Imataki Osamu, Uemura Makiko
Division of Hematology and Stem Cell Transplantation, Department of Internal Medicine, Faculty of Medicine, Kagawa University, Takamatsu, Japan.
Case Rep Oncol. 2020 Jul 14;13(2):849-852. doi: 10.1159/000508495. eCollection 2020 May-Aug.
An 80-year-old Japanese male was treated with chemotherapy consisting of cyclophosphamide, doxorubicin, vincristine, and prednisolone, for non-Hodgkin lymphoma. Nine months after the chemotherapy, he was diagnosed with acute myeloid leukemia (AML) (M4) with translocation 8p11 and 22q13. The patient bone marrow indicated a remarkable degree of sea-blue histiocytosis. His disease was aggressive, and he died of the disease. Sea-blue histiocytes are macrophages harboring blue vacuoles and granular deposition, which results from the phagocytosis of dead cells and the subsequent deposition of phospholipids. AML with the t(8; 22) (p11; q13) translocation is a rare subtype of AML, which is a rare translocation with a prevalence of less than 1.0% among all AML cases. The oncogenesis of t(8; 22) (p11; q13) is caused by the fusion protein monocytic leukemia zinc finger protein (MOZ) and transcription factor p300. MOZ can be fused to various translocation targets including CBT, TIF2, and p300, corresponding to t(8; 16), inv(8), and t(8; 22), respectively. This subgroup of AML reveals the hallmarks of the disease, including monocytic arrest and erythro/hemophagocytosis by blasts. A substantial proportion of the AML M4/M5 subtype harboring MOZ as an aberrant fusion gene represents erythrophagocytosis. Although rare, t(8; 22) is very specific to the AML M4/M5 subtype and seems to represent sea-blue histiocytosis as one of the characteristic features of monocytic AML with macrophage activation. Thus, sea-blue histiocytes are considered to be one of hallmarks in monocytic AML with MOZ translocation.
一名80岁日本男性因非霍奇金淋巴瘤接受了由环磷酰胺、阿霉素、长春新碱和泼尼松龙组成的化疗。化疗9个月后，他被诊断为伴有8p11和22q13易位的急性髓系白血病（AML）（M4型）。患者骨髓显示出显著程度的海蓝色组织细胞增多症。他的病情具有侵袭性，最终死于该疾病。海蓝色组织细胞是含有蓝色空泡和颗粒沉积的巨噬细胞，这是由于吞噬死亡细胞并随后沉积磷脂所致。伴有t(8; 22) (p11; q13)易位的AML是AML的一种罕见亚型，这种易位很少见，在所有AML病例中的发生率低于1.0%。t(8; 22) (p11; q13)的肿瘤发生是由融合蛋白单核细胞白血病锌指蛋白（MOZ）和转录因子p300引起的。MOZ可分别与包括CBT、TIF2和p300在内的各种易位靶点融合，分别对应于t(8; 16)、inv(8)和t(8; 22)。这一AML亚组显示出该疾病的特征，包括单核细胞停滞和原始细胞的红细胞吞噬/噬血细胞作用。相当一部分携带MOZ作为异常融合基因的AML M4/M5亚型表现为红细胞吞噬作用。尽管罕见，但t(8; 22)对AML M4/M5亚型非常特异，似乎代表海蓝色组织细胞增多症是具有巨噬细胞活化的单核细胞AML的特征之一。因此，海蓝色组织细胞被认为是伴有MOZ易位的单核细胞AML的特征之一。
