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Abstract：
The prognostic and predictive role of specific gene mutations in Waldenström Macroglobulinemia (WM) is well-ascertained whereas the clinical impact of chromosome aberrations is far less known. Recent work has provided initial evidence for an adverse prognostic impact of some aberrations, such as del(6q), while other studies suggest a possible relationship between some clinical features (e.g. advanced age and/or inflammatory status) and specific cytogenetic abnormalities. To add to the still limited knowledge on WM cytogenetics and its clinical implications, we herein report our experience in a cohort of WM patients across 23 years. Based on our retrospective study, we found that abnormal karyotype was more represented in older patients and maintained a statistically significant independence from other molecular, clinical, and biological features related to WM. The presence and number of cytogenetic aberrations correlated with inferior overall and progression-free survival outcomes regardless of the type of single chromosome aberration. Our data suggests that the role of the altered karyotype deserves to be further clarified especially in elderly WM patients, in whom cytogenetic abnormalities and disease biology appear to be characterized by a higher degree of complexity.
摘要：
Waldenström巨球蛋白血症（WM）中特定基因突变的预后和预测作用已得到充分确定，而染色体畸变的临床影响却鲜为人知。最近的工作已经提供了一些异常的不良预后影响的初步证据，例如del(6q)，而其他研究提示某些临床特征(如高龄和/或炎症状态)与特定的细胞遗传学异常之间可能存在关系.为了增加对WM细胞遗传学及其临床意义的仍然有限的知识，我们在此报告我们在23年的WM患者队列中的经验.根据我们的回顾性研究,我们发现异常核型在老年患者中表现得更多，并且与其他分子保持统计学上显著的独立性，临床,与WM相关的生物学特征。无论单染色体畸变的类型如何，细胞遗传学畸变的存在和数量都与较差的总体和无进展生存结果相关。我们的数据表明，特别是在老年WM患者中，核型改变的作用值得进一步阐明。在其中，细胞遗传学异常和疾病生物学似乎具有更高的复杂性。
