文章：

基于基因组特征的骨髓增生异常和骨髓增殖性肿瘤及其重叠疾病的分类与预后分层

Classification and Prognostic Stratification Based on Genomic Features in Myelodysplastic and Myeloproliferative Neoplasm- and Their Overlapping Conditions

原文发布日期：9 December 2024

DOI: 10.3390/cancers16234121

类型: Article

开放获取: 是

英文摘要：

Background/Objectives: Myeloid neoplasms encompass a diverse group of disorders. In this study, we aimed to analyze the clinical and genomic data of patients with myeloproliferative neoplasm (MPN), myelodysplastic neoplasm (MDS), and their overlapping conditions, such as MDS/MPN and aplastic anemia (AA), to help redefine the disease classification.Methods: Clinico-genomic data of 1585 patients diagnosed with MPN (n= 715), MDS (n= 698), MDS/MPN (n= 78), and AA (n= 94) were collected. Patterns of 53 recurrent genomic abnormalities were compartmentalized into 10 groups using a Dirichlet process (DP).Results:These genomic groups were correlated with specific genomic features, survival outcomes, and disease subtypes. Groups DP1 and DP5, characterized byJAK2andCALRmutations, respectively, showed very favorable prognoses among the patients with MPN. Groups DP2, DP7, and DP9 demonstrated very adverse prognoses across the disease subtypes. DP2 included patients with MDS harboringTP53mutations and complex karyotypes; DP9 comprised patients with acute myeloid leukemia-related mutations, includingNPM1; and DP7 included patients withSETBP1mutations. Groups DP10 and DP8, linked toSF3B1andDDX41mutations or chromosome 1q derivatives, presented a favorable risk profile. Improved survival was observed with transplantation in groups DP2, DP7, and DP9.Conclusions: These findings highlight the role of genomic classifications in guiding personalized treatment strategies, ultimately enhancing the understanding and management of myeloid neoplasms.

摘要翻译： 

背景/目的：髓系肿瘤包含一组异质性疾病。本研究旨在分析骨髓增殖性肿瘤（MPN）、骨髓增生异常肿瘤（MDS）及其重叠疾病（如MDS/MPN和再生障碍性贫血[AA]）患者的临床与基因组数据，以协助重新定义疾病分类。方法：收集了1585例诊断为MPN（n=715）、MDS（n=698）、MDS/MPN（n=78）和AA（n=94）患者的临床基因组数据。通过狄利克雷过程（DP）将53种常见基因组异常模式划分为10个组别。结果：这些基因组分组与特定的基因组特征、生存结局及疾病亚型相关。以JAK2和CALR突变为特征的DP1和DP5组在MPN患者中显示出极佳的预后。DP2、DP7和DP9组在所有疾病亚型中均表现出极差的预后：DP2组包含携带TP53突变和复杂核型的MDS患者；DP9组包含具有急性髓系白血病相关突变（包括NPM1突变）的患者；DP7组则为携带SETBP1突变的患者。与SF3B1和DDX41突变或1号染色体衍生异常相关的DP10和DP8组呈现出良好的风险特征。在DP2、DP7和DP9组中，移植治疗可改善患者生存。结论：这些发现凸显了基因组分类在指导个体化治疗策略中的作用，最终深化了对髓系肿瘤的理解和临床管理。

原文链接：

Classification and Prognostic Stratification Based on Genomic Features in Myelodysplastic and Myeloproliferative Neoplasm- and Their Overlapping Conditions