Buchanan Justin, Tirado Carlos A
Pathology and Laboratory Medicine, UCLA Los Angeles, CA 90024.
J Assoc Genet Technol. 2016;42(1):24-33.
The t(16;21)(p11;q22) is a rare chromosomal abnormality that appears in approximately 1% of acute myeloid leukemia (AML) cases. Previously, between 50 and 60 cases have been reported. In this review, we will discuss the literature regarding t(16;21) as well as cases published. We compiled 68 cases from the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer as well as 10 additional cases in the literature, for a total of 78 cases. The t(16;21) results in the TLS(FUS)-ERG fusion protein, which is believed to function as a transcriptional activator in leukemogenesis and has been demonstrated to interfere in normal pre-mRNA splicing functions of FUS/TLS. Reverse-transcriptase polymerase chain reaction of fusion transcripts in patients, has been demonstrated to have diagnostic significance in monitoring for minimal residual disease. Cytogenetically, about half of the cases had secondary chromosomal abnormalities; we found that trisomy 8 and 10 were the most common abnormalities, occurring in 9.1% of the otal cases for each. t(16;21) in AML has been described with various morphological features, such as phagocytosis and vacuolation, and is present in multiple FAB types. Immunophenotypic characteristics such as CD33 and CD34 expression have also been noted, and several studies have examined the relation between CD56 receptor expression and t(16;21) AML. In general, t(16;21) in AML is associated with a poor prognosis and this abnormality could serve as cytogenetic indicator in determining diagnosis and prognosis. Herein, we summarize the cytogenetic features found in the the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer for t(16;21) in AML, as well as review the current literature associated with t(16;21), AML and its features.
t(16;21)(p11;q22)是一种罕见的染色体异常，约1%的急性髓系白血病（AML）病例中会出现。此前，已报告50至60例病例。在本综述中，我们将讨论关于t(16;21)的文献以及已发表的病例。我们从癌症染色体畸变和基因融合的米特尔曼数据库中收集了68例病例，并从文献中另外收集了10例病例，共计78例。t(16;21)会导致TLS(FUS)-ERG融合蛋白的产生，该蛋白被认为在白血病发生过程中起转录激活剂的作用，并且已被证明会干扰FUS/TLS的正常前体mRNA剪接功能。患者融合转录本的逆转录聚合酶链反应已被证明在监测微小残留病方面具有诊断意义。细胞遗传学方面，约一半的病例有继发性染色体异常；我们发现8号和10号染色体三体是最常见的异常，各占总病例数的9.1%。AML中的t(16;21)具有多种形态学特征，如吞噬作用和空泡形成，并且存在于多种FAB类型中。还注意到了免疫表型特征，如CD33和CD34表达，并且有几项研究探讨了CD56受体表达与t(16;21) AML之间的关系。一般来说，AML中的t(16;21)与不良预后相关，这种异常可作为确定诊断和预后的细胞遗传学指标。在此，我们总结了癌症染色体畸变和基因融合的米特尔曼数据库中AML的t(16;21)的细胞遗传学特征，并回顾了与t(16;21)、AML及其特征相关的当前文献。
