中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2010年
2期
214-216
,共3页
王彤%邱镜滢%马晓兰%贾晓鹏%王艳平%余蕙君%李环%童春容
王彤%邱鏡瀅%馬曉蘭%賈曉鵬%王豔平%餘蕙君%李環%童春容
왕동%구경형%마효란%가효붕%왕염평%여혜군%리배%동춘용
多发性骨髓瘤%衍生染色体%荧光原位杂交
多髮性骨髓瘤%衍生染色體%熒光原位雜交
다발성골수류%연생염색체%형광원위잡교
multiple myeloma%derivative chromosome%fluorescence in situ hybridization
目的 对1例伴有不平衡染色体易位der(Y)t(Y;1)的多发性骨髓瘤(multiple myeloma,MM)患者进行细胞遗传学、中期荧光原位杂交、免疫学及临床研究.方法 采用细胞遗传学G显带行中期染色体核型分析;用1号染色体涂抹探针、Y染色体异染色质区探针进行中期荧光原位杂交检测;免疫分型检测CD38、CD138、ZAP70等的表达及免疫电泳检测免疫球蛋白类型等.结果 细胞遗传学分析结果 发现患者具有高度复杂的异常克隆,其核型为:92,XXYY[3]/49,X,der(Y)t(Y;1)(q12;q21),t(11;14)(q13;q32),+18,+20,+21[47]/49,X,idem,del(13q22),ace[1]/98,XX,der(Y)t(Y;1)×2,+18,+18,+20,+20,+21,+21[10]/46,XY[19].中期荧光原位杂交结果 证实der(Y)t(Y;1)的G显带结果 ,为1q部分三体与Y染色体长臂的不平衡易位.其异常的单克隆免疫球蛋白为IgD,定量6.24 g/L;免疫分型结果 为表达CD38、CD138,不表达ZAP70,考虑为异常克隆浆细胞的表达.结论 Y染色体的结构异常在血液系统肿瘤中非常罕见,本文报道1例发生于多发性骨髓瘤中的伴der(Y)t(Y;1)的核型异常、实验室及临床特点.
目的 對1例伴有不平衡染色體易位der(Y)t(Y;1)的多髮性骨髓瘤(multiple myeloma,MM)患者進行細胞遺傳學、中期熒光原位雜交、免疫學及臨床研究.方法 採用細胞遺傳學G顯帶行中期染色體覈型分析;用1號染色體塗抹探針、Y染色體異染色質區探針進行中期熒光原位雜交檢測;免疫分型檢測CD38、CD138、ZAP70等的錶達及免疫電泳檢測免疫毬蛋白類型等.結果 細胞遺傳學分析結果 髮現患者具有高度複雜的異常剋隆,其覈型為:92,XXYY[3]/49,X,der(Y)t(Y;1)(q12;q21),t(11;14)(q13;q32),+18,+20,+21[47]/49,X,idem,del(13q22),ace[1]/98,XX,der(Y)t(Y;1)×2,+18,+18,+20,+20,+21,+21[10]/46,XY[19].中期熒光原位雜交結果 證實der(Y)t(Y;1)的G顯帶結果 ,為1q部分三體與Y染色體長臂的不平衡易位.其異常的單剋隆免疫毬蛋白為IgD,定量6.24 g/L;免疫分型結果 為錶達CD38、CD138,不錶達ZAP70,攷慮為異常剋隆漿細胞的錶達.結論 Y染色體的結構異常在血液繫統腫瘤中非常罕見,本文報道1例髮生于多髮性骨髓瘤中的伴der(Y)t(Y;1)的覈型異常、實驗室及臨床特點.
목적 대1례반유불평형염색체역위der(Y)t(Y;1)적다발성골수류(multiple myeloma,MM)환자진행세포유전학、중기형광원위잡교、면역학급림상연구.방법 채용세포유전학G현대행중기염색체핵형분석;용1호염색체도말탐침、Y염색체이염색질구탐침진행중기형광원위잡교검측;면역분형검측CD38、CD138、ZAP70등적표체급면역전영검측면역구단백류형등.결과 세포유전학분석결과 발현환자구유고도복잡적이상극륭,기핵형위:92,XXYY[3]/49,X,der(Y)t(Y;1)(q12;q21),t(11;14)(q13;q32),+18,+20,+21[47]/49,X,idem,del(13q22),ace[1]/98,XX,der(Y)t(Y;1)×2,+18,+18,+20,+20,+21,+21[10]/46,XY[19].중기형광원위잡교결과 증실der(Y)t(Y;1)적G현대결과 ,위1q부분삼체여Y염색체장비적불평형역위.기이상적단극륭면역구단백위IgD,정량6.24 g/L;면역분형결과 위표체CD38、CD138,불표체ZAP70,고필위이상극륭장세포적표체.결론 Y염색체적결구이상재혈액계통종류중비상한견,본문보도1례발생우다발성골수류중적반der(Y)t(Y;1)적핵형이상、실험실급림상특점.
Objective To investigate the clinical significance of a rare chromosome abnormality der (Y)t(Y;1) in a patient with multiple myeloma (MM). Methods The chromosome spread was prepared after 24 h culture of bone marrow. G-banding technique was used to analyze the karyotype. Fluorescence in situ hybridization (FISH) was performed to ascertain the origin of abnormal chromosome detected by conventional karyotypic analysis. Flow cytometry was used to detect the expression of the CD38/CD138/ZAP70. Immunoelectrophore was applied to identify the type of immunoglobulin. Results A complex pattern of chromosome rearrangement was observed : 92, XXYY[3]/49, X, der (Y) t ( Y;1 ) ( q12;q21 ), t ( 11;14)(q13;q32),+18,+20,+21[47]/49,X, idem,del(13q22),ace[1]/98,XX,der(Y)t(Y;1) × 2, + 18,+18,+20,+20,+21, +21[10]/46,XY[19]. The result was confirmed by metaphase-FISH. The type of immunoglobulin was IgD with the level of 6.24g/L. The CD38/CD138 was positive but ZAP70 was negative. Conclusion Structural abnormality of chromosome Y is rare in blood malignancy. Most of them were described in myelodysplastic syndrome or myeloproliferative disorders. It is the first report of der(Y)t(Y;1) abnormality in multiple myeloma.
