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Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR.
Gastroenterology. 2002 Dec; 123(6):1804-11.G

Abstract

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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Publisher Full Text

Authors+Show Affiliations

Suraweera N
INSERM U434, Centre d'Etudes du Polymorphisme Humain, Paris, France.
Duval A
No affiliation info available
Reperant M
No affiliation info available
Vaury C
No affiliation info available
Furlan D
No affiliation info available
Leroy K
No affiliation info available
Seruca R
No affiliation info available
Iacopetta B
No affiliation info available
Hamelin R
No affiliation info available

MeSH

AfricaAfrican Continental Ancestry GroupCell LineDNA, NeoplasmEndometrial NeoplasmsEuropean Continental Ancestry GroupFemaleFluorescenceGastrointestinal NeoplasmsHumansMicrosatellite RepeatsParisPolymerase Chain Reaction

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12454837

Citation

Suraweera, Nirosha, et al. "Evaluation of Tumor Microsatellite Instability Using Five Quasimonomorphic Mononucleotide Repeats and Pentaplex PCR." Gastroenterology, vol. 123, no. 6, 2002, pp. 1804-11.
Suraweera N, Duval A, Reperant M, et al. Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology. 2002;123(6):1804-11.
Suraweera, N., Duval, A., Reperant, M., Vaury, C., Furlan, D., Leroy, K., Seruca, R., Iacopetta, B., & Hamelin, R. (2002). Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology, 123(6), 1804-11.
Suraweera N, et al. Evaluation of Tumor Microsatellite Instability Using Five Quasimonomorphic Mononucleotide Repeats and Pentaplex PCR. Gastroenterology. 2002;123(6):1804-11. PubMed PMID: 12454837.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. AU - Suraweera,Nirosha, AU - Duval,Alex, AU - Reperant,Maryline, AU - Vaury,Christelle, AU - Furlan,Daniela, AU - Leroy,Karen, AU - Seruca,Raquel, AU - Iacopetta,Barry, AU - Hamelin,Richard, PY - 2002/11/28/pubmed PY - 2002/12/28/medline PY - 2002/11/28/entrez SP - 1804 EP - 11 JF - Gastroenterology JO - Gastroenterology VL - 123 IS - 6 N2 - 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. SN - 0016-5085 UR - https://www.unboundmedicine.com/medline/citation/12454837/Evaluation_of_tumor_microsatellite_instability_using_five_quasimonomorphic_mononucleotide_repeats_and_pentaplex_PCR_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0016508502004523 DB - PRIME DP - Unbound Medicine ER -