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EBV-negative Aggressive NK-cell Leukemia/Lymphoma: Clinical, Pathologic, and Genetic Features.

EBV阴性侵袭性NK细胞白血病/淋巴瘤的临床、病理及分子遗传学特征

Nicolae A,Ganapathi KA,Pham TH,Xi L,Torres-Cabala CA,Nanaji NM,Zha HD,Fan Z,Irwin S,Pittaluga S,Raffeld M,Jaffe ES

Abstract

Aggressive natural killer cell leukemia (ANKL) is a systemic NK-cell neoplasm, almost always associated with Epstein-Barr virus (EBV). Rare cases of EBV-negative ANKL have been described, and some reports suggested more indolent behavior. We report the clinicopathologic, immunophenotypic, and molecular characteristics of 7 EBV-negative ANKL. All patients were adults, with a median age of 63 years (range 22 to 83 y) and an M:F ratio of 2.5:1. Five patients were White, 1 Black, and 1 Asian. All patients presented acutely, with fever (6/7), cytopenias (6/7), and splenomegaly (4/7). Four patients had lymphadenopathy, 4 had extranodal disease. Bone marrow involvement was present in 5, with hemophagocytosis in 3. Peripheral blood was involved in 5 with the neoplastic cells containing prominent azurophilic granules. By immunohistochemistry and/or flow cytometry, the tumor cells lacked surface CD3 and were positive for CD56 (7/7), CD2 (5/5), CD8 (3/7), CD30 (4/5), and granzyme-B (6/6). They were negative for CD4, CD5, βF1, TCRγ, LMP1, and EBV-encoded RNA. Polymerase chain reaction for TCRG clonality was polyclonal. Mutational analysis revealed missense mutations in the STAT3 gene in both cases studied. Median survival was 8 weeks from the onset of disease. One patient received allogeneic bone marrow transplant and is alive with no disease (follow-up 15 mo). EBV-negative ANKL exists but is rare. It tends to occur in older patients and is indistinguishable clinically and pathologically from EBV-positive ANKL, with a similar fulminant clinical course. The high prevalence of Asian patients seen with EBV-positive disease seems less evident with EBV-negative cases.

摘要

侵袭性NK细胞淋巴瘤(ANKL)是一种系统性NK细胞肿瘤,几乎总是与EB病毒(EBV)有关。罕见的EBV阴性ANKL已有报道,并且提示具有惰性生物学行为。

作者报道7例EBV阴性ANKL的临床病理、免疫表型及分子遗传学特征。7例均为成年人,年龄范围22-83岁,中位年龄63岁;男:女=2.5:1;5例白人,1例黑人,1例亚洲人。所有患者起病较急,伴发热(6/7)、血细胞减少(6/7)、脾肿大(4/7)。4例患者有淋巴结肿大,4例有结外疾病;5例有骨髓受累,3例具有吞噬红细胞现象;5例外周血受累,肿瘤细胞含显著的嗜天青颗粒。免疫组化和/或流式细胞学显示,肿瘤细胞缺乏表面抗原CD3的表达,表达CD56(7/7)、CD2 (5/5)、CD8 (3/7)、CD30 (4/5)和粒酶-B (6/6);不表达CD4、CD5、βF1、TCRγ、LMP1和EBV-编码RNA。聚合酶链反应显示TCRG为多克隆性,突变分析显示STAT3基因错义突变。从疾病发作开始,中位生存期为8周。1例患者接受了同种异体骨髓移植,随访15个月无病存活。EBV阴性的ANKL存在但罕见,倾向发生于老年患者,临床上起病急剧,与EBV阳性的ANKL无法鉴别。EBV阳性病变在亚洲人患病率高,这一点在EBV阴性病例似乎不太明显。

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