CAJ | 학술논문

目的探讨多重荧光原位杂交(multiplex fluorescence in situ hybridization,M-FISH)技术在多发性骨髓瘤(multiple myeloma,MM)复杂核型异常(complex chromosomal aberrations,CCAs)检测中的价值.方法对10例常规细胞遗传学(conventional cytogenetics,CC)方法检测具有复杂核型的MM患者应用M-FISH技术确定复杂染色体的重排及标记染色体的组成.结果 M-FISH证实了CC显示的29种结构异常,并进一步明确了1p-、6q-、9q-、9q+、+8q+×2、14q+、?14q、der(4)、der(22)、der(1)t(1;?)(q10;?)、der(3)、del(7)的具体来源;同时也发现CC分析没有发现或不能识别的21种异常,其中t(2;15)(q33;q22)、t(6;7)(q23;q34)、t(8;11)(q24;q23)、t(1;14)(q10;q32)和t(X;1)(q26;q25)是新发现的核型异常.这10例随访的MM患者病例资料中9例已死亡,中位生存期仅为23个月,较公认的MM患者的平均生存期34个月明显缩短.结论对伴有CCAs的MM患者,M-FISH技术可以明确CC分析中复杂染色体异常,并发现和纠正CC分析中漏检及误检的异常,为MM的染色体异常研究提供了一种重要的方法,已经成为精确染色体核型分析所不可缺少的手段之一.
목적 탐토다중형광원위잡교(multiplex fluorescence in situ hybridization,M-FISH)기술재다발성골수류(multiple myeloma,MM)복잡핵형이상(complex chromosomal aberrations,CCAs)검측중적개치.방법 대10례상규세포유전학(conventional cytogenetics,CC)방법검측구유복잡핵형적MM환자응용M-FISH기술학정복잡염색체적중배급표기염색체적조성.결과 M-FISH증실료CC현시적29충결구이상,병진일보명학료1p-、6q-、9q-、9q+、+8q+×2、14q+、?14q、der(4)、der(22)、der(1)t(1;?)(q10;?)、der(3)、del(7)적구체래원;동시야발현CC분석몰유발현혹불능식별적21충이상,기중t(2;15)(q33;q22)、t(6;7)(q23;q34)、t(8;11)(q24;q23)、t(1;14)(q10;q32)화t(X;1)(q26;q25)시신발현적핵형이상.저10례수방적MM환자병례자료중9례이사망,중위생존기부위23개월,교공인적MM환자적평균생존기34개월명현축단.결론 대반유CCAs적MM환자,M-FISH기술가이명학CC분석중복잡염색체이상,병발현화규정CC분석중루검급오검적이상,위MM적염색체이상연구제공료일충중요적방법,이경성위정학염색체핵형분석소불가결소적수단지일.
Objective To explore the value of multiplex fluorescence in situ hybridization (M-FISH)in the detection of the complex chromosomal aberrations (CCAs) in multiple myeloma (MM). Methods M-FISH was used in 10 MM patients with CCAs detected by conventional cytogenetics (CC) using Rbanding to refine the rearrangement of CCAs and identify the characteristics of marker chromosome. Results M-FISH confirmed the 29 structural aberrations shown by CC analysis, and also confirmed the specific source of 21 types of chromosomal aberration, which were not detected by CC analysis. Among them, t(2;15)(q33;q22), t(6;7)(q23;q34), t(8;11) (q24;q23), t(1;14)(q10;q32) and t(X;1)(q26;q25) were new chromosomal aberrations. The median survival time of 9 MM patients with CCAs was 23 months and evidently shorter than that of MM patients without CCAs, with the mean survival time being 34 months.Conclusion M-FISH could refine CCAs in MM patients, find or correct the missed or misidentified abnormalities analyzed by CC. It has provided one of the essential methods for the research of chromosomal aberrations in MM.