Ishida Fumihiro
Department of Biomedical Laboratory Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
Front Pediatr. 2018 Oct 10;6:292. doi: 10.3389/fped.2018.00292. eCollection 2018.
Aggressive NK cell leukemia (ANKL) is a rare malignant lymphoproliferative disorder of mature NK cells closely associated with Epstein-Barr virus (EBV) and more common in East Asia than in other areas. Significant variations exist in the morphology of ANKL tumor cells, from typical large granular lymphocyte morphology to highly atypical features with basophilic cytoplasm containing azurophilc granules. The main involved sites are hepatosplenic lesions, bone marrow and peripheral blood, and nasal or skin lesions are infrequent. A fever and liver dysfunction with an often rapidly progressive course are the main clinical symptoms, including hemophagocytic syndrome and disseminated intravascular coagulation. Although the outcome had been dismal for decades, with a median survival of less than three months, the introduction of combined chemotherapy including L-asparaginase and allogeneic hematopoietic cell transplantation has helped achieve a complete response and potential cure for some patients. With the advent of next-generation sequencing technologies, molecular alterations of ANKL have been elucidated, and dysfunctions in several signaling pathways, including the JAK/STAT pathway, have been identified. Novel target approaches to managing these abnormalities might help improve the prognosis of patients with ANKL.
侵袭性NK细胞白血病(ANKL)是一种罕见的成熟NK细胞恶性淋巴增殖性疾病,与爱泼斯坦-巴尔病毒(EBV)密切相关,在东亚比其他地区更常见。ANKL肿瘤细胞的形态存在显著差异,从典型的大颗粒淋巴细胞形态到具有含嗜天青颗粒的嗜碱性细胞质的高度非典型特征。主要累及部位为肝脾病变、骨髓和外周血,鼻或皮肤病变较少见。发热和肝功能障碍且病程往往快速进展是主要临床症状,包括噬血细胞综合征和弥散性血管内凝血。尽管数十年来预后一直很差,中位生存期不到三个月,但引入包括L-天冬酰胺酶和异基因造血细胞移植在内的联合化疗已帮助一些患者实现完全缓解并有可能治愈。随着下一代测序技术的出现,ANKL的分子改变已被阐明,并且已确定了包括JAK/STAT途径在内的几种信号通路的功能障碍。管理这些异常的新型靶向方法可能有助于改善ANKL患者的预后。