PDF(Pubmed)
Abstract：
Regression of leukemia in the absence of disease-modifying therapy remains poorly understood, although immunological mechanisms are thought to play a role. Here, we present a unique case of a 17-year-old boy with immune dysregulation and long-lasting regression of a (pre)leukemic clone in the absence of disease-modifying therapy. Using molecular and immunological analyses, we identified bone marrow features associated with disease control and loss thereof. In addition, our case reveals that detection of certain fusion genes with hardly any blasts in the bone marrow may be indicative of an accompanying oncogenic fusion gene, with implications for disease surveillance- and management in future patients.
摘要：
在没有疾病改善治疗的情况下，白血病的消退仍然知之甚少，虽然免疫机制被认为起作用。这里,我们介绍了一个17岁男孩的独特病例,该男孩在没有疾病改善治疗的情况下,出现免疫失调和(前)白血病克隆的持久消退.利用分子和免疫学分析，我们确定了与疾病控制和丧失相关的骨髓特征.此外,我们的案例表明，在骨髓中几乎没有任何母细胞的某些融合基因的检测可能表明伴随的致癌融合基因，对未来患者的疾病监测和管理具有重要意义。
