细胞遗传学
三体
三体8
内科学
医学
髓系白血病
骨髓增生异常综合症
染色体异常
总体生存率
白血病
非整倍体
肿瘤科
异常
髓样
胃肠病学
核型
骨髓
生物
染色体
基因
遗传学
精神科
作者
Adelaide Kwon,Miguel D. Cantu,Yazan F. Madanat,Robert P. Hasserjian,Prasad Koduru,Sa Wang,Guilin Tang,Olga K. Weinberg
摘要
ABSTRACT Introduction The 2022 WHO and ICC classifications identify MDS‐related cytogenetic abnormalities and secondary gene mutations (SM) that in de novo disease are diagnostic of myelodysplasia‐related AML, which confers a poorer prognosis. While most MDS‐related abnormalities overlap between the two classifications, trisomy 8 (+8) is unique to the ICC and has not been previously included as an MDS‐related abnormality. In light of this, we sought to determine the prognostic significance of +8 as an MDS‐related abnormality in patients with de novo AML lacking other MDS‐related cytogenetics. Methods We identified 337 patients with de novo AML lacking MDS‐related cytogenetics other than +8 and analyzed clinicopathologic outcomes, overall survival (OS), and relapse‐free survival (RFS). Two groups were identified: AML with SM ( n = 195, 57.9%) and AML without SM ( n = 142, 42.1%). Fifty‐nine (17.5%) patients had +8; 39 (66.1%) of these had at least one SM, while 20 (33.9%) did not. Results Among patients treated with induction or hypomethylating agents ( n = 317), OS and RFS were significantly shorter in patients with SM than without (OS: p = 0.001, RFS: p = 0.0004) but not significantly different between patients with and without +8 (OS: p = 0.15, RFS: p = 0.35). Similarly, when cases were limited to those with SM ( n = 179), no significant difference in OS or RFS was observed between patients with and without +8 (OS: p = 0.21, RFS: p = 0.30). There was no significant association between +8 and SM ( p = 0.15). Conclusion In our cohort, unlike MDS‐related SM, trisomy 8 does not influence OS or RFS, despite its inclusion in the ICC as an MDS‐related abnormality.
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