尽管免疫机制被认为发挥了作用，但在缺乏疾病缓解治疗的情​​况下白血病的消退仍然知之甚少。在此，我们介绍了一名 17 岁男孩的独特病例，该男孩患有免疫失调，并且在缺乏疾病修饰治疗的情况下，（前）白血病克隆会长期消退。通过分子和免疫学分析，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，检测到骨髓中几乎没有任何原始细胞的某些融合基因可能表明存在伴随的致癌融合基因，这对未来患者的疾病监测和管理具有影响。版权所有 © 2023 Koedijk, van Beek, Vermeulen、Kester、Schweighart、Nierkens、Belderbos、Zwaan、Heitink-Polllé 和 Heidenreich。

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.Copyright © 2023 Koedijk, van Beek, Vermeulen, Kester, Schweighart, Nierkens, Belderbos, Zwaan, Heitink-Pollé and Heidenreich.