细胞基因组特征对于急性髓系白血病（AML）的分类和风险分层至关重要，从而促进治疗决策。我们检查了光学基因组图谱 (OGM) 在 159 名 AML 患者（103 名新诊断患者和 56 名难治性/复发患者）中的临床效用，所有患者还接受了染色体显带分析 (CBA)、荧光原位杂交和靶向下一代测序。 OGM 检测到 SCG 识别的几乎所有临床相关的细胞遗传学异常，其灵敏度 >99%，前提是克隆负荷高于 20%。 OGM 在 77 名 (48%) 患者中发现了额外的细胞基因组畸变和/或提供了融合基因的信息，其中包括 8 名核型正常的患者和 4 名核型分析失败的患者。 OGM 发现的最常见的其他改变包括色素发生 (n = 23)、KMT2A 部分串联重复 (n = 11)、涉及 MECOM 的重排 (n = 7)、NUP98 (n = 2)、KMT2A (n = 2)、JAK2 (n = 2)，以及 17 名患者的其他基因融合，其中 10 名患者显示出新的融合基因伴侣。 OGM 还确定了 17 名 (11%) 患者的融合基因，其中 OGM 和 CBA 同时检测到染色体重排。总体而言，24 个 (15%) 畸变由 OGM 独家识别，并且有可能改变 AML 分类、风险分层和/或临床试验资格。 OGM 成为识别融合基因和检测微妙或神秘的细胞基因组畸变的强大工具，否则 CBA 可能无法检测到这些畸变。© 2024 Wiley periodicals LLC。

Cytogenomic characterization is crucial for the classification and risk stratification of acute myeloid leukemia (AML), thereby facilitating therapeutic decision-making. We examined the clinical utility of optical genome mapping (OGM) in 159 AML patients (103 newly diagnosed and 56 refractory/relapsed), all of whom also underwent chromosomal banding analysis (CBA), fluorescence in situ hybridization, and targeted next-generation sequencing. OGM detected nearly all clinically relevant cytogenetic abnormalities that SCG identified with >99% sensitivity, provided the clonal burden was above 20%. OGM identified additional cytogenomic aberrations and/or provided information on fusion genes in 77 (48%) patients, including eight patients with normal karyotypes and four with failed karyotyping. The most common additional alterations identified by OGM included chromoanagenesis (n = 23), KMT2A partial tandem duplication (n = 11), rearrangements involving MECOM (n = 7), NUP98 (n = 2), KMT2A (n = 2), JAK2 (n = 2), and other gene fusions in 17 patients, with 10 showing novel fusion gene partners. OGM also pinpointed fusion genes in 17 (11%) patients where chromosomal rearrangements were concurrently detected by OGM and CBA. Overall, 24 (15%) aberrations were identified exclusively by OGM and had the potential to alter AML classification, risk stratification, and/or clinical trial eligibility. OGM emerges as a powerful tool for identifying fusion genes and detecting subtle or cryptic cytogenomic aberrations that may otherwise remain undetectable by CBA.© 2024 Wiley Periodicals LLC.