中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
Chinese Journal of Medical Genetics
2015年
5期
674-678
,共5页
P53基因%TCRδ重排克隆%淋巴浆细胞淋巴瘤/华氏巨球蛋白血症
P53基因%TCRδ重排剋隆%淋巴漿細胞淋巴瘤/華氏巨毬蛋白血癥
P53기인%TCRδ중배극륭%림파장세포림파류/화씨거구단백혈증
P53 gene%TCRδ rearranged clone%Lymphoplasmacytic lymphoma/Waldenstr(o)m macroglobulinemia
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.
目的 探討1例P53基因缺失和TCRδ基因重排剋隆暘性的淋巴漿細胞樣淋巴瘤/華氏巨毬蛋白血癥(lymphoplasmacytic lymphoma/Waldenstr(o)m macroglobulinemia,LPL/WM)的細胞學、免疫學以及遺傳學特徵,以輔助診療和預後.方法 採用骨髓常規和骨髓活檢觀察患者的細胞形態和免疫組織化學;用流式細胞術分析其細胞免疫學特徵;用染色體覈型和熒光原位雜交技術(fluorescence in situ hybridization,FISH)分析其遺傳學特徵;用聚閤酶鏈反應(polymerase chain reaction,PCR)檢測T細胞受體δ(T cell receptors δ,TCRδ)重排;用免疫固定電泳檢測血清和尿單剋隆免疫毬蛋白M的錶達,併評估口服苯丁痠氮芥片後的療效.結果 患者骨髓中可見淋巴細胞、淋巴樣漿細胞增多,免疫組織化學提示CD38(+)和CD138(+);流式細胞術提示其為B淋巴細胞;染色體分析為正常男性覈型;FISH檢測到P53基因缺失;外週血PCR檢測到TCR重排剋隆暘性;血清和尿免疫固定電泳提示IgM-κ型單剋隆蛋白血癥.患者接受苯丁痠氮芥片治療後療效評估部分緩解.結論 除典型的臨床癥狀、骨髓檢查、流式細胞術、染色體和免疫固定電泳檢測外,LPL/WM的診斷尚需進行P53基因和淋巴細胞重排檢查,這將有助于指導臨床治療和評估預後.
목적 탐토1례P53기인결실화TCRδ기인중배극륭양성적림파장세포양림파류/화씨거구단백혈증(lymphoplasmacytic lymphoma/Waldenstr(o)m macroglobulinemia,LPL/WM)적세포학、면역학이급유전학특정,이보조진료화예후.방법 채용골수상규화골수활검관찰환자적세포형태화면역조직화학;용류식세포술분석기세포면역학특정;용염색체핵형화형광원위잡교기술(fluorescence in situ hybridization,FISH)분석기유전학특정;용취합매련반응(polymerase chain reaction,PCR)검측T세포수체δ(T cell receptors δ,TCRδ)중배;용면역고정전영검측혈청화뇨단극륭면역구단백M적표체,병평고구복분정산담개편후적료효.결과 환자골수중가견림파세포、림파양장세포증다,면역조직화학제시CD38(+)화CD138(+);류식세포술제시기위B림파세포;염색체분석위정상남성핵형;FISH검측도P53기인결실;외주혈PCR검측도TCR중배극륭양성;혈청화뇨면역고정전영제시IgM-κ형단극륭단백혈증.환자접수분정산담개편치료후료효평고부분완해.결론 제전형적림상증상、골수검사、류식세포술、염색체화면역고정전영검측외,LPL/WM적진단상수진행P53기인화림파세포중배검사,저장유조우지도림상치료화평고예후.
Objective 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.
