研究动态
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骨髓增生异常肿瘤的分子监测:不要只关注这个空间,还要考虑患者的血统。

Molecular monitoring of myelodysplastic neoplasm: Don't just watch this space, consider the patient's ancestry.

发表日期:2024 Aug 13
作者: Howard Lopes Ribeiro Júnior
来源: BRITISH JOURNAL OF HAEMATOLOGY

摘要:

骨髓增生异常肿瘤 (MDS) 的异质性不仅限于突变多样性,还包括显着的种族变异性,这一因素尚未得到充分研究。虽然 IPSS-M 预后工具的开发增进了我们对 MDS 的理解,但其对主要来自欧洲队列的数据的依赖限制了其对非欧洲人群的适用性。 Duployez 等人的综述强调了 MDS 中分子标记对于个性化治疗和疾病监测的重要性,但没有解决遗传血统的影响。该评论批评了 IPSS-M 的 110 名巴西患者样本有限,质疑其是否足以反映患者血统对预后准确性的影响。鉴于不同种族群体之间可能存在不同的突变谱和预后影响,迫切需要强有力的基因组谱系研究。这些研究应按种族背景对 MDS 患者进行分层,以调查突变发生率和影响,从而验证 IPSS-M 并有可能识别新的预后标志物。将种族多样性纳入预后模型对于确保其真正具有普遍性和包容性至关重要,从而改善所有 MDS 患者的个性化治疗和护理。评论:Duployez 和“Preudhomme”。监测骨髓增生异常综合征治疗中的分子变化。 Br J Haematol 2024(印刷前在线)。 doi: 10.1111/bjh.19614.© 2024 英国血液学会和 John Wiley
The heterogeneity of Myelodysplastic Neoplasm (MDS) extends beyond mutational diversity to include significant ethnic variability, a factor that has been underexplored. While the development of the IPSS-M prognostic tool has advanced our understanding of MDS, its reliance on data primarily from European cohorts limits its applicability to non-European populations. Duployez et al.'s review highlighted the importance of molecular markers in MDS for personalized treatment and disease monitoring yet did not address the impact of genetic ancestry. This commentary critiques the IPSS-M's limited sample of 110 Brazilian patients, questioning its adequacy in reflecting the influence of patient ancestry on prognostic accuracy. Given the potential for differing mutation profiles and prognostic implications across diverse ethnic groups, robust genomic ancestry studies are urgently needed. These studies should stratify MDS patients by ethnic background to investigate mutation incidence and impacts, thereby validating IPSS-M and potentially identifying new prognostic markers. Incorporating ethnic diversity into prognostic models is essential for ensuring they are truly universal and inclusive, thereby improving personalized treatment and care for all MDS patients. Commentary on: Duployez and Preudhomme. Monitoring molecular changes in the management of myelodysplastic syndromes. Br J Haematol 2024 (Online ahead of print). doi: 10.1111/bjh.19614.© 2024 British Society for Haematology and John Wiley & Sons Ltd.