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基因异常对多发性骨髓瘤患者预后及临床参数的影响。

Impact of genetic abnormalities on the prognoses and clinical parameters of patients with multiple myeloma.

作者信息

Jekarl Dong Wook, Min Chang-Ki, Kwon Ahlm, Kim Hyunjung, Chae Hyojin, Kim Myungshin, Lim Jihyang, Kim Yonggoo, Han Kyungja

机构信息

Department of Laboratory Medicine, Catholic Genetic Laboratory Center, College of Medicine, The Catholic University of Korea, Seoul, Korea.

出版信息

Ann Lab Med. 2013 Jul;33(4):248-54. doi: 10.3343/alm.2013.33.4.248. Epub 2013 Jun 24.

Abstract

BACKGROUND

We reviewed patients with multiple myeloma (MM) in order to assess the incidence of genetic abnormalities and their associations with clinical parameters, risk groups, and prognosis.

METHODS

A total of 130 patients with MM were enrolled. The incidences of genetic abnormalities were determined in all patients. The relationships of the genetic abnormalities and clinical parameters were investigated. In addition, a survival analysis was performed.

RESULTS

Abnormal karyotypes were detected in 42.3% (N=55) of the patients, and this was increased to 63.1% (N=82) after including the results determined with interphase FISH. Hypodiploidy was observed in 7.7% (N=10) of the patients, and all were included in the group with complex karyotypes (30.8%, N=40). The 14q32 rearrangements were detected in 29.2% (N=38) of the patients, and these most commonly included t(11;14), which was followed by t(4;14) and t(14;16) (16.2%, 11.5%, and 0.8%, respectively). Abnormal karyotypes and complex karyotypes were associated with disease progression markers, including low hemoglobin levels, low platelet counts, high plasma cell burden, high β2-microglobulin, and high international staging system stages. A high free light chain (FLC) ratio and FLC difference were associated with abnormal karyotypes, complex karyotypes, and higher plasma cell burden. Hypodiploidy and low platelet counts were significant independent prognostic factors and were more important in patient outcome than any single abnormality.

CONCLUSIONS

Genetic abnormalities were associated with disease progression markers and prognosis of MM patients.

摘要

背景

我们对多发性骨髓瘤(MM)患者进行了回顾,以评估基因异常的发生率及其与临床参数、风险分组和预后的关联。

方法

共纳入130例MM患者。确定所有患者的基因异常发生率。研究基因异常与临床参数之间的关系。此外,进行了生存分析。

结果

42.3%(n = 55)的患者检测到核型异常,纳入间期荧光原位杂交(FISH)检测结果后,这一比例增至63.1%(n = 82)。7.7%(n = 10)的患者观察到亚二倍体,所有这些患者均被纳入复杂核型组(30.8%,n = 40)。29.2%(n = 38)的患者检测到14q32重排,其中最常见的是t(11;14),其次是t(4;14)和t(14;16)(分别为16.2%、11.5%和0.8%)。核型异常和复杂核型与疾病进展标志物相关,包括低血红蛋白水平、低血小板计数、高浆细胞负荷、高β2-微球蛋白和高国际分期系统分期。高游离轻链(FLC)比值和FLC差异与核型异常、复杂核型及更高的浆细胞负荷相关。亚二倍体和低血小板计数是显著的独立预后因素,对患者预后的影响比任何单一异常更为重要。

结论

基因异常与MM患者的疾病进展标志物及预后相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/013d/3698302/95cf16f2c287/alm-33-248-g001.jpg

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