Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
Genes Chromosomes Cancer. 2019 Sep;58(9):669-672. doi: 10.1002/gcc.22751. Epub 2019 Apr 8.
Infant acute lymphoblastic leukemia with lysine (K)-specific methyltransferase 2A (KMT2A) rearrangements usually has a poor prognosis regardless of the fusion partners of KMT2A. However, the prognosis of pediatric acute myeloid leukemia (AML) with KMT2A rearrangements depends on its translocation partners. We herein report the case of a 9-month-old boy with a KMT2A-USP2 fusion, which required diagnosis by whole transcriptome sequencing after the failure of detection of known translocation partners by conventional screening approaches. As this first report of a patient with AML with a KMT2A-USP2 fusion illustrates, identification of the partners in all patients with KMT2A-rearranged AML is critical to elucidate the outcomes associated with specific rearrangements and to develop appropriate treatment strategies. Moreover, development of additional methods to detect specific translocation partners of KMT2A and leukemia-specific targeting drugs is important to improve further the outcomes of KMT2A-rearranged AML.
伴赖氨酸（K）特异性甲基转移酶 2A（KMT2A）重排的婴儿急性淋巴细胞白血病无论 KMT2A 的融合伙伴如何，通常预后不良。然而，伴有 KMT2A 重排的小儿急性髓系白血病（AML）的预后取决于其易位伙伴。我们在此报告一例伴 KMT2A-USP2 融合的 9 个月大男婴的病例，在常规筛选方法未能检测到已知易位伙伴后，需要通过全转录组测序进行诊断。正如该 KMT2A-USP2 融合 AML 患者的首例报告所示，鉴定所有 KMT2A 重排 AML 患者的伙伴对于阐明与特定重排相关的结果以及制定适当的治疗策略至关重要。此外，开发检测 KMT2A 和白血病特异性靶向药物的特定易位伙伴的其他方法对于进一步改善 KMT2A 重排 AML 的结果也很重要。
