TdT阴性的淋巴母细胞淋巴瘤/急性淋巴细胞白血病临床特点、诊断及预后研究进展

doi:10.3969/j.issn.1674-8115.2023.01.016

上海交通大学学报（医学版） ›› 2023, Vol. 43 ›› Issue (1): 120-124.doi: 10.3969/j.issn.1674-8115.2023.01.016

• 综述 • 上一篇

TdT阴性的淋巴母细胞淋巴瘤/急性淋巴细胞白血病临床特点、诊断及预后研究进展

后书敏(), 邵静波()

上海市儿童医院，上海交通大学医学院附属儿童医院血液肿瘤科，上海 200040

收稿日期:2022-08-16 接受日期:2022-11-09 出版日期:2023-01-20 发布日期:2023-01-20
通讯作者: 邵静波 E-mail:hsm_18895670787@163.com;sjbobo@sina.com
作者简介:后书敏（1997—），女，硕士生；电子信箱：hsm_18895670787@163.com。
基金资助:
上海交通大学医学院附属儿童医院院级科研基金(2020YGZM05)

Research progress in clinical characteristics, diagnosis and prognosis of TdT-negative lymphoblastic lymphoma/acute lymphoblastic leukemia

HOU Shumin(), SHAO Jingbo()

Department of Hematology and Oncology, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200040, China

Received:2022-08-16 Accepted:2022-11-09 Online:2023-01-20 Published:2023-01-20
Contact: SHAO Jingbo E-mail:hsm_18895670787@163.com;sjbobo@sina.com
Supported by:
Scientific Foundation of Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine(2020YGZM05)

摘要/Abstract

摘要：

末端脱氧核苷酸转移酶（terminal deoxynucleotide transferase，TdT）是一种特殊类型的DNA聚合酶，它可以在无DNA复制模板的条件下将单个脱氧核苷酸结合到DNA分子的3'-OH端。TdT是造血系统中不成熟淋巴细胞中特异性较强的细胞内标记，在淋巴源性肿瘤的诊断中具有重要意义。淋巴母细胞淋巴瘤/急性淋巴细胞白血病（lymphoblastic lymphoma/acute lymphoblastic leukemia，LBL/ALL）的诊断依赖免疫分型。TdT通常在LBL/ALL中呈阳性表达，是临床诊断LBL/ALL的重要依据。TdT阴性的LBL/ALL在临床中较为少见，鉴于该分子诊断特异性较高，其阴性表达会给诊断带来一定的困难。TdT阴性的原因有多种，在淋巴细胞不同分化阶段中TdT的表达情况不同，另因不同检测方法的灵敏度不同，也可导致偶见TdT的假阴性。此外，有文献指出TdT阴性与TdT阳性的LBL/ALL在临床特点及预后方面亦不相同。了解TdT的表达意义、阴性的原因，以及阴性或阳性表达的LBL/ALL的不同特点，有助于临床诊断、治疗选择及预后判断。该文对国内外相关文献进行了梳理，就TdT阴性的原因及其表达阴性的LBL/ALL的临床特点、诊断及预后等进行综述。

关键词: 末端脱氧核苷酸转移酶, 淋巴母细胞淋巴瘤, 急性淋巴细胞白血病, 临床特点, 诊断, 预后

Abstract:

