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黄赛 
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专业方向为血液病的综合诊治

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专业方向为血液病的综合诊治

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NUP98::CCDC28A融合基因阳性成人早期前体T细胞急性淋巴细胞白血病1例
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刘邵梅 1 , 陈平 2 , 刘要伟 3 , 董丽丽 2 , 窦立萍 3 , 黄赛 3
中国肿瘤临床 | 病例报告与分析 2025,52(14): 755-756
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中国肿瘤临床 | 病例报告与分析 2025, 52(14): 755-756
NUP98::CCDC28A融合基因阳性成人早期前体T细胞急性淋巴细胞白血病1例
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刘邵梅1 , 陈平2, 刘要伟3, 董丽丽2, 窦立萍3, 黄赛3
作者信息
  • 1中国人民解放军总医院第一医学中心检验科(北京市100853)
  • 2血液科
  • 3中国人民解放军总医院第五医学中心血液病医学部血液科
  • 专业方向为血液病的综合诊治

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出版时间: 2025-07-30 doi: 10.12354/j.issn.1000-8179.2025.20250988
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早期前体T细胞急性淋巴细胞白血病  /  融合基因  /  NUP98::CCDC28A
刘邵梅, 陈平, 刘要伟, 董丽丽, 窦立萍, 黄赛. NUP98::CCDC28A融合基因阳性成人早期前体T细胞急性淋巴细胞白血病1例. 中国肿瘤临床, 2025 , 52 (14) : 755 -756 . DOI: 10.12354/j.issn.1000-8179.2025.20250988
. Chinese Journal of Clinical Oncology, 2025 , 52 (14) : 755 -756 . DOI: 10.12354/j.issn.1000-8179.2025.20250988
患者女性,22岁,主诉双侧颜面浮肿伴颌下淋巴结肿大、发热6个月余。2021年12月患者就诊于解放军总医院第一医学中心。CT检查示:纵隔内、双侧腋窝及双侧腹股沟多发肿大淋巴结,前纵隔软组织密度影,盆腔少量积液;超声检查示:双侧颈部及锁骨上窝、双侧腋下及双侧腹股沟可见多发低回声结节;淋巴结穿刺病理示:结合形态学表现及免疫组化,符合T淋巴母细胞淋巴瘤;骨髓细胞形态学意见:多考虑淋巴瘤/白血病骨髓象,白血病细胞形态,见图1;骨髓免疫分型结果示:表型异常的幼稚T细胞占28.16%,表达CD7、CD38、CD33,少量细胞表达CD5、HLA-DR、胞浆CD3,不表达CD34、CD2、CD4、CD8、CD56、CD1a、胞浆TDT,考虑早期前体T细胞急性淋巴细胞白血病(early T-cell precursor acute lymphoblastic leukemia,ETP-ALL),免疫分型见图2;骨髓染色体核型分析为46,XX,t(6;11)(q24;p15),二代测序发现NUP98::CCDC28A融合基因的存在。综合患者临床表现及相关实验室检查,最终诊断为NUP98::CCDC28A融合基因阳性的ETP-ALL。
2022年1月1日患者行长春新碱+柔红霉素+环磷酰胺+泼尼松(VDCP)方案化疗,2022年1月29日复查骨髓,细胞形态学:原始、幼稚淋巴细胞占3.6%,免疫分型:表型可疑异常T细胞占0.66%。随后的化疗方案包括2022年2月1日行环磷酰胺+长春新碱+阿霉素+地塞米松(Hyper-CVAD-A)方案、2022年3月9日甲氨蝶呤+阿糖胞苷+亚叶酸钙+鞘内化疗(Hyper-CVAD-B)+培门冬酶方案、2022年4月27日另一种Hyper-CVAD-A方案,期间进行6次预防性腰椎穿刺鞘内注射。3次化疗后复查结果均为:细胞形态学持续缓解(complete response,CR),免疫分型检测微小残留病变(minimal residual disease,MRD)阴性,化疗过程中复查NUP98-CCDC28A融合基因转为阴性。患者CR后,行异基因造血干细胞移植,供者是其配型为同胞全合的姐姐,预处理方案为芦可替尼+西达苯胺+BU/CY+ATG,2022年6月回输供者外周血干细胞,共计MNC 10.3×108/kg,CD34+ 4.2×106/kg,+10 d粒系植入,+11 d血小板植入,+23 d复查:细胞形态学CR;免疫分型MRD阴性。截至目前(移植术后32个月)共计11次的移植术后评估中,均为形态学CR和免疫分型MRD阴性。
