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首页> 外文期刊>Sao Paulo Medical Journal >Acute WT1-positive promyelocytic leukemia with hypogranular variant morphology, bcr-3 isoform of PML-RAR?± and Flt3-ITD mutation: a rare case report
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Acute WT1-positive promyelocytic leukemia with hypogranular variant morphology, bcr-3 isoform of PML-RAR?± and Flt3-ITD mutation: a rare case report

机译：急性WT1阳性早幼粒细胞白血病，具有低颗粒形态，PML-RAR？±和Flt3-ITD突变的bcr-3亚型：罕见病例报告

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CONTEXT: Acute promyelocytic leukemia (APL) accounts for 8% to 10% of cases of acute myeloid leukemia (AML). Remission in cases of high-risk APL is still difficult to achieve, and relapses occur readily. CASE REPORT: Here, we describe a case of APL with high white blood cell counts in blood tests and hypogranular variant morphology in bone marrow, together with fms-like tyrosine kinase-3 with internal tandem duplication mutations (FLT3-ITD), and bcr-3 isoform of PML-RAR?±. Most importantly, we detected high level of Wilmsa?? tumor gene (WT1) in marrow blasts, through the reverse transcription polymerase chain reaction (RT-PCR). To date, no clear conclusions about an association between WT1 expression levels and APL have been reached. This patient successively received a combined treatment regimen consisting of hydroxycarbamide, arsenic trioxide and idarubicin plus cytarabine, which ultimately enabled complete remission. Unfortunately, he subsequently died of sudden massive hemoptysis because of pulmonary infection. CONCLUSION: Based on our findings and a review of the literature, abnormal functioning of WT1 may be a high-risk factor in cases of APL. Further studies aimed towards evaluating the impact of WT1 expression on the prognosis for APL patients are of interest.
机译：背景：急性早幼粒细胞白血病（APL）占急性髓细胞性白血病（AML）病例的8％至10％。高危APL的缓解仍然很难实现，并且复发很容易发生。病例报告：在这里，我们描述一例血液检查中白细胞计数高，骨髓下颗粒变态形态的APL，以及具有内部串联重复突变（FLT3-ITD）和bcr的fms样酪氨酸激酶3 PML-RAR -3的-3亚型。最重要的是，我们检测到Wilmsa的水平很高？通过逆转录聚合酶链反应（RT-PCR）在骨髓胚细胞中发现肿瘤基因（WT1）。迄今为止，尚未获得关于WT1表达水平和APL之间关联的明确结论。该患者先后接受了由羟基脲，三氧化二砷和伊达比星加阿糖胞苷组成的联合治疗方案，最终实现了完全缓解。不幸的是，他随后因肺部感染而突然大量咯血而死。结论：根据我们的发现和文献回顾，WT1功能异常可能是APL的高危因素。旨在评估WT1表达对APL患者预后的影响的进一步研究令人感兴趣。

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