Therapy-related acute myeloid leukemia (t-AML) following treatment with topoisomerase-II inhibitors has been increasingly reported. These compounds (e.g. etoposide) promote DNA damage and are associated with KMT2A rearrangements. They are widely used as first-line treatment in hemophagocytic lymphohistiocytosis (HLH). Here we describe a newborn who developed t-AML after HLH treatment. We provide detailed clinical, cytogenetic, and molecular characteristics of this patient, including the identification of a novel gene fusion – KMT2A-SNX9 – in t-AML. Considering the dismal outcome of this case, we discuss the side-effects of etoposide administration during HLH treatment in infants.

使用拓扑异构酶-II 抑制剂治疗后与治疗相关的急性髓系白血病 (t-AML) 的报道越来越多。这些化合物（例如依托泊苷）促进 DNA 损伤并与KMT2A重排有关。它们被广泛用作噬血细胞性淋巴组织细胞增生症 (HLH) 的一线治疗。在这里，我们描述了一个在 HLH 治疗后发展为 t-AML 的新生儿。我们提供了该患者详细的临床、细胞遗传学和分子特征，包括在 t-AML 中鉴定了一种新的基因融合 - KMT2A - SNX9。考虑到该病例的惨淡结果，我们讨论了在婴儿 HLH 治疗期间给予依托泊苷的副作用。