PDF(Pubmed)
Abstract：
The Philadelphia chromosome-negative myeloproliferative neoplasms (Ph-MPNs) are a heterogeneous group of clonal hematopoietic malignancies that include polycythemia vera (PV), essential thrombocythemia (ET), and the prefibrotic form of primary myelofibrosis (prePMF). In this study, we retrospectively reviewed the karyotypes from conventional cytogenetics (CC) and array Comparative Genomic Hybridization + Single Nucleotide Polymorphism (aCGH + SNP) in patients with ET or prePMF to determine whether the combined analysis of both methodologies can identify patients who may be at a higher risk of disease progression. We performed a comprehensive genomic review on 169 patients with a clinical diagnosis of ET (154 patients) or prePMF (15 patients). Genomic alterations detected by CC or array-CGH + SNP were detected in 36% of patients. In patients who progressed, 68% had an abnormal genomic finding by either technology. There was a shorter progression-free survival (PFS) among patients who were cytogenetically abnormal or who were cytogenetically normal but had an abnormal aCGH + SNP result. Leveraging the ability to detect submicroscopic copy number alterations and regions of copy neutral-loss of heterozygosity, we identified a higher number of patients harboring genomic abnormalities than previously reported. These results underscore the importance of genomic analysis in prognostication and provide valuable information for clinical management and treatment decisions.
摘要：
费城染色体阴性骨髓增殖性肿瘤（Ph-MPN）是一组异质性的克隆性造血系统恶性肿瘤，包括真性红细胞增多症（PV），原发性血小板增多症（ET），和原发性骨髓纤维化（prePMF）的纤维化前形式。在这项研究中,我们回顾性回顾了ET或prePMF患者中常规细胞遗传学(CC)和阵列比较基因组杂交+单核苷酸多态性(aCGH+SNP)的核型,以确定两种方法的联合分析是否可以识别出疾病进展风险较高的患者.我们对169例临床诊断为ET（154例）或prePMF（15例）的患者进行了全面的基因组审查。在36%的患者中检测到通过CC或array-CGH+SNP检测到的基因组改变。在进展的患者中，68%的人通过两种技术都有异常的基因组发现。在细胞遗传学异常或细胞遗传学正常但aCGHSNP结果异常的患者中，无进展生存期（PFS）较短。利用检测亚显微拷贝数改变和杂合性拷贝中性丢失区域的能力，我们发现,携带基因组异常的患者数量比以前报道的多.这些结果强调了基因组分析在预测中的重要性，并为临床管理和治疗决策提供了有价值的信息。
