急性髓性白血病,细胞学检查有误导。

IF 2.2 4区 医学 Q3 HEMATOLOGY
Mayssa Gaaloul, Madalina Uzunov, Karim Maloum, Elise Sourdeau
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引用次数: 0

摘要

一名 78 岁的妇女因气喘和浅表出血就诊。血液检查显示全血细胞减少,伴有中性粒细胞减少(0.38×109/L)、贫血(94 克/升)和血小板减少(50×109/L)。外周血涂片显示有 9% 不成熟的高颗粒非典型细胞,形态上看起来像异常的原幼细胞,并经常含有成束的 Auer 杆状细胞(图 1A-C)。没有血吸虫。止血试验显示弥散性血管内凝血特征,低纤维蛋白原血症(0.6 克/升),D-二聚体升高(7038 毫克/升),V因子降低(61%),凝血酶原时间延长(19.1 秒)。活化部分凝血活酶时间正常(35.5 秒)。骨髓穿刺涂片显示,24%的细胞在形态上看起来像异常的原核细胞,带有成束的Auer棒(图1D),以及中度发育不良(低粒或粒小和一些萎缩性巨核细胞)。流式细胞术分析确定了一个延伸至成熟粒细胞区域的可塑性群体,表达 CD45(暗淡)、CD33、CD13、细胞质-骨髓过氧化物酶和 CD117(暗淡),但无 CD34、HLA-DR 或 CD15 表达(图 2)。她接受了血浆输注和全反式维甲酸治疗。然而,核型分析和荧光原位杂交没有检测到t(15;17)或任何其他异常。分子检测显示,TET2(c.3729dup,45%;c.3409+2T>A,49%)、SRSF2(c.284C>A,45%)和BRAF(c.1803A>T,2%)发生了突变,但没有发现PML::RARA重排。这些结果排除了 APL 的诊断,保留了伴有发育不良的急性髓性白血病(AML)的诊断。她接受了伊达比星和阿糖胞苷联合诱导化疗("3 + 7")。在这个病例中,细胞减少和形态异常提示急性髓性白血病伴有发育不良,但形态学模仿了APL并发弥散性血管内凝血。带有Auer杆束的前骨髓细胞是APL的特征性表现,但并不具有特异性,在非APL髓样肿瘤中也鲜有报道。只有少数几例模仿 APL 的 AML 病例被报道过。这些病例通常伴有细胞遗传学异常[(inv)16、t(8;21)、t(7;11)等]。本病例强调了快速细胞遗传学和分子检测的重要性,以便按照世界卫生组织的建议3准确描述急性髓细胞性白血病的特征,从而快速启动适当的治疗。MG和ES收集了所有生物学数据,MU和KM提供了临床数据。所有作者都参与了手稿的撰写。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Acute myeloid leukemia with misleading cytology

Acute myeloid leukemia with misleading cytology

A 78-year-old woman presented with asthenia and superficial bleeding. Blood tests revealed pancytopenia with neutropenia (0.38 × 109/L), anemia (94 g/L), and thrombocytopenia (50 × 109/L). The peripheral blood smear showed 9% immature hypergranular atypical cells morphologically looking like abnormal promyelocytes and frequently containing bundles of Auer rods (Figure 1A–C). No schistocytes were present. Hemostasis tests revealed features of disseminated intravascular coagulation with hypofibrinogenemia (0.6 g/L), elevated D-dimer (7038 mg/L), decreased factor V (61%), and prolonged prothrombin time (19.1 s). The activated partial thromboplastin time was normal (35.5 s). Bone marrow aspirate smear showed 24% cells morphologically looking like abnormal promyelocytes with bundles of Auer rods (Figure 1D), and moderate dysplasia (hypo or agranularity and some dystrophic megakaryocytes). Flow cytometry analysis identified a blastic population extending to the maturing granulocyte region, expressing CD45 (dim), CD33, CD13, cytoplasmic-myeloperoxidase and CD117 (dim) without CD34, HLA-DR or CD15 expression (Figure 2).

This clinical and biological presentation was consistent with acute promyelocytic leukemia (APL). She received a plasma transfusion and all-trans-retinoic acid. However, karyotyping and fluorescent in situ hybridization did not detect t(15;17) or any other abnormality. Molecular testing showed mutations of TET2 (c.3729dup, 45%; c.3409+2T>A, 49%), SRSF2 (c.284C>A, 45%), and BRAF (c.1803A>T, 2%), but not PML::RARA rearrangement. These results excluded the diagnosis of APL and acute myeloid leukemia (AML) with dysplasia was retained. Treatment was switched and she received an induction chemotherapy with a combination of Idarubicine and cytarabine (“3 + 7”).

In this case, the cytopenias and the morphological abnormalities suggested AML with dysplasia, but morphology mimicked APL complicated with disseminated intravascular coagulation. Promyelocytes with bundles of Auer rods are characteristically found in APL but are not specific, being rarely reported in non-APL myeloid neoplasms. Only a few cases of AML mimicking APL have been reported. They often present with cytogenetic abnormalities [(inv)16, t(8;21), t(7;11), etc.].1, 2 Our patient displayed normal karyotype but a myelodysplastic syndrome mutational profile. This case highlights the importance of rapid cytogenetic and molecular testing for an accurate characterisation of AML as recommended by World Health Organization,3 to quickly initiate the appropriate treatment.

MG and ES collected all the biological data, MU and KM provided clinical data. All authors contributed to writing the manuscript.

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来源期刊
CiteScore
4.50
自引率
6.70%
发文量
211
审稿时长
6-12 weeks
期刊介绍: The International Journal of Laboratory Hematology provides a forum for the communication of new developments, research topics and the practice of laboratory haematology. The journal publishes invited reviews, full length original articles, and correspondence. The International Journal of Laboratory Hematology is the official journal of the International Society for Laboratory Hematology, which addresses the following sub-disciplines: cellular analysis, flow cytometry, haemostasis and thrombosis, molecular diagnostics, haematology informatics, haemoglobinopathies, point of care testing, standards and guidelines. The journal was launched in 2006 as the successor to Clinical and Laboratory Hematology, which was first published in 1979. An active and positive editorial policy ensures that work of a high scientific standard is reported, in order to bridge the gap between practical and academic aspects of laboratory haematology.
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