A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer

C. Richard Boland, Stephen N Thibodeau, Stanley R. Hamilton, David Sidransky, James R. Eshleman, Randall W. Burt, Stephen J. Meltzer, Miguel A. Rodriguez-Bigas, Riccardo Fodde, G. Nadia Ranzani, Sudhir Srivastava

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Abstract

In December 1997, the National Cancer Institute sponsored 'The International Workshop on Microsatellite Instability and RER Phenotypes in Cancer Detection and Familial Predisposition,' to review and unify the field. The following recommendations were endorsed at the workshop. (a) The form of genomic instability associated with defective DNA mismatch repair in tumors is to be called microsatellite instability (MSI). (b) A panel of five microsatellites has been validated and is recommended as a reference panel for future research in the field. Tumors may be characterized on the basis of: high-frequency MSI (MSI-H), if two or more of the five markers show instability (i.e., have insertion/deletion mutations), and low-frequency MSI (MSI-L), if only one of the five markers shows instability. The distinction between microsatellite stable (MSS) and low frequency MSI (MSI-L) can only be accomplished if a greater number of markers is utilized. (c) A unique clinical and pathological phenotype is identified for the MSI-H tumors, which comprise ~15% of colorectal cancers, whereas MSI-L and MSS tumors appear to be phenotypically similar. MSI-H colorectal tumors are found predominantly in the proximal colon, have unique histopathological features, and are associated with a less aggressive clinical course than are stage-matched MSI- L or MSS tumors. Preclinical models suggest the possibility that these tUmorS may be resistant to the cytotoxicity induced by certain chemotherapeutic agents. The implications for MSI-L are not yet clear. (d) MSI can be measured in fresh or fixed tumor specimens equally well; microdissection of pathological specimens is recommended to enrich for neoplastic tissue; and normal tissue is required to document the presence of MSI. (e) The 'Bethesda guidelines,' which were developed in 1996 to assist in the selection of tumors for microsatellite analysis, are endorsed. (f) The spectrum of microsatellite alterations in noncolonic tumors was reviewed, and it was concluded that the above recommendations apply only to colorectal neoplasms. (g) A research agenda was recommended.

Original languageEnglish (US)
Pages (from-to)5248-5257
Number of pages10
JournalCancer Research
Volume58
Issue number22
StatePublished - Nov 15 1998

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Microsatellite Instability
National Cancer Institute (U.S.)
Colorectal Neoplasms
Education
Neoplasms
Microsatellite Repeats
INDEL Mutation
Phenotype
Microdissection
DNA Mismatch Repair
Genomic Instability
Mutation Rate

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

Cite this

A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition : Development of international criteria for the determination of microsatellite instability in colorectal cancer. / Boland, C. Richard; Thibodeau, Stephen N; Hamilton, Stanley R.; Sidransky, David; Eshleman, James R.; Burt, Randall W.; Meltzer, Stephen J.; Rodriguez-Bigas, Miguel A.; Fodde, Riccardo; Ranzani, G. Nadia; Srivastava, Sudhir.

In: Cancer Research, Vol. 58, No. 22, 15.11.1998, p. 5248-5257.

Research output: Contribution to journalArticle

Boland, CR, Thibodeau, SN, Hamilton, SR, Sidransky, D, Eshleman, JR, Burt, RW, Meltzer, SJ, Rodriguez-Bigas, MA, Fodde, R, Ranzani, GN & Srivastava, S 1998, 'A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer', Cancer Research, vol. 58, no. 22, pp. 5248-5257.
Boland, C. Richard ; Thibodeau, Stephen N ; Hamilton, Stanley R. ; Sidransky, David ; Eshleman, James R. ; Burt, Randall W. ; Meltzer, Stephen J. ; Rodriguez-Bigas, Miguel A. ; Fodde, Riccardo ; Ranzani, G. Nadia ; Srivastava, Sudhir. / A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition : Development of international criteria for the determination of microsatellite instability in colorectal cancer. In: Cancer Research. 1998 ; Vol. 58, No. 22. pp. 5248-5257.
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abstract = "In December 1997, the National Cancer Institute sponsored 'The International Workshop on Microsatellite Instability and RER Phenotypes in Cancer Detection and Familial Predisposition,' to review and unify the field. The following recommendations were endorsed at the workshop. (a) The form of genomic instability associated with defective DNA mismatch repair in tumors is to be called microsatellite instability (MSI). (b) A panel of five microsatellites has been validated and is recommended as a reference panel for future research in the field. Tumors may be characterized on the basis of: high-frequency MSI (MSI-H), if two or more of the five markers show instability (i.e., have insertion/deletion mutations), and low-frequency MSI (MSI-L), if only one of the five markers shows instability. The distinction between microsatellite stable (MSS) and low frequency MSI (MSI-L) can only be accomplished if a greater number of markers is utilized. (c) A unique clinical and pathological phenotype is identified for the MSI-H tumors, which comprise ~15{\%} of colorectal cancers, whereas MSI-L and MSS tumors appear to be phenotypically similar. MSI-H colorectal tumors are found predominantly in the proximal colon, have unique histopathological features, and are associated with a less aggressive clinical course than are stage-matched MSI- L or MSS tumors. Preclinical models suggest the possibility that these tUmorS may be resistant to the cytotoxicity induced by certain chemotherapeutic agents. The implications for MSI-L are not yet clear. (d) MSI can be measured in fresh or fixed tumor specimens equally well; microdissection of pathological specimens is recommended to enrich for neoplastic tissue; and normal tissue is required to document the presence of MSI. (e) The 'Bethesda guidelines,' which were developed in 1996 to assist in the selection of tumors for microsatellite analysis, are endorsed. (f) The spectrum of microsatellite alterations in noncolonic tumors was reviewed, and it was concluded that the above recommendations apply only to colorectal neoplasms. (g) A research agenda was recommended.",
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AU - Hamilton, Stanley R.

AU - Sidransky, David

AU - Eshleman, James R.

AU - Burt, Randall W.

AU - Meltzer, Stephen J.

AU - Rodriguez-Bigas, Miguel A.

AU - Fodde, Riccardo

AU - Ranzani, G. Nadia

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