CAJ | 학술논문

目的探讨多发性骨髓瘤（ MM）的细胞遗传学特征并且分析其与临床治疗疗效、预后的相关性。方法收集我院38例MM患者的骨髓标本进行24 h短期培养，利用R显带技术进行常规核型分析，同时行原位荧光杂交技术（ FISH）检测，分析不同治疗方案、不同类型的染色体异常对无进展生存（ PFS）、总生存（OS）时间的影响，同时行MM相关预后因素分析。结果 MM染色体异常总检出率为34.2％（13/38），其中复杂异常占53.8％（7/13）。常规核型异常检出率23.7％（9/38），FISH异常检出率21.1％（8/38），其中del（13q14）、RB1缺失、amp（1q21）、del（17p13）、IgH重排分别为21.1％、21.1％、10.5％、2.6％、13.2％。异常核型较正常核型患者中位PFS时间缩短（ P＝0.045），复杂异常较非复杂异常患者中位PFS、OS时间均缩短（ P值分别为0.012、0.041），说明异常核型尤其复杂异常提示预后不良。其中1号染色体异常提示预后差；FISH及常规核型均检出13号缺失者较单纯FISH阴性者生存期明显缩短，提示常规核型中13号缺失可能预后不良；比较染色体异常组不同治疗方案的疗效发现，硼替佐米、自体干细胞移植（ ASCT）治疗较传统化疗，可延长PFS、OS时间，但差异无统计学意义（ P＞0.05）。结论常规核型分析结合FISH检测揭示MM的细胞遗传学特点多为染色体复杂异常；1号染色体异常和13号缺失，都提示预后不良，染色体异常患者较正常患者接受硼替佐米、ASCT治疗生存获益更大。
목적탐토다발성골수류（ MM）적세포유전학특정병차분석기여림상치료료효、예후적상관성。방법수집아원38례MM환자적골수표본진행24 h단기배양，이용R현대기술진행상규핵형분석，동시행원위형광잡교기술（ FISH）검측，분석불동치료방안、불동류형적염색체이상대무진전생존（ PFS）、총생존（OS）시간적영향，동시행MM상관예후인소분석。결과 MM염색체이상총검출솔위34.2％（13/38），기중복잡이상점53.8％（7/13）。상규핵형이상검출솔23.7％（9/38），FISH이상검출솔21.1％（8/38），기중del（13q14）、RB1결실、amp（1q21）、del（17p13）、IgH중배분별위21.1％、21.1％、10.5％、2.6％、13.2％。이상핵형교정상핵형환자중위PFS시간축단（ P＝0.045），복잡이상교비복잡이상환자중위PFS、OS시간균축단（ P치분별위0.012、0.041），설명이상핵형우기복잡이상제시예후불량。기중1호염색체이상제시예후차；FISH급상규핵형균검출13호결실자교단순FISH음성자생존기명현축단，제시상규핵형중13호결실가능예후불량；비교염색체이상조불동치료방안적료효발현，붕체좌미、자체간세포이식（ ASCT）치료교전통화료，가연장PFS、OS시간，단차이무통계학의의（ P＞0.05）。결론상규핵형분석결합FISH검측게시MM적세포유전학특점다위염색체복잡이상；1호염색체이상화13호결실，도제시예후불량，염색체이상환자교정상환자접수붕체좌미、ASCT치료생존획익경대。
Objective To explore the cytogenetic characteristics of multiple myeloma and its correlation with clinical treatment and prognosis .Methods Bone marrow of 38 cases of MM were collected and chromosome specimens of bone marrow cells were prepared by 24-hour culture .R-banding technique combined with interphase fluorescence in situ hybridization ( i-FISH ) was used for karyotype analysis .The impact of different treatments and chromosome aberrations on progression-free survival ( PFS) and overall survival ( OS) time as well as related prognosis factors of MM were analyzed .Results The detected total chromosome aberration rate was 34.2%( 13/38 ) , with chromosome complex aberration 53.8%(7/13).The detection rate of R-banding technique was 23.7%(9/38)and 21.1%(8/38)by FISH including del(13q14)(21.1%),deletion of RB1(21.1%),amp(1q21)(10.5%),del (17p13)(2.6%),IgH gene rearrangement (13.2%).Patients of abnormal group had much shorter PFS than the normal group(16 versus more than 60 months;P=0.045).Also,the median PFS and OS of complex abnormal group (15 and 24 months)was much more shorter than the non-complex abnormal group(P=0.012,0.041).This implied that abnormal karyotype especially complex abnormal can be considered an adverse prognostic factor and chromosome 1 was involved.In comparison with patients without 13q14 deletion by FISH,patients with 13 deletion by FISH and conventional karyotype analysis had significantly shorter PFS (16 versus 32 months;P>0.05)and OS(25 versus 50 months;P>0.05 ) .13 deletion by conventional karyotype analysis was related to poor prognosis .Boretizomib or autologous hematopoietic stem cell transplantation prolonged the PFS and OS of the chromosome aberration group compared with traditional chemotherapy ,but there were no significant statistical differences between the two groups ( P>0.05 ) .Conclusions It is concluded that chromosome complex aberration is the mainly cytogenetic characteristics of multiple myeloma.The patients with 13q deletion or chromosome 1 abnormality have poor prognosis .The survival of patients with chromosome abnormalities treated by boretizomib and ASCT benefits more .