Suppr超能文献

染色体 13 缺失和常规细胞遗传学上的亚二倍体是韩国多发性骨髓瘤患者强有力的预后因素:基于网络的多中心登记研究。

Chromosome 13 deletion and hypodiploidy on conventional cytogenetics are robust prognostic factors in Korean multiple myeloma patients: web-based multicenter registry study.

机构信息

Department of Internal Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University, Seoul, South Korea.

出版信息

Ann Hematol. 2014 Aug;93(8):1353-61. doi: 10.1007/s00277-014-2057-5. Epub 2014 Mar 27.

Abstract

This study was designed to evaluate the prevalence of chromosomal abnormalities and to identify the specific abnormalities associated with poor prognosis. A total of 2,474 patients whose conventional cytogenetics were available at the time of diagnosis were evaluated via a nationwide registry. Normal metaphase cytogenetics was observed in 2,012 patients (81.3%). Among the 462 patients with chromosomal abnormalities, there were 161 (34.8%) patients with hyperdiploidy, 197 (42.6%) with pseudodiploidy, 79 (17.1%) with hypodiploidy, and 25 (5.5%) with near-tetraploidy. Deletion 13 (Δ13) in metaphase was observed in 167 patients (6.8%). Fluorescent in situ hybridization (FISH) was carried out in 967 patients (39.1%), and 66 (13.7%) out of 482 and 63 (10.3%) out of 611 patients were positive for t(4;14) and del(17p), respectively. With a median follow-up duration of 25.1 months, the median overall survival (OS) was 51.2 months (95% confidence interval, 46.5-55.9 months). In univariate analysis, the following four chromosomal abnormalities were significantly associated with a poor survival outcome: Δ13, hypodiploidy, del(13q) in FISH, and del(17p) in FISH. In the subsequent multivariate analysis, in which del(13q) and del(17p) in FISH were excluded due to a relatively low number of patients, Δ13 and hypodiploid status were independently associated with a poor survival outcome after adjusting for important clinical factors, including age, sex, performance, beta2-microglobulin, albumin, and lactate dehydrogenase (LDH). Using conventional metaphase cytogenetics, we confirmed that both Δ13 and hypodiploid status were robust poor prognostic factors. The metaphase karyotyping should remain the primary cytogenetic tool and an essential investigation for risk stratification in newly diagnosed multiple myeloma patients.

摘要

本研究旨在评估染色体异常的发生率,并确定与预后不良相关的具体异常。通过全国性注册登记,对 2474 名在诊断时常规细胞遗传学检查结果可用的患者进行了评估。2012 名患者(81.3%)观察到正常中期细胞遗传学。在 462 名染色体异常的患者中,有 161 名(34.8%)患者存在超二倍体,197 名(42.6%)存在假二倍体,79 名(17.1%)存在亚二倍体,25 名(5.5%)存在近四倍体。167 名患者(6.8%)观察到中期缺失 13(Δ13)。对 967 名患者(39.1%)进行了荧光原位杂交(FISH),482 名患者中有 66 名(13.7%)和 611 名患者中有 63 名(10.3%)的 t(4;14)和 del(17p)为阳性。中位随访时间为 25.1 个月,中位总生存期(OS)为 51.2 个月(95%置信区间,46.5-55.9 个月)。单因素分析显示,以下四种染色体异常与较差的生存结局显著相关:Δ13、亚二倍体、FISH 中缺失 13q 和 FISH 中缺失 17p。在随后的多因素分析中,由于患者数量相对较少,排除了 FISH 中的 del(13q)和 del(17p),在调整了重要的临床因素(包括年龄、性别、表现、β2-微球蛋白、白蛋白和乳酸脱氢酶(LDH))后,Δ13 和亚二倍体状态与较差的生存结局独立相关。使用常规中期细胞遗传学,我们证实了Δ13 和亚二倍体状态均为强大的不良预后因素。中期核型分析应仍然是多发性骨髓瘤新诊断患者风险分层的主要细胞遗传学工具和必要检查。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验