论文部分内容阅读
目的探讨荧光定量PCR(FQ-PCR)与免疫磁珠分选联合荧光原位杂交(MACS-FISH)在检测多发性骨髓瘤(MM)患者骨髓细胞Ig H基因重排的应用价值。方法收集中山大学附属第一医院2014年1-9月初治或治疗后MM患者骨髓标本,分别以荧光定量PCR和MACS-FISH两种方法检测Ig H基因重排情况。结果利用Ig H基因通用引物荧光定量PCR检测23例标本,其中阳性4例,阳性率为17.4%;MACS-FISH法利用Ig H基因断裂点分离探针检测23例标本,其中阳性10例,阳性率为43.5%。MACS-FISH检测的阳性率高于FQ-PCR,二者差异有统计学意义(P=0.04)。对应用MACS-FISH法检测Ig H基因重排阳性的10例标本进一步检测3种融合基因:IGH/CCND1、IGH/FGFR3、IGH/MAF,其中检出IGH/CCND1融合基因阳性3例,IGH/FGFR3融合基因阳性5例,未检出IGH/MAF融合基因。结论在检测多发性骨髓瘤Ig H基因重排方面,MACS-FISH检测阳性率高于荧光定量PCR,对Ig H重排阳性病例还可以进一步检测多种涉及Ig H重排的融合基因,对多发性骨髓瘤患者的预后判断具有重要的临床意义。
Objective To investigate the value of fluorescence quantitative PCR (FQ-PCR) and immunomagnetic bead sorting combined with fluorescence in situ hybridization (MACS-FISH) in the detection of Ig H gene rearrangements in bone marrow cells from patients with multiple myeloma (MM). Methods Bone marrow samples from patients with MM who were treated or treated at the First Affiliated Hospital of Sun Yat-sen University from January to September in 2014 were collected. The Ig H gene rearrangements were detected by fluorescence quantitative PCR and MACS-FISH respectively. Results 23 samples were detected by real-time quantitative PCR with Ig H gene, of which 4 were positive, with a positive rate of 17.4%. MACS-FISH detected 23 cases with IgH gene breakpoint probe, of which 10 were positive The rate is 43.5%. The positive rate of MACS-FISH was higher than FQ-PCR, the difference was statistically significant (P = 0.04). The three fusion genes IGH / CCND1, IGH / FGFR3 and IGH / MAF were further detected by MACS-FISH in 10 cases with IgH gene rearrangement positive. Among them IGH / CCND1 fusion gene positive were detected in 3 cases and IGH / FGFR3 fusion gene was positive in 5 cases, IGH / MAF fusion gene was not detected. Conclusion The positive rate of MACS-FISH in detection of IgH gene rearrangements in multiple myeloma is higher than that of real-time quantitative PCR. Multiple IgH rearrangement fusion genes can be further detected in IgH rearrangement positive cases, The prognosis of patients with myeloma has important clinical significance.