Yeh Wilson, Tirado Carlos
The International Circle of Genetics Studies, Los Angeles, CA.
University of California, Los Angeles (UCLA), Los Angeles, CA.
J Assoc Genet Technol. 2021;47(3):122-126.
Acute myeloid leukemia (AML) is a heterogeneous malignancy of precursor myeloid cells. Identification and understanding of chromosomal abnormalities are key diagnostic and prognostic factors for patients with AML, as they play an important role in risk stratification algorithms. Hypodiploidy, a rare cytogenetic abnormality resulting in a karyotype with fewer than 46 chromosomes, is a rare finding in AML. It is often characterized by the involvement of chromosomes 5, 7, and/or 17, as well as the structural aberration t(8;21)(q22;q22), which is frequently accompanied by the clonal loss of a sex chromosome. Modal number (MN) has been shown to play a role in prognosis, with lower values associated with poorer survival. While hypodiploidy is frequently discussed within the context of acute lymphoblastic leukemia (ALL), its impact has garnered little relevance within AML studies. In this review, we aim to elucidate the characteristics of hypodiploidy in AML, investigate its prognostic significance, and explore its relationship with monosomal karyotypes, a more favored method of risk stratification.
急性髓系白血病(AML)是一种前体髓系细胞的异质性恶性肿瘤。识别和了解染色体异常是AML患者关键的诊断和预后因素,因为它们在风险分层算法中起着重要作用。亚二倍体是一种罕见的细胞遗传学异常,导致核型中染色体少于46条,在AML中是一种罕见的发现。它通常表现为5号、7号和/或17号染色体受累,以及结构畸变t(8;21)(q22;q22),后者常伴有性染色体的克隆性丢失。众数(MN)已被证明在预后中起作用,数值越低,生存率越低。虽然亚二倍体在急性淋巴细胞白血病(ALL)的背景下经常被讨论,但其影响在AML研究中几乎没有相关性。在本综述中,我们旨在阐明AML中亚二倍体的特征,研究其预后意义,并探讨其与单倍体核型的关系,单倍体核型是一种更受青睐的风险分层方法。