病(PD)的高发生率相关。中期检测到 IgH 重排和染色体 1 异常与无进展生存期(PFS)短有关(P=0.036)。未发现其他细胞遗传学异常与总生存期和 PFS 有明显的预后意义。

结论

与以前报道的研究相比,中国 MM 患者具有相似的细胞遗传学异常。然而,FISH 异常的预后意义尚不清楚,需要进一步研究。

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