Department of Hemato-Oncology, Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands.
Department of Pediatric Oncology, Erasmus Medical Center (MC)/Sophia Children's Hospital, Rotterdam, Netherlands.
Front Immunol. 2023 Oct 16;14:1280885. doi: 10.3389/fimmu.2023.1280885. eCollection 2023.
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.
尽管免疫机制被认为发挥了作用，但白血病在没有疾病修正治疗的情况下消退仍知之甚少。在这里，我们报告了一个独特的病例，一名 17 岁男孩患有免疫失调症，在没有疾病修正治疗的情况下，(前)白血病克隆长期消退。通过分子和免疫学分析，我们确定了与疾病控制和控制丢失相关的骨髓特征。此外，我们的病例表明，骨髓中几乎没有原始细胞检测到某些融合基因可能提示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重要意义。
