Abstract：
Granular acute lymphoblastic leukemia (ALL) is defined by the presence of intracytoplasmic granules in lymphoblastic blasts, mimicking acute myeloblastic leukemia. The disease is extremely rare in adults, and hence, the characteristics thereof are poorly understood. We report a case of a 70-year-old man diagnosed with granular ALL. Bone marrow examination showed blasts with azurophilic granules in the cytoplasm, but immunophenotyping showed B-ALL with aberrant expression of myeloid antigens CD13 and CD33. Karyotyping revealed monosomy 7, and targeted NGS showed DNMT3A mutation, which suggested poor prognosis. Despite conventional chemotherapy treatment, the patient did not achieve complete remission. He declined further chemotherapy treatment and was maintained on only supportive care. This is the first report of adult granular ALL with DNMT3A mutation and monosomy 7.
摘要：
颗粒性急性淋巴细胞白血病（ALL）的定义是在淋巴母细胞胞浆内颗粒的存在，模仿急性粒细胞白血病。这种疾病在成年人中极为罕见，因此，对其特征了解甚少。我们报告了一例70岁的男性，诊断为颗粒状ALL。骨髓检查显示细胞浆中有嗜天色颗粒，但免疫表型显示B-ALL有髓系抗原CD13和CD33的异常表达。核型分析显示二元体7，靶向NGS显示DNMT3A突变，这表明预后不良。尽管常规化疗,患者未达到完全缓解.他拒绝进一步的化疗治疗，只接受支持治疗。这是具有DNMT3A突变和单体7的成人颗粒状ALL的首次报道。
