Ribeiro Júnior Howard Lopes
Cancer Cytogenomic Laboratory, Center for Research and Drug Development (NPDM), Federal University of Ceara, Fortaleza, Ceara, Brazil.
Post-Graduate Program of Pathology, Federal University of Ceara, Fortaleza, Ceara, Brazil.
Br J Haematol. 2024 Sep;205(3):759-760. doi: 10.1111/bjh.19689. Epub 2024 Aug 13.
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; 205:772-779.
骨髓增生异常综合征(MDS)的异质性不仅体现在突变多样性上,还包括显著的种族差异,而这一因素一直未得到充分探索。虽然国际预后评分系统-骨髓增生异常综合征(IPSS-M)预后工具的发展增进了我们对MDS的理解,但其主要依赖欧洲队列的数据限制了它在非欧洲人群中的适用性。杜普洛耶等人的综述强调了MDS分子标志物在个性化治疗和疾病监测中的重要性,但未涉及遗传血统的影响。本评论批评了IPSS-M仅纳入110名巴西患者的有限样本,质疑其在反映患者血统对预后准确性影响方面的充分性。鉴于不同种族群体之间存在不同突变谱和预后影响的可能性,迫切需要开展强有力的基因组血统研究。这些研究应按种族背景对MDS患者进行分层,以调查突变发生率及其影响,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。评论对象:杜普洛耶和普雷多姆。骨髓增生异常综合征管理中的分子变化监测。《英国血液学杂志》2024年;205:772 - 779。