小结 ETP-ALL具有独特的免疫表型和特殊的分子生物学特征,而独特的免疫表型是其主要的诊断依据。ETP-ALL占成人T细胞急性淋巴细胞白血病(T cell acute lymphoblastic leukemia,T-ALL)的12.6%~47.6%,相较于其他T-ALL,ETP-ALL患者对一线诱导化疗方案反应差、总生存时间(overall survival,OS)和无事件生存期时间(event-free survival,EFS)均较短[1]。关于NUP98-CCDC28A融合基因的相关报道较少,既往仅在急性巨核细胞白血病和T-ALL中有过少量报道[2],而在一项关于NUP98基因重排在1491例急性白血病分布情况的最新研究中,发现有55例存在NUP98基因重排,其中NUP98-CCDC28A融合基因阳性的急性白血病总共发现两例,且白血病类型均为ETP-ALL[3],但未详述临床转归,本文通过详细报道1例NUP98-CCDC28A融合基因阳性的ETP-ALL患者的诊断、治疗及预后情况来对此进行补充。本病例与其他类似的病例[4-5]和共识中的预后部分[1]相比较,最大的区别是本患者在携带NUP98-CCDC28A融合基因情况下,采用了包括VDCP、Hyper-CVAD在内的4个周期的T-ALL标准化疗方案+异基因造血细胞干细胞移植术后取得了较长的EFS(32个月),且治疗过程顺利,未出现复发情况。而此患者取得如此好的预后与NUP98-CCDC28A融合基因是否相关仍需后续更多类似病例进行追踪研究,而其他预后不良的ETP-ALL患者可建议参与相关临床试验(如新型靶向药或免疫治疗研究),以期改善预后。
参考文献 引证文献
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Gindina T. t(6;11)(q24.1;p15.5) NUP98/CCDC28A[J]. Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2018, (6):244-245.
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Tian J, Zhu Y, Li J, et al. The landscape of NUP98 rearrangements clinical characteristics and treatment response from 1 491 acute leukemia patients[J]. Blood Cancer J , 2024, 14(1):81-89.
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盛俊杰,刘聪艳,万岁桂.早期前T淋巴母细胞白血病/淋巴瘤2例并文献复习[J].标记免疫分析与临床,2020,27(10):1663-1667.
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蒋皓云,金祺祺,韩叶,等.急性早期前体T淋巴母细胞白血病1例并文献复习[J].白血病·淋巴瘤,2022,31(7):423-426.
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doi: 10.12354/j.issn.1000-8179.2025.20250988
  • 接收时间:2025-07-22
  • 首发时间:2026-04-09
  • 出版时间:2025-07-30
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  • 收稿日期:2025-07-22
  • 修回日期:2025-08-09
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    1中国人民解放军总医院第一医学中心检验科(北京市100853)
    2血液科
    3中国人民解放军总医院第五医学中心血液病医学部血液科

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2种不同金属材料的力学参数

Family
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genus
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Number of
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占总种数比例
Percentage of
total species (%)

Genus
种数
Number of
species
占总种数比例
Percentage of total
species (%)
鹅膏菌科Amanitaceae 2 11 5.26 鹅膏菌属 Amanita 10 4.78
小菇科 Mycenaceae 2 12 5.74 丝盖伞属 Inocybe 5 2.39
多孔菌科 Polyporaceae 8 14 6.70 蜡蘑属 Laccaria 5 2.39
红菇科 Russulaceae 3 23 11.00 小皮伞属 Marasmius 6 2.87
小菇属 Mycena 11 5.26
光柄菇属 Pluteus 5 2.39
红菇属 Russula 17 8.13
栓菌属 Trametes 5 2.39
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