Terminal deoxynucleotide transferase (TdT) is a special deoxyribonucleic acid (DNA) polymerase. It can bind a single deoxynucleotide to the 3′-OH end of a DNA molecule in the absence of a template. TdT is a specific intracellular marker of immature lymphocytes in the hematopoietic system, which is of great significance in the diagnosis of lymphoid tumors. The diagnosis of lymphoblastic lymphoma/acute lymphoblastic leukemia (LBL/ALL) depends on immunotyping. TdT is usually positive in LBL/ALL, which is an important basis for clinical diagnosis of LBL/ALL. TdT-negative LBL/ALL is rare in clinical practice. Because of its strong specificity in diagnosis, negative TdT will bring certain difficulties to the diagnosis. There are many reasons for negative TdT. The expression of TdT is different in different differentiation stages of lymphocytes, and the sensitivity of different detection methods and the false negative of TdT can be seen occasionally. In addition, it has been reported that the clinical characteristics and prognosis of TdT-negative- and TdT-positive-LBL/ALL are different. Understanding the significance of TdT expression, the causes of negative TdT, and the different characteristics of TdT-negative- and TdT-positive-LBL/ALL are helpful for clinical diagnosis, treatment selection and prognosis judgment. In this paper, relevant literature at home and abroad is reviewed, and the causes of negative TdT, the clinical characteristics, diagnosis and prognosis of TdT-negative-LBL/ALL were reviewed.

Key words: terminal deoxynucleotide transferase (TdT), lymphoblastic lymphoma (LBL), acute lymphoblastic leukemia (ALL), clinical characteristics, diagnosis, prognosis

中图分类号:

R725.5

后书敏, 邵静波. TdT阴性的淋巴母细胞淋巴瘤/急性淋巴细胞白血病临床特点、诊断及预后研究进展[J]. 上海交通大学学报（医学版）, 2023, 43(1): 120-124.

HOU Shumin, SHAO Jingbo. Research progress in clinical characteristics, diagnosis and prognosis of TdT-negative lymphoblastic lymphoma/acute lymphoblastic leukemia[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2023, 43(1): 120-124.

