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[骨髓增生异常综合征的分子国际预后评分系统]

[Molecular international prognostic scoring system for myelodysplastic syndromes].

作者信息

Nagata Yasunobu

机构信息

Department of Hematology, Nippon Medical School.

出版信息

Rinsho Ketsueki. 2023;64(5):355-368. doi: 10.11406/rinketsu.64.355.

Abstract

The prognosis for patients with myelodysplastic syndromes (MDS) was classified into several groups by the International Prognostic Scoring System for Myelodysplastic Syndromes (IPSS) or its revised version, based on chromosome aberrations, blast counts, and hematological abnormalities. Although genetic mutations, including TP53, DDX41, and SF3B1, had prognostic importance, the coexistence of these genetic abnormalities makes systematic risk stratification extremely hard. Recently, an international working group reported a large study of 3,000 patients with MDS, which proposed a novel IPSS using genetic mutations (IPSS-M). They have released an open-access web page ( https://mds-risk-model.com/ ) that considers missing values and is being used worldwide. By combining genomic profiling with hematological and cytogenetic parameters, IPSS-M is expected to improve the risk stratification of patients with MDS and be an essential tool for clinical decision-making, including treatment options.

摘要

根据染色体异常、原始细胞计数和血液学异常情况,骨髓增生异常综合征(MDS)患者的预后通过国际骨髓增生异常综合征预后评分系统(IPSS)或其修订版被分为几个组。尽管包括TP53、DDX41和SF3B1在内的基因突变具有预后重要性,但这些基因异常的共存使得系统的风险分层极其困难。最近,一个国际工作组报告了一项对3000例MDS患者的大型研究,该研究提出了一种使用基因突变的新型IPSS(IPSS-M)。他们发布了一个考虑缺失值的开放获取网页(https://mds-risk-model.com/),该网页正在全球范围内使用。通过将基因组分析与血液学和细胞遗传学参数相结合,IPSS-M有望改善MDS患者的风险分层,并成为临床决策(包括治疗选择)的重要工具。

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