Abstract：
A 62-year-old woman was presented at our hospital with visual disturbance. An ocular examination revealed bilateral Roth spots. Laboratory data revealed leukocytosis (236,200 µl) with an excess blast (11%). Physical examination and computed tomography (CT) showed systemic lymphadenopathy. A bone marrow examination revealed a composition of 9.2% blast. Chromosomal analysis on bone marrow cells revealed 46,XX,t (3;12)(q26.2;p13),t (9;22)(q34.1;q11.2) in 80% of metaphases (16/20). Inguinal lymph node biopsy revealed diffuse proliferation of myeloperoxidase (MPO)-positive abnormal cells. Fluorescence in situ hybridization analysis was used to detect the BCR-ABL1 fusion gene and split the signals of MECOM and ETV6. She was diagnosed with de-novo chronic myeloid leukemia (CML) extramedullary blast crisis. She received tyrosine kinase inhibitor (TKI) combination chemotherapy and allogeneic hematopoietic stem cell transplantation and achieved a major molecular response. In this study, we reported a case of CML in blast-phase initially presenting as extramedullary, in which cytogenetic and molecular analyses were useful in the staging method.
摘要：
我们医院出现了一名62岁的女性视力障碍。眼部检查发现双侧罗斯斑点。实验室数据显示白细胞增多（236,200μl）与过量的blast（11％）。体格检查和计算机断层扫描（CT）显示全身性淋巴结肿大。骨髓检查显示其成分为9.2％。骨髓细胞染色体分析显示46,XX,t（3；12）（q26.2；p13），t（9；22）（q34.1；q11.2）在80%的中期（16/20）。腹股沟淋巴结活检显示髓过氧化物酶（MPO）阳性异常细胞弥漫性增殖。荧光原位杂交分析用于检测BCR-ABL1融合基因并分裂MECOM和ETV6的信号。她被诊断出患有新发慢性粒细胞白血病（CML）髓外爆炸危机。她接受了酪氨酸激酶抑制剂（TKI）联合化疗和异基因造血干细胞移植，并获得了主要的分子反应。在这项研究中,我们报道了一例CML在爆炸期，最初表现为髓外，其中细胞遗传学和分子分析在分期方法中很有用。