参考文献 21

1	曹石, 周荔雯, 冯颖. TdT及其表达的研究进展[J]. 临床与实验病理学杂志, 2020, 36(10): 1190-1193.
	CAO S, ZHOU L W, FENG Y. Research progress of TdT and its expression[J]. Chinese Journal of Clinical and Experimental Pathology, 2020, 36(10): 1190-1193.
2	PIZZI M, BRIGNOLA S, RIGHI S, et al. Benign TdT-positive cells in pediatric and adult lymph nodes: a potential diagnostic pitfall[J]. Hum Pathol, 2018, 81: 131-137.
3	王媛媛. 荧光增强法检测末端脱氧核苷酸转移酶和碱性磷酸酶活性[D]. 广州: 暨南大学, 2019.
	WANG Y Y. Terminal deoxynucleotide transferase and alkaline phosphatase were detected by fluorescence enhanced assay[D]. Guangzhou: Jinan University, 2019.
4	ROSENBERG C A, BILL M, MAGUIRE O, et al. Imaging flow cytometry reveals a subset of TdT negative T-ALL blasts with very low forward scatter on conventional flow cytometry[J]. Cytometry B Clin Cytom, 2022, 102(2): 107-114.
5	吴秉铨, 刘彦仿. 免疫组织化学病理诊断[M]. 北京: 北京科学技术出版社, 2007: 490.
	WU B Q, LIU Y F. Immunohistochemical pathological diagnosis[M]. Beijing: Beijing Science and Technology Press, 2007: 490.
6	YASMEEN S, RAJKUMAR A, GROSSMAN H, et al. Terminal deoxynucleotidyl transferase (TdT)-negative lymphoblastic leukemia in pediatric patients: incidence and clinical significance[J]. Pediatr Dev Pathol, 2017, 20(6): 463-468.
7	HEIZMANN B, KASTNER P, CHAN S S. The Ikaros family in lymphocyte development[J]. Curr Opin Immunol, 2018, 51: 14-23.
8	WANG H J, SONG C H, GUREL Z, et al. Protein phosphatase 1 (PP1) and casein kinase Ⅱ (CK2) regulate Ikaros-mediated repression of TdT in thymocytes and T-cell leukemia[J]. Pediatr Blood Cancer, 2014, 61(12): 2230-2235.
9	程艳芹, 翟晓文, 陈莲. 儿童T淋巴母细胞淋巴瘤研究进展[J]. 中华实用儿科临床杂志, 2019, 34(1): 68-72.
	CHEN Y Q, ZHAI X W, CHEN L. Study progress of T-lymphoblastic lymphoma in children[J]. Chinese Journal of Applied Clinical Pediatrics, 2019, 34(1): 68-72.
10	ARBER D A, ORAZI A, HASSERJIAN R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia[J]. Blood, 2016, 127(20): 2391-2405.
11	赖文普, 谭获. T淋巴母细胞淋巴瘤的诊治与预后影响因素的研究现状[J]. 国际输血及血液学杂志, 2019, 42(4): 332-337.
	LAI W P, TAN H. Current research status of diagnosis, treatment and prognostic factors of T-lymphoblastic lymphoma[J]. International Journal of Blood Transfusion and Hematology, 2019, 42(4): 332-337.
12	BILOUS N I, ABRAMENKO I V, CHUMAK A A, et al. NOTCH1 mutations in chronic lymphocytic leukemia patients sufferers of Chornobyl NPP accident[J]. Probl Radiac Med Radiobiol, 2015, 20: 319-327.
13	FIELDING A K, BANERJEE L, MARKS D I. Recent developments in the management of T-cell precursor acute lymphoblastic leukemia/lymphoma[J]. Curr Hematol Malig Rep, 2012, 7(2): 160-169.
14	雷建园, 陈琳, 王原, 等. TdT阴性的淋巴母细胞性白血病/淋巴瘤3例临床病理观察[J]. 诊断病理学杂志, 2020, 27(8): 556-559.
	LEI J Y, CHEN L, WANG Y, et al. Terminal deoxynucleotidyl transferase-negative lymphoblastic lymphoma/leukemia: a clinicopathological analysis of three cases[J]. Chinese Journal of Diagnostic Pathology, 2020, 27(8): 556-559.
15	BHAKER P, DAS A, RAJWANSHI A, et al. Precursor T-lymphoblastic lymphoma: speedy diagnosis in FNA and effusion cytology by morphology, immunochemistry, and flow cytometry[J]. Cancer Cytopathol, 2015, 123(9): 557-565.
16	ZHOU Y, FAN X S, ROUTBORT M, et al. Absence of terminal deoxynucleotidyl transferase expression identifies a subset of high-risk adult T-lymphoblastic leukemia/lymphoma[J]. Mod Pathol, 2013, 26(10): 1338-1345.
17	HASSAN M, ABDULLAH H M A, WAHID A, et al. Terminal deoxynucleotidyl transferase (TdT)-negative T-cell lymphoblastic lymphoma with loss of the T-cell lineage-specific marker CD3 at relapse: a rare entity with an aggressive outcome[J]. BMJ Case Rep, 2018, 2018: bcr2018224570.
18	ROSHAL M, FROMM J R, WINTER S, et al. Immaturity associated antigens are lost during induction for T-cell lymphoblastic leukemia: implications for minimal residual disease detection[J]. Cytometry B Clin Cytom, 2010, 78(3): 139-146.
19	KLAIRMONT M M, ZHOU Y M, CHENG C, et al. Clinicopathologic and prognostic features of TdT-negative pediatric B-lymphoblastic leukemia[J]. Mod Pathol, 2021, 34(11): 2050-2054.
20	SABURI M, OGATA M, SATOU T, et al. Prognostic implications of TdT expression in acute myeloid leukemia with an intermediate-risk karyotype[J]. Int J Hematol, 2020, 112(1): 17-23.
21	DE BELLIS E, OTTONE T, MERCANTE L, et al. Terminal deoxynucleotidyl transferase (TdT) expression is associated with FLT3-ITD mutations in acute myeloid leukemia[J]. Leuk Res, 2020, 99: 106462.

