文档介绍：1 以皮肤损害和骨髓增生异常综合征首发的双表型急性白血病作者:刘英,唐锁勤,杨光,冯晨,刘立真,雷琦【摘要】本研究通过实例分析双表型急性白血病的临床、病理和生物学特征, 用骨髓细胞涂片观察肿瘤细胞的形态,流式细胞术和免疫组织化学检测肿瘤细胞的免疫表型, 常规染色体分析和多重巢式 RT 拟 PCR 检测染色体畸变。结果表明:本例以皮肤损伤和骨髓增生异常综合征为首发表现, 诊断时骨髓原始细胞超过 30% , 合并脑膜浸润; 肿瘤细胞体积大, 同时表达髓系标记( cMPO 、 CD33 和 CD117 )和 T 淋系标记( cCD3 、 CD5 、 CD7 、 CD4 和 CD8 双表达),并强烈表达最早期造血祖细胞标记 CD43 和 CD99 ,染色体核型正常,检测到 MLL 基因的部分串联重复。最后诊断为双表型急性白血病。结论: 双表型白血病的前期可表现为骨髓病态造血, 其临床和生物学行为具有高度侵袭性, 应用免疫表型、细胞遗传学和分子特征分析有助于这类疾病的早期诊断和预后评估。 2 【关键词】双表型急性白血病 Skin Lesions and Myelodysplastic Syndrome as Initial Manifestations of Biphenotypic Acute Leukemia Abstract The aim of this study was to investigate the clinical, pathological and biological features of biphenotypic acute leukemia. The morphology of tumor cells was observed by bone marrow examination; the immunophenotype was assayed by flow cytometry and immunohistochemistry; the chromosomal aberrations were detected by conventional chromosomal analysis and RT 拟 multiplex nested PCR. The results showed that extramedullary skin lesions and myelodysplasia occurred before the onset of overt disease. At the time of diagnosis, this case had more than 30% blasts in bone marrow with meningeal involvement. Large 拟 sized tumor cells predominated morphologically over other cells. Flow cytometry revealed the co拟 expression of myeloid antigens (cMPO, CD33 and CD117) and T拟 lymphoid antigens (cCD3, CD5, CD7, dual expression of CD4 and CD8). Immunohistochemical staining showed that CD43 and CD99 were strong positive which define the earliest hematopoietic 3 progenitors. Partial tandem duplication of the MLL gene could be detected with normal ic method. All above 拟 mentioned results led to the diagnosis of biphenotypic acute leukemia. It is concluded that the biphenotypic acute leukemia is an mon type of leukemia which may be preceded by myelodysplastic syndrome and has aggressive clinical and biological behavior. Immunophenotype, ics and molecular analysis can contribute to early diagnosis of BAL and evaluation of prognosis. K