Messiaen Julie, Uyttebroeck Anne, Michaux Lucienne, Vandenberghe Peter, Boeckx Nancy, Jacobs Sandra A
Translational Cell and Tissue Research, Department of Imaging and Pathology, KU Leuven, 3000 Leuven, Belgium.
Department of Pediatric Hematology and Oncology, University Hospitals Leuven, 3000 Leuven, Belgium.
Mol Clin Oncol. 2023 Jan 31;18(3):18. doi: 10.3892/mco.2023.2614. eCollection 2023 Mar.
Acute megakaryoblastic leukemia (AMKL) is a rare disease, occurring mostly in infants and young children. The chromosomal translocation t(1;22)(p13;q13), resulting in the RBM15-MKL1 fusion gene, is a recurrent and diagnostic translocation in infants with AMKL. The present case report describes a case of a newborn girl, without Down's syndrome, with congenital AMKL. At birth, the infant had hepatosplenomegaly and the peripheral blood count revealed anemia, thrombopenia and leukocytosis, with 28% blasts. Immunophenotyping demonstrated blasts positive for CD34, CD61 and CD42b. Karyotyping of these blasts (R-banding) showed a hitherto unreported chromosomal translocation, t(1;7;22)(p13;q21;q13), a 3-way variant of the t(1;22)(p13;q13) variant. Fluorescent hybridization analysis confirmed the presence of the RBM15-MKL1 fusion gene.
急性巨核细胞白血病（AMKL）是一种罕见疾病，主要发生于婴幼儿。染色体易位t(1;22)(p13;q13)导致RBM15-MKL1融合基因的产生，这是婴幼儿AMKL中一种常见的诊断性易位。本病例报告描述了一名无唐氏综合征的先天性AMKL新生儿女孩的病例。出生时，该婴儿有肝脾肿大，外周血细胞计数显示贫血、血小板减少和白细胞增多，原始细胞占28%。免疫表型分析显示原始细胞CD34、CD61和CD42b呈阳性。这些原始细胞的核型分析（R显带）显示了一种迄今未报道的染色体易位，t(1;7;22)(p13;q21;q13)，即t(1;22)(p13;q13)变异体的一种三向变体。荧光杂交分析证实了RBM15-MKL1融合基因的存在。
