Moon Heewon, Huh Jungwon, Cho Min Sun, Chi Hyunsook, Chung Wha Soon
Department of Laboratory Medicine, School of Medicine, Ewha Womans University, Seoul, Korea.
Korean J Lab Med. 2007 Aug;27(4):253-6. doi: 10.3343/kjlm.2007.27.4.253.
The differential diagnosis of acute lymphoblastic leukemia (ALL) from other small round blue cell tumors in children is very important for proper treatment, but sometimes difficult. CD45 is expressed on almost all-human leukocytes and not expressed on other small round blue cell tumors. Moreover, CD19 is expressed on all stages of B lineage cells and loss of this antigen is very rare in precursor B-cell ALL. We report a case of ALL with atypical morphology and immunophenotype. A 6-yr-old girl presented with fever and weight loss. Many abnormal cells with variable sized, high nuclearcytoplasmic ratio and distinct nucleoli were counted 23% in bone marrow. The results of immunophenotyping were negative for CD45, CD19, CD10, CD20, CD3, CD5, CD7, CD56/16, CD13, and CD33 and positive for CD22, TdT, and CD34. The immunohistochemical staining of bone marrow biopsies was positive for CD79a, CD10, TdT and CD99. The cytogenetic study showed normal karyotype but amplification of MLL (myeloid/lymphoid or mixed lineage leukemia) gene was suggestive in the fluorescent in situ hybridization. The patient received the standard chemotherapy for acute lymphoblastic leukemia and reached complete remission.
儿童急性淋巴细胞白血病(ALL)与其他小圆形蓝细胞肿瘤的鉴别诊断对于恰当治疗非常重要,但有时颇具难度。CD45在几乎所有人类白细胞上表达,而在其他小圆形蓝细胞肿瘤上不表达。此外,CD19在B淋巴细胞系的所有阶段均表达,在前体B细胞ALL中这种抗原的缺失非常罕见。我们报告一例具有非典型形态和免疫表型的ALL病例。一名6岁女孩出现发热和体重减轻。骨髓中可见许多大小不一、核质比高且核仁明显的异常细胞,计数占23%。免疫表型分析结果显示,CD45、CD19、CD10、CD20、CD3、CD5、CD7、CD56/16、CD13和CD33呈阴性,而CD22、TdT和CD34呈阳性。骨髓活检的免疫组化染色显示CD79a、CD10、TdT和CD99呈阳性。细胞遗传学研究显示核型正常,但荧光原位杂交提示存在MLL(髓系/淋系或混合谱系白血病)基因扩增。该患者接受了急性淋巴细胞白血病的标准化化疗并达到完全缓解。