Comparison of the microsatellite instability analysis system and the Bethesda panel for the determination of microsatellite instability in colorectal cancers
Comparison of the microsatellite instability analysis system and the Bethesda panel for the determination of microsatellite instability in colorectal cancers
复制标题
DOI：
10.2353/jmoldx.2006.050092
复制
发表时间：
2006-07-01
影响因子：
4.1
通讯作者：
Eshleman, James R.
中科院分区：
文献类型：
--
作者：
Murphy, Kathleen M.;Zhang, Shengle;Eshleman, James R.
结直肠癌微卫星不稳定性（MSI）分析在临床上可用于识别由错配修复基因生殖系突变引起的遗传性非息肉病性结直肠癌（HNPCC）患者。MSI状态也可以预测癌症对某些化疗的反应/耐药性。我们评估了MSI分析系统（Promega Corp.; 5个单核苷酸重复和2个五核苷酸重复），并将结果与Bethesda小组进行比较，Bethesda小组询问1997年国家癌症研究所赞助的MSI研讨会推荐的5个微卫星位点（3个二核苷酸重复和2个单核苷酸重复）。通过两种测定法分析了34例结直肠癌。两种检测方法之间的总体一致性为85%（29/34）。对于所有MSI高（11/11）和微卫星稳定（MSS; 18/18）病例，两种检测方法完全一致。在11例MSI高病例中，MSI分析系统中的所有5个单核苷酸多态性基因座均表现出等位基因移位（100%灵敏度），并且每次移位导致产物的大小小于种系等位基因。所有（5/5）的情况下，解释为MSI低Bethesda分析被解释为MSS的MSI分析系统我们的结果表明，MSI分析系统一般是上级，并可能有助于解决案件的MSI低到MSI高或MSS。
Microsatellite instability (MSI) analysis of colorectal cancers is clinically useful to identify patients with hereditary nonpolyposis colorectal cancer (HNPCC) caused by germline mutations of mismatch repair genes. MSI status may also predict cancer response/resistance to certain chemotherapies. We evaluated the MSI Analysis System (Promega Corp.; five mononucleotide and two pentanucleotide repeats) and compared the results to the Bethesda panel, which interrogates five microsatellite loci recommended by the 1997 National Cancer Institute-sponsored MSI workshop (three dinucleotide and two mononucleotide repeats). Thirty-four colorectal cancers were analyzed by both assays. The overall concordance between the two assays was 85% (29 of 34). There was complete concordance between the two assays for all of the MSI-high (11 of 11) and microsatellite stable (MSS; 18 of 18) cases. In the 11 MSI-high cases, all 5 of the mononucleotide loci in the MSI Analysis System demonstrated shifted alleles (100% sensitivity), and each shift resulted in products that were smaller in size than the germline alleles. All (5 of 5) of the cases interpreted as MSI-low by the Bethesda assay were interpreted as MSS by the MSI Analysis System Our results suggest that the MSI Analysis System is generally superior and may help resolve cases of MSI-low into either MSI-high or MSS.