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。