黄巾津.8例溶酶体运输调节因子杂合突变患者的临床特征及预后分析[J].内科急危重症杂志,2023,29(3):193-198
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| DOI：10.11768/nkjwzzzz20230305 |
| 中文关键词: 溶酶体运输调节因子杂合突变 Chediak-Higashi综合征 嗜血细胞综合征 EB病毒 NK细胞活性 |
| 英文关键词: |
| 基金项目:湖北省自然科学基金面上类项目（No:2020CFB432） |
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| 中文摘要: |
| 摘要 目的：研究8例携带溶酶体运输调节因子（LYST）杂合突变的病例，并总结其涉及的病种类型、临床表现和预后。方法：收集8例携带LYST杂合突变的血液病患者临床资料。纳入标准为经二代测序技术检测出携带LYST杂合突变的血液病患者，病种不限。结果：8例患者中3例为嗜血细胞综合征（HLH），2例NK细胞白血病，1例慢性活动性EB病毒感染（CAEBV），1例Chediak-Higashi综合征（CHS-1）继发HLH，1例再生障碍性贫血（AA）。多数患者外周血（血浆和/或单个核）EBV-DNA拷贝数升高，EBV-sorting技术检测发现B细胞、T细胞和NK细胞均可被感染，合并NK细胞活性明显下降。7例患者均有全身多部位淋巴结肿大，正电子发射计算机断层显像（PET-CT）的标准摄取值（SUV）中位数5.5（2.7~13.3）。3例HLH患者初始采用HLH94方案治疗，短期复发，死亡2例，失访1例。CHS-1继发HLH的患者初始单用地塞米松，神经症状很快好转，但短期嗜血复发，采用标准HLH94方案治疗后嗜血控制，总生存期（OS） 14个月。2例NK细胞白血病患者初始采用DEP+培门冬酶方案治疗，1例未缓解死亡，1例诱导治疗刚结束。1例CAEBV仍间断发热，OS 18个月。1例再生障碍性贫血的患者骨髓移植准备中，OS 3个月。结论：携带LYST杂合突变可涉及多种血液疾病，HLH起病居多，亦可表现为不典型CHS-1、NK细胞白血病、CAEBV和再生障碍性贫血。临床上可通过二代测序发现LYST突变，及时获得全面的诊断信息及判断预后。 |
| 英文摘要: |
| Abstract Objective: To investigate the characteristics of 8 patients carrying the lysosomal trafficking regulator (LYST) heterozygous mutation, including their disease types, clinical features and prognosis. Methods: A total of 8 patients carrying LYST heterozygous mutation were collected in the Department of Hematology in our center. The inclusion criteria were as follows: patients with LYST heterozygous mutations detected by next-generation sequencing technology with no limitation of the disease types. Results: Among 8 patients, 3 of them were diagnosed with hemophagocytic lymphohistiocytosis (HLH), 2 with NK-cell leukemia, one with chronic active EBV infection (CAEBV), one with Chediak-Higashi syndrome (CHS-1) secondary to HLH, and one with aplastic anemia (AA). Most patients had increased copies of EBV DNA in their peripheral blood plasma and/or mononuclear cells, and EBV-sorting assays found that B cells, T cells, and NK cells could be infected, accompanied with a significant decrease in NK cell activity. A total of 7 patients had enlarged lymph nodes at multiple sites with a median SUV value of 5.5 on PET-CT (range: 2.7-13.3). There were 3 patients with HLH who were initially treated with the HLH94 regimen, but they all relapsed in a short time with 2 deaths and 1 lost to follow-up. One patient with CHS-1 secondary to HLH was initially treated with dexamethasone alone and had quick relieve in his neurological symptoms. Standard HLH94 regimen was adopted because of his HLH relapse. He recovered well with overall survival (OS) of 14 months. There were 2 patients with NK cell leukemia who were initially treated with DEP plus pemesterase regimen, 1 died without remission and 1 has just finished the induction therapy. There was 1 case of CAEBV who still has intermittently febrile with OS of 18 months. There was 1 case of AA who is in the preparation of bone marrow transplant, with OS of 3 months. Conclusion: LYST heterozygous mutations can be associated with a variety of hematologic diseases, mostly HLH, but also atypical CHS-1, NK-cell leukemia, CAEBV and AA, and can be detected clinically by next-generation sequencing technology to obtain timely and comprehensive diagnostic information and prognosis. |
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