Wang Wei, Zhang Yudi, Yang Wenli, Liu Xiaozhen, Jiang Lingxu, Lang Wei, Luo Yingwan, Zhou Xinping, Wang Lu, Ye Li, Xu Ying, Ma Liya, Tong Hongyan
Department of Hematology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Myelodysplastic Syndromes Diagnosis and Therapy Center, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
J Transl Med. 2025 Jan 16;23(1):76. doi: 10.1186/s12967-024-05995-x.
Molecular-clinical prognostic models for Myelodysplastic syndromes (MDS) offer more accurate prognosis predictions, yet existing models often overlook the heterogeneity of mutational profiles against the cytogenetic background. Moreover, how to apply these models in regions where large panel NGS is unaffordable remains a significant challenge to be addressed.
A total of 237 NK MDS patients from our center were used as the training set to screen for key variables and develop a prognostic model with overall survival (OS) as the endpoint. The C-index was used as the main evaluation metric to assess the model's performance. The IWG-PM cohort (n = 691) was used as an external independent validation set to evaluate the generalizability of the model.
We developed a seven-parameter molecular-clinical prognostic model, the Molecular Prognostic Scoring System for NK MDS (NK-PSS-M), which only incorporates three gene mutations as parameters. The NK-PSS-M can reliably predict OS and leukemia-free survival (LFS). The performance of NK-PSS-M was comparable to that of the Molecular International Prognostic Scoring System (IPSS-M), and it significantly outperformed the Revised International Prognostic Scoring System for MDS (IPSS-R).
The NK-PSS-M model improved the risk stratification of non-molecular models and provided a reliable alternative to the IPSS-M. This strategy provides insights into how resource-scarce regions can apply molecular-clinical models.
骨髓增生异常综合征（MDS）的分子临床预后模型能提供更准确的预后预测，但现有模型往往忽视了细胞遗传学背景下突变谱的异质性。此外，在无法负担大型基因panel二代测序（NGS）的地区如何应用这些模型仍是一个有待解决的重大挑战。
将来自我们中心的237例NK MDS患者作为训练集，筛选关键变量并构建以总生存期（OS）为终点的预后模型。采用C指数作为主要评估指标来评估模型性能。将国际工作组预后模型（IWG-PM）队列（n = 691）作为外部独立验证集来评估模型的可推广性。
我们开发了一种七参数分子临床预后模型，即NK MDS分子预后评分系统（NK-PSS-M），该模型仅纳入三个基因突变作为参数。NK-PSS-M能够可靠地预测OS和无白血病生存期（LFS）。NK-PSS-M的性能与分子国际预后评分系统（IPSS-M）相当，且显著优于MDS修订国际预后评分系统（IPSS-R）。
NK-PSS-M模型改善了非分子模型的风险分层，并为IPSS-M提供了可靠的替代方案。该策略为资源匮乏地区如何应用分子临床模型提供了思路。
