摘要目的 探讨1例P53基因缺失和TCRδ基因重排克隆阳性的淋巴浆细胞样淋巴瘤/华氏巨球蛋白血症(lymphoplasmacytic lymphoma/Waldenstr(o)m macroglobulinemia,LPL/WM)的细胞学、免疫学以及遗传学特征,以辅助诊疗和预后.方法 采用骨髓常规和骨髓活检观察患者的细胞形态和免疫组织化学;用流式细胞术分析其细胞免疫学特征;用染色体核型和荧光原位杂交技术(fluorescence in situ hybridization,FISH)分析其遗传学特征;用聚合酶链反应(polymerase chain reaction,PCR)检测T细胞受体δ(T cell receptors δ,TCRδ)重排;用免疫固定电泳检测血清和尿单克隆免疫球蛋白M的表达,并评估口服苯丁酸氮芥片后的疗效.结果 患者骨髓中可见淋巴细胞、淋巴样浆细胞增多,免疫组织化学提示CD38(+)和CD138(+);流式细胞术提示其为B淋巴细胞;染色体分析为正常男性核型;FISH检测到P53基因缺失;外周血PCR检测到TCR重排克隆阳性;血清和尿免疫固定电泳提示IgM-κ型单克隆蛋白血症.患者接受苯丁酸氮芥片治疗后疗效评估部分缓解.结论 除典型的临床症状、骨髓检查、流式细胞术、染色体和免疫固定电泳检测外,LPL/WM的诊断尚需进行P53基因和淋巴细胞重排检查,这将有助于指导临床治疗和评估预后.

abstractsObjective To study the morphology, immunology, cyto-and molecular genetics of a patient with lymphoplasmacytic lymphoma/Waldenstr(o)m macroglobulinemia (LPL/WM), deletion of P53 gene and rearrangement of clonal T cell receptors δ (TCRδ) gene.Methods The cell morphology and immunocytochemistry were analyzed by bone marrow testing and biopsy.Cellular immunology was analyzed by flow cytometry.Genetic analysis was carried out by chromosome karyotyping, fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR).Immunoglobulin M (IgM) in serum and urine was assayed by immunofixation electrophoresis.And the effect of chlorambucil therapy was evaluated.Results Bone marrow biopsy suggested that the patient was of B lymphocyte type and had abnormal increase of lymphocytoid plasma cells, which were CD38 and CD138 positive.The patient had a normal male karyotype.FISH and PCR analysis of peripheral blood samples suggested deletion of P53 gene and rearrangement of TCRδ gene.Immunofixation electrophoresis has detected IgM-κ in both serum and urine.The patient showed partial response to chlorambucil.Conclusion In addition to typical clinical features,bone marrow examination, flow cytometry, histochemistry and immunophenotyping, testing for P53 gene deletion and lymphocyte gene rearrangement can facilitate the diagnosis and treatment of LPL/WM.