Abstract：
Pure erythroid leukemia (PEL) is an extremely rare subtype of acute myeloid leukemia (AML). Although not specific, PEL is almost uniformly associated with complex karyotype and TP53 mutations. Given the rarity of the disease, our understanding of its cytogenetic and molecular features deems incomplete. We aim to complement existing literature by presenting an unusual case of PEL. The case is comprehensively worked up with multiple modalities. We present for the first time a case of PEL with unusual cytogenetic and molecular features: normal karyotype with absence of TP53 mutations and presence of NPM1 and NRAS mutations. This is a valuable addition to literature, expanding our understanding of molecular and cytogenetic spectra of PEL.
摘要：
纯性红系白血病(PEL)是一种极其罕见的急性髓系白血病(AML)亚型。虽然不具体,PEL与复杂核型和TP53突变几乎一致相关。鉴于这种疾病的稀有性,我们对其细胞遗传学和分子特征的理解认为是不完整的。我们的目标是通过介绍一个不寻常的PEL案例来补充现有文献。此案以多种方式进行了全面处理。我们首次介绍了具有异常细胞遗传学和分子特征的PEL病例：正常核型，不存在TP53突变以及存在NPM1和NRAS突变。这是对文学的宝贵补充，扩大我们对PEL分子和细胞遗传学谱的理解。
