Department of Hematology, Laboratory of Cytometry, Hospital de Santo António, Centro Hospitalar do Porto, Rua D. Manuel II, s/n, 4099-001, Porto, Portugal.
Orphanet J Rare Dis. 2013 Jul 1;8:95. doi: 10.1186/1750-1172-8-95.
Mature natural killer (NK) cell neoplasms are classified by the World Health Organization into NK/T cell lymphoma, nasal type (NKTCL), aggressive NK-cell leukemia (ANKCL) and chronic lymphoproliferative disorders of NK-cells, the latter being considered provisionally. NKTCL and ANKCL are rare diseases, with higher prevalence in Asia, Central and South America. Most NKTCL present extranodal, as a destructive tumor affecting the nose and upper aerodigestive tract (nasal NKTCL) or any organ or tissue (extranasal NKTCL) whereas ANKCL manifests as a systemic disease with multiorgan involvement and naturally evolutes to death in a few weeks. The histopathological hallmark of these aggressive NK-cell tumors is a polymorphic neoplastic infiltrate with angiocentricity, angiodestruction and tissue necrosis. The tumor cells have cytoplasmatic azurophilic granules and usually show a CD45(+bright), CD2(+), sCD3(-), cytCD3epsilon(+), CD56(+bright), CD16(−/+), cytotoxic granules molecules(+) phenotype. T-cell receptor genes are in germ-line configuration. Epstein-Barr virus (EBV) -encoded membrane proteins and early region EBV RNA are usually detected on lymphoma cells, with a pattern suggestive of a latent viral infection type II. Complex chromosomal abnormalities are frequent and loss of chromosomes 6q, 11q, 13q, and 17p are recurrent aberrations. The rarity of the NK-cell tumors limits our ability to standardize the procedures for the diagnosis and clinical management and efforts should be made to encourage multi-institutional registries.
成熟自然杀伤 (NK) 细胞肿瘤根据世界卫生组织的分类包括 NK/T 细胞淋巴瘤、鼻型 (NKTCL)、侵袭性 NK 细胞白血病 (ANKCL) 和慢性 NK 细胞淋巴组织增生性疾病，后者被认为是暂定的。NKTCL 和 ANKCL 是罕见疾病，在亚洲、中美洲和南美洲的发病率较高。大多数 NKTCL 表现为结外疾病，表现为破坏鼻和上呼吸道的肿瘤（鼻型 NKTCL）或任何器官或组织（鼻外型 NKTCL），而 ANKCL 表现为全身性疾病，多器官受累，自然在数周内进展为死亡。这些侵袭性 NK 细胞肿瘤的组织病理学特征是具有血管中心性、血管破坏和组织坏死的多形性肿瘤浸润。肿瘤细胞具有细胞质嗜天青颗粒，通常表现为 CD45(+bright)、CD2(+)、sCD3(-)、胞浆 CD3epsilon(+)、CD56(+bright)、CD16(-/+)、细胞毒性颗粒分子(+)表型。T 细胞受体基因处于胚系构型。EB 病毒 (EBV) 编码的膜蛋白和 EBV 早期区 RNA 通常在淋巴瘤细胞上检测到，提示存在潜伏性病毒感染 II 型。复杂的染色体异常很常见，6q、11q、13q 和 17p 染色体缺失是常见的异常。NK 细胞肿瘤的罕见性限制了我们标准化诊断和临床管理程序的能力，应努力鼓励多机构登记。
