Acute lymphoblastic leukemia infiltrates any organs of the body, but infiltration in mammary gland is rare. Patients with breast masses as first manifestation are easy to be misdiagnosed as mammary adenocarcinoma. This article reported a case of acute lymphoblastic leukemia with breast masses as first manifestation. The patient was given a comprehensive examinations by immunohistochemistry, clonality analysis of IgH/TCR, conventional cytogenetics and flow cytometry. The results showed malignancy of B cells, positive IgH monoclonal rearrangement, expressions of B-lymphocyte series, which was diagnosed , in combination of bone marrow smears, as acute lymphoblastic leukemia. The patients received chemo-and radio-therapy and gained good results. Patients with breast masses as first manifestation should consider to have hematological examinations to reduce delayed diagnoses and treatment.%急性淋巴细胞白血病能够浸润全身任何器官,其中乳腺浸润非常罕见.以乳腺肿块为首发表现者极易误诊为乳腺癌.本文报道1例以乳腺肿块为首发表现的急性淋巴细胞白血病患者,通过免疫组化、免疫球蛋白重链(IgH)/ T细胞受体(TCR)单克隆重排的检测、白血病免疫表型等方法对该患者进行全面检查.结果 显示:免疫组化提示B细胞恶性肿瘤,IgH单克隆重排阳性,免疫表型为B-淋巴细胞系表达,结合骨髓涂片明确诊断为急性淋巴细胞(B细胞型)白血病.给予化疗加局部放疗,取得良好疗效.以乳腺肿块为首发表现者,应重视血液学检查,以减少因检查不足而延误诊断及治疗.
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