Shibusawa Motoharu
IMS Group, Shinmatsudo Central General Hospital, Department of Hematology, Chiba, Japan.
Case Rep Hematol. 2021 Apr 19;2021:5529669. doi: 10.1155/2021/5529669. eCollection 2021.
The t(7;11)(p15;p15) translocation is a recurrent genetic abnormality associated with acute myelogenous leukemia (AML). The translocation results in a fusion between the nucleoporin 98 and homeobox genes. We describe a case of AML with t(7; 7)(p15;p22) translocation, which is a novel simple variant of the t(7;11)(p15;p15) translocation. A 66-year-old woman presented with subcutaneous hemorrhage in both forearms. Laboratory test revealed hyperleukocytosis (white blood cell count: 97,800 cells/L (blasts, 51.0%)), anemia (hemoglobin level: 7.6 g/dL), thrombocytopenia (platelet count: 6.5 × 10/L), and hyperfibrinolysis (elevated d-dimer level: 12.4 g/mL; fibrin/fibrinogen degradation products: 26.9 g/mL). The patient was diagnosed with AML; the blast morphology was unclassifiable according to the French-American-British classification. Flow cytometry CD45 gating revealed that the blasts expressed CD34, CD13, CD33, and CD117. G-banding of tumor cells revealed the t(7;7)(p15;p22) translocation [20/20]. The patient underwent chemotherapy. At 48 days of admission, the patient died of multiple organ failure. The t(7;7)(p15;p22) translocation involved chromosome 7p15, indicating its association with the homeobox genes. To the best of our knowledge, this is the first report of a patient with AML with the t(7;7)(p15;p22) translocation, which is a simple novel variant of the t(7;11)(p15;p15) translocation.
t(7;11)(p15;p15)易位是一种与急性髓系白血病（AML）相关的复发性基因异常。该易位导致核孔蛋白98和同源框基因之间发生融合。我们描述了一例伴有t(7;7)(p15;p22)易位的AML病例，这是t(7;11)(p15;p15)易位的一种新型简单变体。一名66岁女性出现双侧前臂皮下出血。实验室检查显示白细胞增多（白细胞计数：97,800个/升（原始细胞，51.0%））、贫血（血红蛋白水平：7.6克/分升）、血小板减少（血小板计数：6.5×10⁹/升）和高纤维蛋白溶解（D-二聚体水平升高：12.4微克/毫升；纤维蛋白/纤维蛋白原降解产物：26.9微克/毫升）。该患者被诊断为AML；根据法国-美国-英国分类，原始细胞形态无法分类。流式细胞术CD45设门显示原始细胞表达CD34、CD13、CD33和CD117。肿瘤细胞的G显带显示t(7;7)(p15;p22)易位[20/20]。患者接受了化疗。入院48天时，患者死于多器官功能衰竭。t(7;7)(p15;p22)易位涉及7号染色体p15，表明其与同源框基因有关。据我们所知，这是首例伴有t(7;7)(p15;p22)易位的AML患者报告，该易位是t(7;11)(p15;p15)易位的一种简单新型变体。
