Department of Pediatric Hematology, Oncology and Bone Marrow Transplant, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, Colorado.
Division of Hematology/Oncology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama.
Pediatr Blood Cancer. 2019 Jun;66(6):e27649. doi: 10.1002/pbc.27649. Epub 2019 Feb 25.
Germline or acquired mutations involving the GATA-binding protein gene (GATA2) have been linked to a variety of clinical conditions. In addition, patients harboring GATA2 mutations have a striking predisposition to develop myeloid malignancies, such as myelodysplastic syndrome or acute myeloid leukemia, but not acute lymphoblastic leukemia (ALL). We report here a unique occurrence of early T-cell precursor ALL in a young child with GATA2 haploinsufficiency.
胚系或获得性 GATA 结合蛋白基因(GATA2)突变与多种临床情况有关。此外,携带 GATA2 突变的患者有显著发展为髓系恶性肿瘤的倾向,如骨髓增生异常综合征或急性髓系白血病,但不发生急性淋巴细胞白血病(ALL)。我们在此报告一例 GATA2 部分功能缺失的幼儿中罕见的早幼 T 细胞前体 ALL。