Department of Hematology, Chinese People's Liberation Army General Hospital, 100853, Beijing, China.
Beijing USCI Medical Laboratory, Beijing, 100195, China.
Ann Hematol. 2020 Nov;99(11):2611-2617. doi: 10.1007/s00277-020-04251-8. Epub 2020 Sep 26.
EP300-ZNF384 fusion is a rare recurrent cytogenetic abnormality associated with B cell acute lymphoblastic leukemia (B-ALL), which was rarely studied in Chinese patient cohort. Here, we used a customized RNA fusion gene panel to investigate gene fusions in 56 selected acute leukemia patients without conventional genetic abnormalities. Two EP300-ZNF384 fusion forms were detected in ten cases, which were in-frame fusions of EP300 exon 6 fused with exon 3 or 2 of ZNF384. The fusions led to the lack of most functional domains of EP300. We firstly reported EP300-ZNF384 fusion in a mixed-phenotype acute leukemia (MPAL) patient whose CD33 and CD13 were negative. The rest nine B-ALL patients with EP300-ZNF384 fusion expressed CD33 and/or CD13. Fifty-six percent of B-ALL patients (5/9) with EP300-ZNF384 fusion were positive with CD10. After the diagnosis of EP300-ZNF384 fusion, 70% of the patients achieved remission after chemotherapy. Our observations indicated that EP300-ZNF384 fusion consists of a distinct subgroup of B-ALL with a characteristic immunophenotype. These patients are sensitive to current chemotherapy regimen and have an excellent outcome.
EP300-ZNF384 融合是一种罕见的、与 B 细胞急性淋巴细胞白血病（B-ALL）相关的反复出现的细胞遗传学异常，在中国患者群体中研究甚少。在这里，我们使用定制的 RNA 融合基因panel 来研究 56 名经选择的无常规遗传异常的急性白血病患者的基因融合。在 10 例中检测到两种 EP300-ZNF384 融合形式，为 EP300 外显子 6 与 ZNF384 的外显子 3 或 2 之间的框内融合。融合导致 EP300 的大多数功能结构域缺失。我们首次在一位混合表型急性白血病（MPAL）患者中报告了 EP300-ZNF384 融合，该患者的 CD33 和 CD13 为阴性。其余 9 例具有 EP300-ZNF384 融合的 B-ALL 患者表达 CD33 和/或 CD13。具有 EP300-ZNF384 融合的 9 例 B-ALL 患者中有 56%（5/9）的患者 CD10 阳性。在诊断为 EP300-ZNF384 融合后，70%的患者在化疗后达到缓解。我们的观察结果表明，EP300-ZNF384 融合构成了具有特征性免疫表型的 B-ALL 的一个独特亚群。这些患者对当前的化疗方案敏感，且预后极好。
