第5版WHO造血与淋巴组织肿瘤分类：前体淋巴细胞肿瘤分类更新解读

陈苏宁; 王谦

doi:10.13201/j.issn.1004-2806.2023.03.002

第5版WHO造血与淋巴组织肿瘤分类：前体淋巴细胞肿瘤分类更新解读

陈苏宁^1, ,,
王谦¹

- 苏州大学附属第一医院血液科(江苏苏州，215006)

详细信息

作者简介:
陈苏宁，苏州大学附属第一医院教授、主任医师，科技部中青年科技创新领军人才、百千万人才工程有突出贡献中青年专家、国务院特殊津贴获得者。任国家血液系统疾病临床医学研究中心副主任、江苏省血研所副所长、中华医学会血液学分会委员、白血病淋巴瘤学组副组长，主持美国白血病淋巴瘤协会项目、国家自然科学基金项目等10余项。在国内外期刊发表论文100余篇。作为主要完成人获国家科技进步奖二等奖2项、省部级科技进步一等奖3项

通讯作者: 陈苏宁，E-mail：chensuning@suda.edu.cn

中图分类号: R733.7

收稿日期: 2023-02-10

刊出日期: 2023-03-01

Interpretation of updates the 5th edition of the World Health Organization classification of precursor lymphoid neoplasms

CHEN Suning^1, ,,
WANG Qian¹

- Department of Hematology, the First Affiliated Hospital of Soochou University, Suzhou, 215006, China

More Information

Corresponding author: CHEN Suning, E-mail: chensuning@suda.edu.cn

Received Date: 10 February 2023

Publish Date: 01 March 2023

摘要

摘要: 2017年世界卫生组织(WHO)造血与淋巴组织肿瘤分类为前体淋巴细胞肿瘤的分型提供了重要诊断标准。近年来，随着高通量技术的发展，使我们对血液系统肿瘤有了新的认识。在2017年WHO分类的基础上，第5版WHO分型针对前体淋巴细胞肿瘤的分类作出了进一步更新。文章对第5版WHO分型前体淋巴细胞肿瘤更新的主要内容进行解读。
- 前体淋巴细胞肿瘤 /
- 急性白血病 /
- 分型
Abstract: In 2017, the World Health Organization(WHO) classification of tumors of haematopoietic and lymphoid tissues provided the diagnosis and classification criteria for precursor lymphoid neoplasms. With recent advances in genomic analyses such as next-generation sequencing techniques, major progress has been made in the understanding of precursor lymphoid neoplasms pathophysiology. Based on the 2017 WHO classification, the 5th edition of the WHO classification for precursor lymphoid neoplasms has been updated. In this paper, the classification of precursor lymphoid neoplasms is highlighted with the major changes.
- precursor lymphoid neoplasms /
- acute leukemia /
- classification

HTML全文

表 1 第5版WHO分型与第4版WHO分型修订版前体淋系肿瘤分类对照

第5版WHO分型	第4版WHO分型修订版
前体B淋巴细胞肿瘤	前体淋巴细胞肿瘤
kB淋巴母细胞白血病/淋巴瘤(B-ALL)	B淋巴母细胞白血病/淋巴瘤(B-ALL/LBL)
B-ALL，非特定类型	B-ALL/LBL，非特定类型
	B-ALL/LBL，伴重现性遗传学异常
B-ALL伴高超二倍体	B-ALL/LBL伴超二倍体
B-ALL伴亚二倍体	B-ALL/LBL伴亚二倍体
B-ALL伴iAMP21	B-ALL/LBL伴iAMP21
B-ALL伴BCR∷ABL1融合	B-ALL/LBL伴t(9；22)(q34.1；q11.2)；BCR-ABL1
B-ALL伴BCR∷ABL1样	B-ALL/LBL伴BCR-ABL1样
B-ALL伴KMT2A重排	B-ALL/LBL伴t(v；11q23.3)；KMT2A重排
B-ALL伴ETV6∷RUNX1融合	B-ALL/LBL伴t(12；21)(p13.2；q22.1)；ETV6-RUNX1
B-ALL伴ETV6∷RUNX1样
B-ALL伴TCF3∷PBX1融合	B-ALL/LBL伴t(1；19)(q23；p13.3)；TCF3-PBX1
B-ALL伴IGH∷IL3融合	B-ALL/LBL伴t(5；14)(q31.1；q32.1)；IGH/IL3
B-ALL伴TCF3∷HLF融合
B-ALL伴其他明确的遗传学异常
前体T淋巴细胞肿瘤
T淋巴母细胞白血病/淋巴瘤(T-ALL)	T淋巴母细胞白血病/淋巴瘤(T-ALL/LBL)
T-ALL，非特定类型	T-ALL/LBL，非特定类型
早期前体T淋巴细胞白血病/淋巴瘤	早期前体T淋巴细胞白血病
	NK淋巴母细胞白血病/淋巴瘤

下载: 导出CSV

参考文献(35)

[1]	Alaggio R, Amador C, Anagnostopoulos I, et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Lymphoid Neoplasms[J]. Leukemia, 2022, 36(7): 1720-1748. doi: 10.1038/s41375-022-01620-2
[2]	Roberts KG, Li Y, Payne-Turner D, et al. Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia[J]. New Engl J Med, 2014, 371(11): 1005-1015. doi: 10.1056/NEJMoa1403088
[3]	Roberts KG, Gu Z, Payne-Turner D, et al. High Frequency and Poor Outcome of Philadelphia Chromosome-Like Acute Lymphoblastic Leukemia in Adults[J]. J Clin Oncol, 2017, 35(4): 394-401. doi: 10.1200/JCO.2016.69.0073
[4]	Lilljebjörn H, Henningsson R, Hyrenius-Wittsten A, et al. Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia[J]. Nat Commun, 2016, 7: 11790. doi: 10.1038/ncomms11790
[5]	Lejman M, Chałupnik A, Chilimoniuk Z, et al. Genetic Biomarkers and Their Clinical Implications in B-Cell Acute Lymphoblastic Leukemia in Children[J]. Int J Mol Sci, 2022, 23(5): 2755. doi: 10.3390/ijms23052755
[6]	Gu Z, Churchman ML, Roberts KG, et al. PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia[J]. Nat Genet, 2019, 51(2): 296-307. doi: 10.1038/s41588-018-0315-5
[7]	Li W. The 5th Edition of the World Health Organization Classification of Hematolymphoid Tumors. In: Li W, editor. Leukemia[Internet][M]. Brisbane(AU): Exon Publications, 2022: 165-193.
[8]	Fischer U, Forster M, Rinaldi A, et al. Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options[J]. Nat Genet, 2015, 47(9): 1020-1029. doi: 10.1038/ng.3362
[9]	Hunger SP, Devaraj PE, Foroni L, et al. Two types of genomic rearrangements create alternative E2A-HLF fusion proteins in t(17;19)-ALL[J]. Blood, 1994, 83(10): 2970-2977. doi: 10.1182/blood.V83.10.2970.2970
[10]	Inaba H, Pui CH. Advances in the Diagnosis and Treatment of Pediatric Acute Lymphoblastic Leukemia[J]. J Clin Oncol, 2021, 10(9): 1926.
[11]	Novakova M, Zaliova M, Fiser K, et al. DUX4r, ZNF384r and PAX5-P80R mutated B-cell precursor acute lymphoblastic leukemia frequently undergo monocytic switch[J]. Haematologica, 2021, 106(8): 2066-2075.
[12]	Schinnerl D, Mejstrikova E, Schumich A, et al. CD371 cell surface expression: a unique feature of DUX4-rearranged acute lymphoblastic leukemia[J]. Haematologica, 2019, 104(8): e352-e355. doi: 10.3324/haematol.2018.214353
[13]	Yasuda T, Tsuzuki S, Kawazu M, et al. Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults[J]. Nat Genet, 2016, 48(5): 569-574. doi: 10.1038/ng.3535
[14]	Zhang J, McCastlain K, Yoshihara H, et al. Deregulation of DUX4 and ERG in acute lymphoblastic leukemia[J]. Nat Genet, 2016, 48(12): 1481-1489. doi: 10.1038/ng.3691
[15]	Jeha S, Choi J, Roberts KG, et al. Clinical significance of novel subtypes of acute lymphoblastic leukemia in the context of minimal residual disease-directed therapy[J]. Blood Cancer Dis, 2021, 2(4): 326-337. doi: 10.1158/2643-3230.BCD-20-0229
[16]	Li Z, Lee SHR, Chin WHN, et al. Distinct clinical characteristics of DUX4-and PAX5-altered childhood B-lymphoblastic leukemia[J]. Blood Advan, 2021, 5(23): 5226-5238. doi: 10.1182/bloodadvances.2021004895
[17]	Schwab C, Harrison CJ. Advances in B-cell Precursor Acute Lymphoblastic Leukemia Genomics[J]. Hema Sphere, 2018, 2(4): e53.
[18]	Gu Z, Churchman M, Roberts K, et al. Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia[J]. Nat Commun, 2016, 7: 13331. doi: 10.1038/ncomms13331
[19]	Suzuki K, Okuno Y, Kawashima N, et al. MEF2D-BCL9 Fusion Gene Is Associated With High-Risk Acute B-Cell Precursor Lymphoblastic Leukemia in Adolescents[J]. J Clin Oncol, 2016, 34(28): 3451-3459. doi: 10.1200/JCO.2016.66.5547
