Department of Pathology, University of Colorado School of Medicine, Aurora, CO, USA.
Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA.
Leuk Lymphoma. 2024 Dec;65(12):1820-1829. doi: 10.1080/10428194.2024.2382923. Epub 2024 Jul 25.
Near-tetraploidy/tetraploidy (NT/T) is a cytogenetic alteration in acute myeloid leukemia (AML). In AML, specific chromosomal alterations are associated with clinical, morphological, and immunophenotypic features. The impact of cytogenetics on the prognosis of AML is well established. However, the prognostic implication of NT/T on AML remains unclear. Our aim is to further characterize the clinical, morphologic, immunophenotypic, molecular mutational, and prognostic features of NT/T AML. This retrospective chart review of NT/T AML cases showed NT/T AML was more common in older adult males, with predominately large blasts and myelodysplasia-related features. The most common lineage of dysplasia was dysgranulopoiesis in 77.8% of cases. Cases displayed multiple cytogenetic abnormalities, with only four showing NT/T as the sole abnormality was the most common molecular mutation associated with NT/T AML (44.5%). Of the patients receiving treatment for NT/T AML, 80% achieved a CR. The median overall survival for the entire cohort was 4.5 months.
近四倍体/四倍体（NT/T）是急性髓系白血病（AML）的一种细胞遗传学改变。在 AML 中，特定的染色体改变与临床、形态学和免疫表型特征相关。细胞遗传学对 AML 预后的影响已得到充分证实。然而，NT/T 对 AML 的预后意义尚不清楚。我们的目的是进一步描述 NT/T AML 的临床、形态学、免疫表型、分子突变和预后特征。这项 NT/T AML 病例的回顾性图表审查显示，NT/T AML 在老年男性中更为常见，主要表现为大原始细胞和与骨髓增生异常相关的特征。最常见的发育不良谱系是 77.8%的病例中的颗粒细胞发育不良。病例显示出多种细胞遗传学异常，只有 4 例仅显示 NT/T 是最常见的与 NT/T AML 相关的分子突变（44.5%）。在接受 NT/T AML 治疗的患者中，80%达到了完全缓解。整个队列的中位总生存期为 4.5 个月。
