Sato Kazuyuki, Sakai Hirotaka, Uchida Akiko, Uemura Yu, Tsuruoka Yuka, Yokoi Satoshi, Nishio Yuji, Matsunawa Manabu, Suzuki Yoshinori, Isobe Yasushi, Kato Masayuki, Tomita Naoto, Inoue Yasuyuki, Miura Ikuo
Department of Internal Medicine, Division of Hematology and Oncology, St. Marianna University School of Medicine.
Rinsho Ketsueki. 2017;58(4):315-322. doi: 10.11406/rinketsu.58.315.
A 70-year-old man with pancytopenia was referred to our hospital. His bone marrow comprised 75.4% leukemic blast cells and increased micromegakaryocytes. The leukemic cells were positive for myeloperoxidase and expressed CD2, CD13, CD33, CD34, CD56, CD117, HLA-DR, and MYC. Chromosomal analysis revealed 45,XY,t (3;8) (q26.2;q24),-7[6]/46,XY[14]. Fluorescence in situ hybridization revealed the rearrangement of the ecotropic viral integration site 1 (EVI1) gene. Thus, the patient was diagnosed as having acute myeloid leukemia (AML) with maturation, according to the WHO classification; he achieved complete cytogenetic remission after two courses of combination chemotherapy using anthracyclines and cytarabine. The t (3;8) translocation is a rare simple variant of the 3q26.2/EVI1 translocation, which is an adverse prognostic factor of AML. Clarifying the clinical features of leukemia in patients with simple variant translocations facilitates the development of therapies.
一名患有全血细胞减少症的70岁男性被转诊至我院。其骨髓中白血病原始细胞占75.4%，微巨核细胞增多。白血病细胞髓过氧化物酶呈阳性，表达CD2、CD13、CD33、CD34、CD56、CD117、HLA - DR和MYC。染色体分析显示为45,XY,t(3;8)(q26.2;q24),-7[6]/46,XY[14]。荧光原位杂交显示嗜异性病毒整合位点1（EVI1）基因重排。因此，根据世界卫生组织分类，该患者被诊断为急性髓系白血病（AML）伴成熟；在使用蒽环类药物和阿糖胞苷进行两个疗程的联合化疗后，他实现了完全细胞遗传学缓解。t(3;8)易位是3q26.2/EVI1易位的一种罕见简单变体，是AML的不良预后因素。明确简单变体易位患者白血病的临床特征有助于治疗方法的发展。
