Mohamed Muhajir, Dun Karen, Grabek Julian
Department of Haematology, Launceston General Hospital, Launceston, Tasmania, Australia.
BMJ Case Rep. 2013 Sep 6;2013:bcr2013200152. doi: 10.1136/bcr-2013-200152.
Acute promyelocytic leukaemia (APML) is a malignancy with a high cure rate; however, delay in diagnosis or treatment can result in morbidity and mortality. APML has characteristic clinical, morphological, immunophenotypic and molecular features. In patients with acute leukaemia, a high index of suspicion is required to exclude APML. Very rarely APML patients at diagnosis can demonstrate atypical features. We reported a patient whose bone marrow features resembled acute myeloid leukaemia with predominantly agranular blasts, devoid of Auer rods and expressing CD34 and HLA-DR on flow cytometry. APML was not suspected initially but after cytogenetic and molecular genetic studies demonstrated t(15;17), appropriate therapy with ATRA+ chemotherapy was instituted and the patient showed remarkable and sustained response to treatment. This case highlights the fact that morphology and immunophenotyping are useful but not infallible indicators for these malignancies and, ultimate diagnoses will require detection of the characteristic molecular markers.
急性早幼粒细胞白血病（APML）是一种治愈率很高的恶性肿瘤；然而，诊断或治疗的延迟可能导致发病和死亡。APML具有特征性的临床、形态学、免疫表型和分子特征。在急性白血病患者中，需要高度怀疑以排除APML。极罕见情况下，APML患者在诊断时可表现出非典型特征。我们报告了一名患者，其骨髓特征类似于急性髓系白血病，主要为无颗粒的原始细胞，无Auer小体，流式细胞术检测显示表达CD34和HLA-DR。最初未怀疑为APML，但在细胞遗传学和分子遗传学研究显示t(15;17)后，给予全反式维甲酸（ATRA）联合化疗进行适当治疗，患者对治疗表现出显著且持续的反应。该病例突出了这样一个事实，即形态学和免疫表型分析对于这些恶性肿瘤是有用的指标，但并非绝对可靠，最终诊断需要检测特征性分子标志物。
