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急性早幼粒细胞白血病伪装成髓系成熟阻滞——病例报告。

Acute promyelocytic leukemia masquerading as myeloid maturation arrest- A Case report.

机构信息

PATHOLOGY, Jawaharlal Institute of Postgraduate Medical Education, Puducherry, India.

Hematology, All India Institute of Medical Sciences, New Delhi, India.

出版信息

J Clin Exp Hematop. 2023;63(3):193-196. doi: 10.3960/jslrt.23030.

DOI:10.3960/jslrt.23030
PMID:37766564
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10628824/
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)是一种医学急症。APL 的诊断需要进行形态学检查、细胞化学、免疫表型分析以及 PML::RARA 或其变体的逆转录聚合酶链反应(RT-PCR)。然而,由于并发症的迅速发展,早期治疗通常依赖于形态学和细胞化学。在此,我们描述了一位 72 岁的男性患者,他因全血细胞减少症就诊,诊断为具有异常形态的急性早幼粒细胞白血病。骨髓涂片显示 80%的髓细胞样细胞有明显的颗粒和成熟停滞,偶尔有中性粒细胞。仔细重新检查外周血涂片和骨髓后,发现了一些偶尔保存不佳的细胞,这些细胞有一束 Auer 小体。异常早幼粒细胞的 MPO 细胞化学染色呈强阳性,流式细胞术显示 MPO、CD13、CD33 和 CD117 阳性,CD34 和 HLA-DR 阴性。细胞遗传学显示复杂核型为 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]。PML-RARA 的 RT-PCR 检测到 bcr-3 转录本阳性,FISH 检测到 t(15;17) (q24;q21) 阳性。从我们的病例中得到的重要启示是,每当存在全血细胞减少症和有明显颗粒的髓细胞样细胞时,都要寻找存在束状 Auer 小体的细胞。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6627/10628824/f91a9e937b61/jslrt-63-193-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6627/10628824/636593bdd99d/jslrt-63-193-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6627/10628824/a6482c78cc5a/jslrt-63-193-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6627/10628824/458c4741914c/jslrt-63-193-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6627/10628824/f91a9e937b61/jslrt-63-193-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6627/10628824/636593bdd99d/jslrt-63-193-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6627/10628824/a6482c78cc5a/jslrt-63-193-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6627/10628824/458c4741914c/jslrt-63-193-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6627/10628824/f91a9e937b61/jslrt-63-193-g004.jpg

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Genotypic and Phenotypic Characteristics of Acute Promyelocytic Leukemia Translocation Variants.急性早幼粒细胞白血病易位变异的基因表型特征。
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