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Feasibility of screening for Lynch syndrome among patients with colorectal cancer.
J Clin Oncol. 2008 Dec 10; 26(35):5783-8.JC

Abstract

PURPOSE

Identifying individuals with Lynch syndrome (LS) is highly beneficial. However, it is unclear whether microsatellite instability (MSI) or immunohistochemistry (IHC) should be used as the screening test and whether screening should target all patients with colorectal cancer (CRC) or those in high-risk subgroups.

PATIENTS AND METHODS

MSI testing and IHC for the four mismatch repair proteins was performed on 500 tumors from unselected patients with CRC. If either MSI or IHC was abnormal, complete mutation analysis for the mismatch repair genes was performed.

RESULTS

Among the 500 patients, 18 patients (3.6%) had LS. All 18 patients detected with LS (100%) had MSI-high tumors; 17 (94%) of 18 patients with LS were correctly predicted by IHC. Of the 18 probands, only eight patients (44%) were diagnosed at age younger than 50 years, and only 13 patients (72%) met the revised Bethesda guidelines. When these results were added to data on 1,066 previously studied patients, the entire study cohort (N = 1,566) showed an overall prevalence of 44 of 1,566 patients (2.8%; 95% CI, 2.1% to 3.8%) for LS. For each proband, on average, three additional family members carried MMR mutations.

CONCLUSION

One of every 35 patients with CRC has LS, and each has at least three relatives with LS; all of whom can benefit from increased cancer surveillance. For screening, IHC is almost equally sensitive as MSI, but IHC is more readily available and helps to direct gene testing. Limiting tumor analysis to patients who fulfill Bethesda criteria would fail to identify 28% (or one in four) cases of LS.

Authors+Show Affiliations

Department of MolecularVirology, Ohio State UniversityColumbus, OH, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Multicenter Study
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18809606

Citation

Hampel, Heather, et al. "Feasibility of Screening for Lynch Syndrome Among Patients With Colorectal Cancer." Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, vol. 26, no. 35, 2008, pp. 5783-8.
Hampel H, Frankel WL, Martin E, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol. 2008;26(35):5783-8.
Hampel, H., Frankel, W. L., Martin, E., Arnold, M., Khanduja, K., Kuebler, P., Clendenning, M., Sotamaa, K., Prior, T., Westman, J. A., Panescu, J., Fix, D., Lockman, J., LaJeunesse, J., Comeras, I., & de la Chapelle, A. (2008). Feasibility of screening for Lynch syndrome among patients with colorectal cancer. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 26(35), 5783-8. https://doi.org/10.1200/JCO.2008.17.5950
Hampel H, et al. Feasibility of Screening for Lynch Syndrome Among Patients With Colorectal Cancer. J Clin Oncol. 2008 Dec 10;26(35):5783-8. PubMed PMID: 18809606.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Feasibility of screening for Lynch syndrome among patients with colorectal cancer. AU - Hampel,Heather, AU - Frankel,Wendy L, AU - Martin,Edward, AU - Arnold,Mark, AU - Khanduja,Karamjit, AU - Kuebler,Philip, AU - Clendenning,Mark, AU - Sotamaa,Kaisa, AU - Prior,Thomas, AU - Westman,Judith A, AU - Panescu,Jenny, AU - Fix,Dan, AU - Lockman,Janet, AU - LaJeunesse,Jennifer, AU - Comeras,Ilene, AU - de la Chapelle,Albert, Y1 - 2008/09/22/ PY - 2008/9/24/pubmed PY - 2009/1/7/medline PY - 2008/9/24/entrez SP - 5783 EP - 8 JF - Journal of clinical oncology : official journal of the American Society of Clinical Oncology JO - J Clin Oncol VL - 26 IS - 35 N2 - PURPOSE: Identifying individuals with Lynch syndrome (LS) is highly beneficial. However, it is unclear whether microsatellite instability (MSI) or immunohistochemistry (IHC) should be used as the screening test and whether screening should target all patients with colorectal cancer (CRC) or those in high-risk subgroups. PATIENTS AND METHODS: MSI testing and IHC for the four mismatch repair proteins was performed on 500 tumors from unselected patients with CRC. If either MSI or IHC was abnormal, complete mutation analysis for the mismatch repair genes was performed. RESULTS: Among the 500 patients, 18 patients (3.6%) had LS. All 18 patients detected with LS (100%) had MSI-high tumors; 17 (94%) of 18 patients with LS were correctly predicted by IHC. Of the 18 probands, only eight patients (44%) were diagnosed at age younger than 50 years, and only 13 patients (72%) met the revised Bethesda guidelines. When these results were added to data on 1,066 previously studied patients, the entire study cohort (N = 1,566) showed an overall prevalence of 44 of 1,566 patients (2.8%; 95% CI, 2.1% to 3.8%) for LS. For each proband, on average, three additional family members carried MMR mutations. CONCLUSION: One of every 35 patients with CRC has LS, and each has at least three relatives with LS; all of whom can benefit from increased cancer surveillance. For screening, IHC is almost equally sensitive as MSI, but IHC is more readily available and helps to direct gene testing. Limiting tumor analysis to patients who fulfill Bethesda criteria would fail to identify 28% (or one in four) cases of LS. SN - 1527-7755 UR - https://www.unboundmedicine.com/medline/citation/18809606/Feasibility_of_screening_for_Lynch_syndrome_among_patients_with_colorectal_cancer_ L2 - https://ascopubs.org/doi/10.1200/JCO.2008.17.5950?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -