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Acute myeloid leukemia with rare recurring translocations—an overview of the entities included in the international consensus classification
Annals of Hematology ( IF 3.5 ) Pub Date : 2024-03-06 , DOI: 10.1007/s00277-024-05680-5
Synne D. Rørvik , Synne Torkildsen , Øystein Bruserud , Tor Henrik Anderson Tvedt

Two different systems exist for subclassification of acute myeloid leukemia (AML); the World Health Organization (WHO) Classification and the International Consensus Classification (ICC) of myeloid malignancies. The two systems differ in their classification of AML defined by recurrent chromosomal abnormalities. One difference is that the ICC classification defines an AML subset that includes 12 different genetic abnormalities that occur in less than 4% of AML patients. These subtypes exhibit distinct clinical traits and are associated with treatment outcomes, but detailed description of these entities is not easily available and is not described in detail even in the ICC. We searched in the PubMed database to identify scientific publications describing AML patients with the recurrent chromosomal abnormalities/translocations included in this ICC defined patient subset. This patient subset includes AML with t(1;3)(p36.3;q21.3), t(3;5)(q25.3;q35.1), t(8;16)(p11.2;p13.3), t(1;22)(p13.3;q13.1), t(5;11)(q35.2;p15.4), t(11;12)(p15.4;p13.3) (involving NUP98), translocation involving NUP98 and other partner, t(7;12)(q36.3;p13.2), t(10;11)(p12.3;q14.2), t(16;21)(p11.2;q22.2), inv(16)(p13.3q24.3) and t(16;21)(q24.3;q22.1). In this updated review we describe the available information with regard to frequency, biological functions of the involved genes and the fusion proteins, morphology/immunophenotype, required diagnostic procedures, clinical characteristics (including age distribution) and prognostic impact for each of these 12 genetic abnormalities.



中文翻译:

罕见反复易位的急性髓系白血病——国际共识分类中包含的实体概述

急性髓系白血病 (AML) 的亚分类有两种不同的系统:世界卫生组织(WHO)骨髓恶性肿瘤分类和国际共识分类(ICC)。这两个系统的不同之处在于根据复发性染色体异常对 AML 进行分类。一个区别是 ICC 分类定义了一个 AML 子集,其中包括 12 种不同的遗传异常,这些异常发生在不到 4% 的 AML 患者中。这些亚型表现出独特的临床特征并与治疗结果相关,但这些实体的详细描述并不容易获得,甚至在 ICC 中也没有详细描述。我们在 PubMed 数据库中进行了检索,以确定描述 AML 患者的科学出版物,这些患者患有复发性染色体异常/易位,包括在 ICC 定义的患者子集中。该患者子集包括 t(1;3)(p36.3;q21.3)、t(3;5)(q25.3;q35.1)、t(8;16)(p11.2;p13) 的 AML .3)、t(1;22)(p13.3;q13.1)、t(5;11)(q35.2;p15.4)、t(11;12)(p15.4;p13.3 )(涉及 NUP98),涉及 NUP98 和其他伙伴的易位,t(7;12)(q36.3;p13.2), t(10;11)(p12.3;q14.2), t(16;21 )(p11.2;q22.2)、inv(16)(p13.3q24.3) 和 t(16;21)(q24.3;q22.1)。在这篇更新的综述中,我们描述了这 12 种遗传异常中每一种的频率、所涉及基因和融合蛋白的生物学功能、形态/免疫表型、所需的诊断程序、临床特征(包括年龄分布)和预后影响等方面的可用信息。 。

更新日期:2024-03-06
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