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韩国多发性骨髓瘤患者的细胞遗传学分类:47 - 50条染色体的超二倍体及结构异常数量的预后意义

Cytogenetic classification in Korean multiple myeloma patients: prognostic significance of hyperdiploidy with 47-50 chromosomes and the number of structural abnormalities.

作者信息

Lim Ji-Hun, Seo Eul-Ju, Park Chan-Jeoung, Jang Seongsoo, Chi Hyun-Sook, Suh Cheolwon, Kim Hawk, Kim Sung-Ryul

机构信息

Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

出版信息

Eur J Haematol. 2014 Apr;92(4):313-20. doi: 10.1111/ejh.12257. Epub 2014 Feb 10.

Abstract

Chromosomal abnormalities are important prognostic factors for patients diagnosed with multiple myeloma (MM). We retrospectively reviewed the clinical and laboratory data of 525 MM patients to assess the abnormalities frequently found by conventional cytogenetic analysis and to determine their relationship to prognosis and clinical parameters. Samples from 222 (42.3%) patients had abnormal karyotypes. Hyperdiploidy-1 (>50 chromosomes), hyperdiploidy-2 (47-50 chromosomes), pseudodiploidy (46 with abnormalities), and hypodiploidy (<46 chromosomes) were found in 55, 44, 42, and 81 patients, respectively. The median overall survival (OS) was significantly shorter in patients with hyperdiploidy-2 (20.9 months), pseudodiploidy (19.9 months), and hypodiploidy (18.3 months) compared with patients with normal karyotype (66 months) and hyperdiploidy-1 (55.4 months) (P < 0.001). Among patients with chromosomal abnormalities, those with 1q amplification had a shorter median OS (17 vs. 25.1 months, P = 0.018). Patients with a chromosome 13 deletion in the pseudodiploidy group also had a shorter OS. A karyotype with more than six structural abnormalities was found to have the most significant independent prognostic value by multivariate analysis. These data show that hyperdiploidy with 47-50 chromosomes should be recategorized as an unfavorable risk group, and the number of structural abnormalities needs to be considered as an important factor for prognosis. In conclusion, our findings imply that subclassification of chromosomal abnormalities by conventional cytogenetics could be applied to the prognostic assessment of MM.

摘要

染色体异常是诊断为多发性骨髓瘤(MM)患者的重要预后因素。我们回顾性分析了525例MM患者的临床和实验室数据,以评估常规细胞遗传学分析中常见的异常情况,并确定它们与预后和临床参数的关系。222例(42.3%)患者的样本核型异常。分别在55例、44例、42例和81例患者中发现超二倍体-1(>50条染色体)、超二倍体-2(47 - 50条染色体)、假二倍体(46条有异常)和亚二倍体(<46条染色体)。与核型正常(66个月)和超二倍体-1(55.4个月)的患者相比,超二倍体-2(20.9个月)、假二倍体(19.9个月)和亚二倍体(18.3个月)患者的中位总生存期(OS)显著缩短(P < 0.001)。在染色体异常的患者中,1q扩增的患者中位OS较短(17个月对25.1个月,P = 0.018)。假二倍体组中存在13号染色体缺失的患者OS也较短。多因素分析发现,具有超过6种结构异常的核型具有最显著的独立预后价值。这些数据表明,47 - 50条染色体的超二倍体应重新分类为不良风险组,结构异常的数量应被视为预后的重要因素。总之,我们的研究结果表明,通过常规细胞遗传学对染色体异常进行亚分类可应用于MM的预后评估。

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