[1]	邱佳辉, 蔡谦谦, 杨彦, 程非池, 裘正军, 黄陈. 神经脉管浸润联合肿瘤间质比对结直肠癌预后的预测价值[J]. 上海交通大学学报（医学版）, 2022, 42(8): 1070-1080.
[2]	卫雪敏, 高成金. ASPECT评分在急性缺血性脑卒中临床应用中的研究进展[J]. 上海交通大学学报（医学版）, 2022, 42(7): 919-924.
[3]	何冬梅, 杨驰. 下颌骨髁突骨折的诊治方案：基于上海交通大学医学院附属第九人民医院颞下颌关节中心的经验[J]. 上海交通大学学报（医学版）, 2022, 42(6): 695-701.
[4]	何冬梅, 杨驰. 颞下颌关节强直的诊治方案：基于上海交通大学医学院附属第九人民医院颞下颌关节中心的经验[J]. 上海交通大学学报（医学版）, 2022, 42(6): 702-708.
[5]	张善勇, 杨驰. 颞下颌关节骨关节炎的诊治方案：基于上海交通大学医学院附属第九人民医院颞下颌关节中心的经验[J]. 上海交通大学学报（医学版）, 2022, 42(6): 709-716.
[6]	董亚兵, 郝昀博, 张文豪, 王轶雯, 陈敏洁. 下颌第三磨牙拔除术后下牙槽神经损伤的功能检测及预后分析[J]. 上海交通大学学报（医学版）, 2022, 42(6): 717-722.
[7]	吕拥芬, 李嫔. 21-羟化酶缺乏症的分子诊断及临床意义[J]. 上海交通大学学报（医学版）, 2022, 42(5): 557-561.
[8]	朱田雨, 宗春燕, 许诗琼, 葛盛芳, 范先群, 贾仁兵. 结膜黑色素瘤组织病理学特征、Ki-67表达和预后的关系[J]. 上海交通大学学报（医学版）, 2022, 42(5): 617-623.
[9]	向晗, 向武, 张伟国. 获得性囊性肾病相关肾细胞癌的研究进展[J]. 上海交通大学学报（医学版）, 2022, 42(5): 680-684.
[10]	邢正文, 吴滢, 王雪莉, 王庆煜, 王文婷, 李治, 张彬, 金晶. 8例儿童卵巢颗粒细胞瘤临床病理特征及预后分析[J]. 上海交通大学学报(医学版), 2022, 42(2): 192-196.
[11]	林艳艳, 许岩, 李慧. 儿童急性淋巴细胞白血病化学治疗常规药物耐药机制的研究进展[J]. 上海交通大学学报(医学版), 2022, 42(2): 211-217.
[12]	邹弋华, 彭婕, 赵培泉. 先天性视盘凹陷性异常的临床特征与治疗研究进展[J]. 上海交通大学学报(医学版), 2022, 42(2): 230-234.
[13]	赵雪, 董春燕. WD40重复蛋白43在肺腺癌中的表达及其对细胞紫杉醇耐药的影响[J]. 上海交通大学学报（医学版）, 2022, 42(12): 1656-1665.
[14]	苏俊澄, 王禹铮, 唐雷, 徐迎春, 张凤春. 乳腺癌脑转移患者的临床病理特征及预后的影响因素分析[J]. 上海交通大学学报（医学版）, 2022, 42(11): 1562-1568.
[15]	顾殊能, 吴鹏飞, 武育蓉. 先天性血管环的产前产后诊治现状[J]. 上海交通大学学报（医学版）, 2022, 42(11): 1620-1626.

TdT阴性的淋巴母细胞淋巴瘤/急性淋巴细胞白血病临床特点、诊断及预后研究进展

Research progress in clinical characteristics, diagnosis and prognosis of TdT-negative lymphoblastic lymphoma/acute lymphoblastic leukemia

RichHTML

PDF (PC)

可视化

摘要/Abstract

引用本文

使用本文

参考文献 21

相关文章 15

编辑推荐

Metrics