Evaluation of tumor microsatellite instability using five quasi monomorphic mononucleotide repeats and pentaplex PCR

被引:494
作者
Suraweera, N
Duval, A
Reperant, M
Vaury, C
Furlan, D
Leroy, K
Seruca, R
Iacopetta, B
Hamelin, R
机构
[1] INSERM, U434, CEPH, F-75010 Paris, France
[2] Univ Insubria, Dept Pathol, Varese, Italy
[3] Hop Henri Mondor, Dept Pathol, F-94010 Creteil, France
[4] Univ Porto, Inst Mol Pathol & Immunol, P-4100 Oporto, Portugal
[5] Univ Western Australia, Dept Surg, Nedlands, WA 6009, Australia
关键词
D O I
10.1053/gast.2002.37070
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Background & Aims: The microsatellite instability (MSI) phenotype is a characteristic of the hereditary nonpolyposis colorectal cancer syndrome as well as approximately 15% of sporadic colon and gastric tumors. It is a valuable diagnostic marker for the identification of hereditary nonpolyposis colorectal cancer cases and may be a molecular predictive marker for the identification of colon cancer patients who benefit from chemotherapy. To evaluate MSI, a reference panel was proposed at an international consensus meeting, comprised of 2 mononucleotide (BAT-25, BAT-26) and 3 dinucleotide repeats. Analysis of BAT-26 is sufficient for detecting the MSI phenotype in most, but not all, cases. Additional results with dinucleotide markers can sometimes lead to incorrect classification of MSI tumors. Methods: We describe here a single fluorescent multiplex system comprising 5 quasimonomorphic mononucleotide repeats for the detection of MSI tumors. Results: None of 184 germline DNA samples, including 56 from African subjects, was found to contain allelic size variations in more than 2 of these markers. In contrast, all MSI tumors showed allelic size variations in 3 or more of the microsatellites. Using this assay, we confirmed (or reclassified in 6 cases) the MSI status of 124 colon and 50 gastric primary tumors and 16 colon cell lines. Conclusions: We propose that using a pentaplex polymerase chain reaction system allows accurate evaluation of tumor MSI status of DNA with 100% sensitivity and specificity without the need to match normal DNA. This assay is simpler to use than those involving dinucleotides and is more specific than using BAT-26 alone.
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页码:1804 / 1811
页数:8
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