Abstract：
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. TP53 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.
摘要：
近四倍体/四倍体（NT/T）是急性髓性白血病（AML）的细胞遗传学改变。在AML中，特定的染色体改变与临床相关，形态学,和免疫表型特征。细胞遗传学对AML预后的影响已得到证实。然而,NT/T对AML的预后意义尚不清楚.我们的目的是进一步表征临床，形态学,免疫表型,分子突变，和NT/TAML的预后特征。这项对NT/TAML病例的回顾性分析显示，NT/TAML在老年男性中更为常见，主要是大母细胞和骨髓增生异常相关的特征。在77.8％的病例中，最常见的发育不良谱系是粒细胞生成异常。病例显示多种细胞遗传学异常，只有四个显示NT/T作为唯一的异常。TP53是与NT/TAML相关的最常见的分子突变(44.5%)。在接受NT/TAML治疗的患者中，80%取得了CR。整个队列的中位总生存期为4.5个月。