[20]	Ohki K, Kiyokawa N, Saito Y, et al. Clinical and molecular characteristics of MEF2D fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNPH1 gene fusion[J]. Haematologica, 2019, 104(1): 128-137. doi: 10.3324/haematol.2017.186320
[21]	Iacobucci I, Mullighan CG. Genetic Basis of Acute Lymphoblastic Leukemia[J]. J Clin Oncol, 2017, 35(9): 975-983. doi: 10.1200/JCO.2016.70.7836
[22]	Hirabayashi S, Ohki K, Nakabayashi K, et al. ZNF384-related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype[J]. Haematologica, 2017, 102(1): 118-129. doi: 10.3324/haematol.2016.151035
[23]	Li J, Dai Y, Wu L, et al. Emerging molecular subtypes and therapeutic targets in B-cell precursor acute lymphoblastic leukemia[J]. Front Med, 2021, 15(3): 347-371. doi: 10.1007/s11684-020-0821-6
[24]	Boer JM, Valsecchi MG, Hormann FM, et al. Favorable outcome of NUTM1-rearranged infant and pediatric B cell precursor acute lymphoblastic leukemia in a collaborative international study[J]. Leukemia, 2021, 35(10): 2978-2982. doi: 10.1038/s41375-021-01333-y
[25]	Forestier E, Johansson B, Borgström G, et al. Cytogenetic findings in a population-based series of 787 childhood acute lymphoblastic leukemias from the Nordic countries. The NOPHO Leukemia Cytogenetic Study Group[J]. Euro J Haematol, 2000, 64(3): 194-200. doi: 10.1034/j.1600-0609.2000.90103.x
[26]	Bomken S, Enshaei A, Schwalbe EC, et al. Molecular characterisation and clinical outcome of B-cell precursor acute lymphoblastic leukaemia with IG-MYC rearrangement[J]. Haematologica, 2022 Apr 28. doi: 10.3324/haematol.2021.280557.Epubaheadofprint.
[27]	Wagener R, López C, Kleinheinz K, et al. IG-MYC(+)neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas[J]. Blood, 2018, 132(21): 2280-2285. doi: 10.1182/blood-2018-03-842088
[28]	Herbrueggen H, Mueller S, Rohde J, et al. Treatment and outcome of IG-MYC(+)neoplasms with precursor B-cell phenotype in childhood and adolescence[J]. Leukemia, 2020, 34(3): 942-946. doi: 10.1038/s41375-019-0606-6
[29]	Mullighan CG, Goorha S, Radtke I, et al. Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia[J]. Nature, 2007, 446(7137): 758-764. doi: 10.1038/nature05690
[30]	Passet M, Boissel N, Sigaux F, et al. PAX5 P80R mutation identifies a novel subtype of B-cell precursor acute lymphoblastic leukemia with favorable outcome[J]. Blood, 2019, 133(3): 280-284. doi: 10.1182/blood-2018-10-882142
[31]	Bastian L, Schroeder MP, Eckert C, et al. PAX5 biallelic genomic alterations define a novel subgroup of B-cell precursor acute lymphoblastic leukemia[J]. Leukemia, 2019, 33(8): 1895-1909. doi: 10.1038/s41375-019-0430-z
[32]	Stanulla M, Dagdan E, Zaliova M, et al. IKZF1(plus)Defines a New Minimal Residual Disease-Dependent Very-Poor Prognostic Profile in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia[J]. J Clin Oncol, 2018, 36(12): 1240-1249. doi: 10.1200/JCO.2017.74.3617
[33]	Coustan-Smith E, Mullighan CG, Onciu M, et al. Early T-cell precursor leukaemia: a subtype of very high-risk acute lymphoblastic leukaemia[J]. Lancet Oncol, 2009, 10(2): 147-156. doi: 10.1016/S1470-2045(08)70314-0
[34]	Zhang J, Ding L, Holmfeldt L, et al. The genetic basis of early T-cell precursor acute lymphoblastic leukaemia[J]. Nature, 2012, 481(7380): 157-163. doi: 10.1038/nature10725
[35]	Di Giacomo D, La Starza R, Gorello P, et al. 14q32 rearrangements deregulating BCL11B mark a distinct subgroup of T-lymphoid and myeloid immature acute leukemia[J]. Blood, 2021, 138(9): 773-784.