Wangulu Collins, Bahrami Hezaveh Ehsan, Zarif Mojgan, Zhou Qianghua, Lo Winnie, Wei Cuihong, Sibai Hassan, Chang Hong
Princess Margaret Cancer Biobank (PMCB), University Health Network, Toronto, ON M5G 2C4, Canada.
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5S 1V4, Canada.
Int J Mol Sci. 2025 Jun 18;26(12):5845. doi: 10.3390/ijms26125845.
The biology of Monosomal Karyotype Acute Myeloid Leukemia (MK AML) remains unclear, and its mutational profile has not been exclusively assessed. We sought to determine the genomic profile of MK AML patients and its correlation with overall survival (OS). We conducted a retrospective study involving 664 AML patients, identifying 156 (23.5%) with MK AML. The most common monosomies were -17 (41%) and -7 (37%), with 149 (95%) and 138 (88%) having myelodysplasia-related () cytogenetics and complex karyotype (), respectively. Frequent mutations included (69%), (19%), (13%), and (7%). Patients with MK AML with mutation () had shorter OS compared to those with wild-type () (median OS, 3.9 versus 9.2 months, = 0.002). Our validation study further supports this finding. There was no significant difference in OS related to the presence or absence of CK ( = 0.252), mutations ( = 0.252), ( = 0.264), ( = 0.264), and ( = 0.183) alterations. Co-mutation with novel EPI6 and TAZI signature alterations did not significantly impact OS among MK AML patients, suggesting that remains the dominant driver of outcome in this subgroup. In conclusion, MK AML is a genotypically diverse and high-risk group, with MK AML indicating worse prognosis.
单倍体核型急性髓系白血病（MK AML）的生物学特性仍不清楚，其突变谱也尚未得到专门评估。我们试图确定MK AML患者的基因组特征及其与总生存期（OS）的相关性。我们进行了一项回顾性研究，纳入664例AML患者，其中156例（23.5%）为MK AML。最常见的单体是-17（41%）和-7（37%），分别有149例（95%）和138例（88%）具有骨髓发育异常相关（）细胞遗传学和复杂核型（）。常见突变包括（69%）、（19%）、（13%）和（7%）。与野生型（）的患者相比，具有突变（）的MK AML患者的OS较短（中位OS，3.9个月对9.2个月，=0.002）。我们的验证研究进一步支持了这一发现。与是否存在CK（=0.252）、突变（=0.252）、（=0.264）、（=0.264）和（=0.183）改变相关的OS无显著差异。与新的EPI6和TAZI特征改变的共突变对MK AML患者的OS没有显著影响，这表明在该亚组中仍是影响预后的主要驱动因素。总之，MK AML是一个基因类型多样的高危组，MK AML提示预后更差。
