Guerreiro M, Príncipe F, Teles M J, Fonseca S, Santos A H, Fonseca E, Gomes P, Marques C, Lima M
Department of Clinical Hematology, Centro Hospitalar São João, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal.
Department of Clinical Pathology, Centro Hospitalar São João, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal.
Case Rep Hematol. 2017;2017:3724017. doi: 10.1155/2017/3724017. Epub 2017 Oct 15.
Aggressive natural killer cell leukemia (ANKL) is extremely rare and habitually manifests as a systemic disease with multiorgan failure that rapidly evolves to death. The neoplastic natural killer (NK) cells usually harbor the Epstein-Barr virus (EBV) with a latent viral infection pattern type II; they often have a cytoplasmic CD3 and surface CD3, CD2, and CD56 immunophenotype, and they show complex genetic abnormalities affecting multiple tumor suppressor genes and oncogenes. We present a rare case of CD56-negative ANKL and review the clinical and laboratorial criteria for the diagnosis, as well as the available therapies.
A European 36-year-old male presented with acute onset fever, pallor, weakness, and jaundice. He had hepatosplenomegaly, severe pancytopenia, hepatic cytolysis, and very high serum lactic dehydrogenase levels. The bone marrow studies resulted in the diagnosis of an EBV-positive, CD56-negative ANKL. The patient failed to respond to gemcitabine and cisplatin-based polychemotherapy, dying three months later with leukemic meningitis and multiple cranial nerves palsies.
The diagnosis of ANKL is difficult and requires both clinical suspicion and an extensive laboratorial approach. Absence of CD56 expression on the neoplastic NK cells may impose difficulties in the diagnosis, which requires morphological, immunophenotypic, histopathological, immunohistochemical, cytogenetic, and molecular studies.
侵袭性自然杀伤细胞白血病（ANKL）极为罕见，通常表现为一种伴有多器官功能衰竭的全身性疾病，病情迅速进展直至死亡。肿瘤性自然杀伤（NK）细胞通常携带爱泼斯坦-巴尔病毒（EBV），呈II型潜伏病毒感染模式；它们通常具有胞质CD3以及表面CD3、CD2和CD56免疫表型，并且显示出影响多个肿瘤抑制基因和癌基因的复杂基因异常。我们报告一例罕见的CD56阴性ANKL病例，并回顾其诊断的临床和实验室标准以及可用的治疗方法。
一名36岁欧洲男性，急性起病，有发热、面色苍白、乏力和黄疸症状。他有肝脾肿大、严重全血细胞减少、肝细胞溶解以及非常高的血清乳酸脱氢酶水平。骨髓检查确诊为EBV阳性、CD56阴性的ANKL。该患者对基于吉西他滨和顺铂的多药化疗无反应，3个月后死于白血病性脑膜炎和多条颅神经麻痹。
ANKL的诊断困难，需要临床怀疑以及广泛的实验室检查方法。肿瘤性NK细胞上CD56表达缺失可能给诊断带来困难，这需要进行形态学、免疫表型、组织病理学、免疫组织化学、细胞遗传学和分子研究。
