{"_":"携带-PTD的急性髓系白血病（AML）：是否应视为骨髓增生异常相关异常？","i":["KMT2A"]}

摘要(中文译文)

尽管急性髓系白血病伴骨髓增生异常相关改变（AML-MR）可以仅通过分子异常来定义，但既往研究并未分析该基因。部分串联重复（PTD）在骨髓增生异常肿瘤（MDS）及AML中均有描述。我们描述了携带PTD的AML的临床、形态学、免疫表型和分子特征。我们研究了802例成人AML患者，这些患者均具备基于下一代测序的突变和拷贝数分析数据。对于携带PTD的患者，我们分析了包括可测量残留病（MRD）在内的免疫表型分析、突变图谱及患者结局。我们识别出45例携带PTD的新发和继发性AML患者。在MDS中描述的形态学发育异常和免疫表型异常，在新发病例中分别占35.6%和40%。此外，44%的携带PTD的AML可基于细胞遗传学或基因组学诊断为AML-MR。我们观察到祖细胞异常，常见为CD7异常（33%）和CD15异常（59%），以及粒细胞异常，如侧向散射丢失（50%）、成熟不同步模式及成熟粒细胞中CD177丢失。注意到频繁涉及的突变包括（其中30%为R172）、（各32%）、（29%）以及（各24%）。我们还发现超过25%的患者未达到形态学缓解，其余60%为MRD阳性。携带PTD的AML伴或不伴MR相关异常的结局相似。携带PTD的AML常显示MR免疫表型异常，并常与AML-MR型突变相关。此外，其结局与AML-MR相似。

Abstract

Although acute myeloid leukaemia (AML), myelodysplasia-related (AML-MR), can be defined solely by molecular abnormalities, legacy studies did not analyse the gene. The -partial tandem duplication (-PTD) is described in myelodysplastic neoplasms (MDS) as well as AML. We describe the clinical, morphological, immunophenotypic and molecular features of AML harbouring PTD. We studied 802 adult AML patients, for whom next-generation sequencing- based mutation and copy number analysis were available. For the patients harbouring -PTD, the immunophenotypic analysis including measurable residual disease (MRD), mutational landscape and the patient outcomes were analysed. We identified 45 patients of de novo and secondary AML harbouring -PTD. Morphological dysplasia and immunophenotypic abnormalities, described in MDS, were observed in 35.6% and 40% of de novo cases respectively. Furthermore, 44% of AML with -PTD could be diagnosed as AML-MR based on cytogenetics or genomics. We observed progenitor abnormalities, commonly aberrant CD7 (33%) and CD15 (59%), and granulocytic abnormalities like loss of side scatter (50%), asynchronous maturation patterns and loss of CD177 in mature granulocytes. Frequent mutations involving (30% of which were R172), (32% each), (29%), and (24% each) were noted. We also found that more than 25% of patients did not achieve morphological remission, and the remaining 60% were MRD positive. The outcomes of AML with -PTD with or without MR-associated abnormalities were similar. AML harbouring -PTD frequently displays MR immunophenotypic abnormalities and is frequently associated with AML-MR type mutations. In addition, they have similar outcomes as compared with AML-MR.

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