Fisher-Heath Thomas C, Sharma Aastha, Marshall Mark S, Brown Tiffany, Batra Sandeep
Department of Pediatrics, Indiana University School of Medicine, Riley Children's Health Indiana University Health, Indianapolis, IN 46202, USA.
Indiana University Melvin and Bren Simon Cancer Center, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Cancers (Basel). 2025 Jul 23;17(15):2443. doi: 10.3390/cancers17152443.
Somatic and epigenetic alterations contribute to myeloid leukemogenesis and play an important role in risk stratification and the optimization of treatment for myeloid malignancies. The significance of rare genetic alterations, such B-cell lymphoma-6 corepressor (BCOR) and B-cell lymphoma-6 corepressor-like protein 1 () mutations, in pediatric acute myeloid leukemias (AML) and myelodysplastic syndrome (MDS) is unknown. We present a case series of pediatric and adolescent patients, with de novo AML, harboring mutations. Studies involving larger cohorts of patients are needed to further elucidate the role of mutations in pediatric AML and MDS.
体细胞和表观遗传改变促成了髓系白血病的发生,并在髓系恶性肿瘤的风险分层和治疗优化中发挥重要作用。罕见基因改变,如B细胞淋巴瘤-6共抑制因子(BCOR)和B细胞淋巴瘤-6共抑制因子样蛋白1()突变,在儿童急性髓系白血病(AML)和骨髓增生异常综合征(MDS)中的意义尚不清楚。我们报告了一系列患有新发AML且携带 突变的儿童和青少年患者病例。需要开展涉及更多患者队列的研究,以进一步阐明 突变在儿童AML和MDS中的作用。