Tang Ruby, Cheng Amy, Guirales Fabian, Yeh Wilson, Tirado Carlos A
The International Circle of Genetics Studies, Los Angeles, CA.
University of California, Los Angeles (UCLA), Los Angeles, CA.
J Assoc Genet Technol. 2021;47(4):202-212.
Acute myeloid leukemia (AML) is a clonal disorder of myeloid lineage precursors. Identification of cytogenetic aberrations is essential for classification and risk stratification of AML, with many demonstrating unique associations with various clinicopathologic features. One such abnormality is MYC amplification, a rare occurrence identified in less than 1% of AML patients. MYC is most commonly amplified in the form of double minutes, but may also occur via ring and marker chromosomes or homogeneously staining regions. Amplification of MYC often involves various chromosomal aberrations, including trisomies 4 and 6 and aneusomy of the sex chromosomes. In many cases, the presence of MYC amplicons is also associated with other negative prognostic factors, including complex karyotype and advanced age. Although MYC has been extensively investigated as a therapeutic target in various cancers, there are few studies examining the clinical significance of MYC amplification in AML. In this review, we explore recurrent cytogenetic abnormalities and demographic characteristics associated with amplification of MYC in patients with AML and discuss their diagnostic and therapeutic implications.
急性髓系白血病(AML)是一种髓系谱系前体细胞的克隆性疾病。细胞遗传学异常的鉴定对于AML的分类和风险分层至关重要,许多异常显示出与各种临床病理特征的独特关联。其中一种异常是MYC扩增,这在不到1%的AML患者中是一种罕见现象。MYC最常见的扩增形式是双微体,但也可能通过环状和标记染色体或均匀染色区出现。MYC的扩增通常涉及各种染色体异常,包括4号和6号染色体三体以及性染色体非整倍体。在许多情况下,MYC扩增子的存在还与其他不良预后因素相关,包括复杂核型和高龄。尽管MYC作为各种癌症的治疗靶点已得到广泛研究,但很少有研究探讨MYC扩增在AML中的临床意义。在本综述中,我们探讨了AML患者中与MYC扩增相关的复发性细胞遗传学异常和人口统计学特征,并讨论了它们的诊断和治疗意义。