关键词: PML-RARA acute promyelocytic leukemia complex karyotype maturation arrest

Mesh : Male Humans Aged Leukemia, Promyelocytic, Acute / diagnosis genetics Pancytopenia Flow Cytometry Immunophenotyping

来  源:   DOI:10.3960/jslrt.23030   PDF(Pubmed)

Abstract:
Acute promyelocytic leukemia (APL) is a medical emergency. The diagnosis of APL requires morphological examination, cytochemistry, immunophenotyping, and reverse transcriptase polymerase chain reaction (RT-PCR) for PML::RARA or its variants. However, due to the rapid development of complications, diagnosis often relies on morphology and cytochemistry for early treatment. Herein, we describe a 72-year-old gentleman who presented with pancytopenia diagnosed as acute promyelocytic leukemia with an unusual morphology. The bone marrow smear showed 80% myelocyte-like cells with prominent granules and maturation arrest, with an occasional neutrophil. On careful re-examination of the peripheral smear and bone marrow, an occasional poorly preserved cell with a bundle of Auer rods was identified. Cytochemistry for MPO was strongly positive in abnormal promyelocytes and flow cytometry showed positivity for MPO, CD13, CD33, and CD117 and was negative for CD34 and HLA-DR. Cytogenetics showed a complex karyotype of 45,XY, -14, t(15;17)(q24;21)t(14;21)(q11.2;p13)[10]/ 45, XY, idem, add(5)(q35)[5]/ 45,X,-Y[5]. RT-PCR for PML-RARA was positive for the bcr-3 transcript and FISH was positive for t(15;17) (q24;q21). The take home point from our case is to look for the presence of cells with bundle of Auer rods whenever there is pancytopenia with the presence of myelocyte-like cells with prominent granulations.
摘要:
急性早幼粒细胞白血病(APL)是一种医疗紧急情况。APL的诊断需要形态学检查,细胞化学,免疫表型,和用于PML::RARA或其变体的逆转录酶聚合酶链反应(RT-PCR)。然而,由于并发症的迅速发展,诊断通常依赖于形态学和细胞化学进行早期治疗。在这里,我们描述了一位72岁的绅士,他患有全血细胞减少症,被诊断为急性早幼粒细胞白血病,形态异常。骨髓涂片显示80%的髓细胞样细胞具有突出的颗粒和成熟停滞,偶有中性粒细胞.在仔细重新检查外周涂片和骨髓后,偶尔发现一个保存不良的细胞,带有一束Auer棒。在异常的早幼粒细胞中,MPO的细胞化学强阳性,流式细胞术显示MPO阳性,CD13,CD33和CD117,CD34和HLA-DR阴性。细胞遗传学显示45,XY的复杂核型,-14,t(15;17)(q24;21)t(14;21)(q11.2;p13)[10]/45,XY,idem,添加(5)(q35)[5]/45,X,-Y[5]。PML-RARA的RT-PCR对bcr-3转录物呈阳性,而FISH对t(15;17)(q24;q21)呈阳性。从我们的案例中得到的重点是,每当存在全血细胞减少症,并存在具有明显颗粒的髓细胞样细胞时,寻找具有Auer杆束的细胞的存在。
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