| 陈宇,匡增丽,任翠爱.罕见表型(CD56-/CD158a+)侵袭性NK细胞白血病伴噬血细胞综合征1例并文献复习[J].安徽医药,待发表. |
| 罕见表型(CD56-/CD158a+)侵袭性NK细胞白血病伴噬血细胞综合征1例并文献复习 |
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| 投稿时间：2026-04-29 录用日期：2026-06-15 |
| DOI： |
| 中文关键词: 侵袭性NK细胞白血病 噬血细胞综合征 EB病毒 杀伤细胞免疫球蛋白样受体 培门冬酶 |
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| 中文摘要: |
| 【摘要】 目的： 探讨不典型起病且合并罕见表型侵袭性NK细胞白血病（ANKL）继发噬血细胞综合征（HLH）的临床特征、诊断要点及治疗策略。方法： 回顾性分析2026年1月我院收治的1例ANKL伴HLH患者的临床资料，结合病理形态、免疫分型、二代测序结果及国内外相关文献进行分析。结果： 患者男，56岁，以双下肢及阴囊水肿首发。实验室检查示全血细胞减少，外周血EB病毒（EBV）DNA高载量，血清铁蛋白显著升高，伴高甘油三酯及低纤维蛋白原。骨髓流式细胞术示异常细胞群CD56阴性，但单克隆表达NK细胞受体CD158a阳性。骨髓活检组织原位杂交EBER阳性。确诊为ANKL伴继发性HLH。初诊时予HLH-94方案诱导控制高炎症状态，随后序贯以培门冬酶为基础的L-DEP方案化疗。目前患者病情稳定，获微小残留病变（MRD）阴性。结论： 经检索PubMed、CNKI等中外主流数据库，未检索到同时具备CD56阴性及CD158a单克隆表达的ANKL相似报道（类似病例数为0），该罕见表型在临床极易误诊。对于非典型病例，KIRs抗原（如CD158a）的单克隆表达及EBER检测是明确诊断的关键。对于合并HLH者，早期采用HLH方案诱导序贯含培门冬酶的联合方案可有效控制病情；伴TP53等多基因突变者复发风险高，具备条件时应尽早行异基因造血干细胞移植。 |
| 英文摘要: |
| Objective: To investigate the clinical characteristics, diagnosis, and treatment strategies for rare-phenotype aggressive NK-cell leukemia (ANKL) complicated by hemophagocytic lymphohistiocytosis (HLH). Methods: We retrospectively analyzed the clinical data, immunophenotyping, and next-generation sequencing results of a patient diagnosed with ANKL and HLH in January 2026, along with a literature review. Results: A 56-year-old male initially presented with edema of the lower extremities and scrotum. Laboratory tests revealed pancytopenia, high Epstein-Barr virus (EBV) DNA load，markedly elevated serum ferritin，hypertriglyceridemia, and hypofibrinogenemia. Flow cytometry of the bone marrow showed an abnormal cell population with a CD56-negative phenotype, but demonstrating monoclonal expression of the KIR receptor CD158a. In situ hybridization for EBER on the bone marrow biopsy was positive. The diagnosis of ANKL with secondary HLH was confirmed. The patient was initially treated with the HLH-94 regimen to control the hyperinflammatory state, sequentially followed by a pegaspargase-based L-DEP regimen. The patient’s condition stabilized, and minimal residual disease (MRD) turned negative. Conclusion: A comprehensive search of major databases, including PubMed and CNKI, yielded zero similarly reported cases of ANKL simultaneously featuring a CD56-negative phenotype and CD158a monoclonal expression. This rare phenotype is prone to misdiagnosis. Detecting monoclonal expression of KIRs (e.g., CD158a) and EBER is crucial for diagnosing atypical cases. Sequential combination chemotherapy containing pegaspargase after initial HLH-directed therapy is effective. Patients with multiple mutations, such as TP53, have a high risk of relapse and should be evaluated for early allogeneic hematopoietic stem cell transplantation. |
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