Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Department of Pediatrics, Division of Pediatric Hematology-Oncology, Mount Sinai Kravis Children's Hospital, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
Cold Spring Harb Mol Case Stud. 2022 Apr 28;8(3). doi: 10.1101/mcs.a006167. Print 2022 Apr.
Myeloid leukemia of Down syndrome (ML-DS) in young children is associated with distinct clinical and biological features and is typically initiated with oncogenic mutations in the X-linked megakaryocytic transcription factor Here we present a 3-yr-old child with DS diagnosed with acute myeloid leukemia (AML), which lacks typical immunophenotypic and molecular characteristics of ML-DS, including mutations. The leukemic blasts were found to have an gene fusion, a high-risk oncofusion not previously described in DS patients. This report highlights the importance of immunophenotypic, cytogenetic, and molecular characterization of ML-DS for identification of rare cases with unique features that may benefit from treatment protocols that are more intensive than those developed for patients with typical mutant ML-DS.
唐氏综合征相关髓系白血病（ML-DS）在婴幼儿中具有独特的临床和生物学特征，通常由 X 连锁巨核细胞转录因子 上的致癌突变引发。本研究报道了一例 3 岁唐氏综合征患儿，诊断为急性髓系白血病（AML），该患儿缺乏 ML-DS 的典型免疫表型和分子特征，包括 基因突变。白血病细胞融合基因检测发现存在 基因融合，这是一种以前在 DS 患者中未描述过的高危致癌融合。本研究强调了对 ML-DS 进行免疫表型、细胞遗传学和分子特征分析的重要性，以确定具有独特特征的罕见病例，这些病例可能受益于比针对典型 突变 ML-DS 患者制定的治疗方案更强化的治疗方案。
