Pediatric Hematology-Oncology Program, Research Center, Instituto Nacional de Câncer, Rio de Janeiro, Brazil.
Institute of Pharmaceutical Biology / DCAL, Goethe-University of Frankfurt, Frankfurt/Main, Germany; Laboratory of Molecular Oncohematology, Institute of Health Sciences, Universidade Federal da Bahia, Salvador, Brazil.
Cancer Genet. 2021 Aug;256-257:86-90. doi: 10.1016/j.cancergen.2021.05.001. Epub 2021 May 7.
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.
拓扑异构酶-II 抑制剂治疗后相关的急性髓系白血病（t-AML）的报道越来越多。这些化合物（如依托泊苷）可促进 DNA 损伤，并与 KMT2A 重排相关。它们被广泛用作噬血细胞性淋巴组织细胞增多症（HLH）的一线治疗药物。在此，我们描述了一名新生儿在 HLH 治疗后发生 t-AML 的病例。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 中鉴定出一种新的基因融合 - KMT2A-SNX9。鉴于该病例的不良结局，我们讨论了在婴儿 HLH 治疗期间依托泊苷给药的副作用。
