Systematic Immunohistochemistry Screening for Lynch Syndrome in Early Age-of-Onset Colorectal Cancer Patients Undergoing Surgical Resection - 21/12/11
Correspondence address: José G Guillem, MD, MPH, Memorial Sloan-Kettering Cancer Center, 1275 York Ave, C-1077, New York, NY 10065Résumé |
Background |
Lynch syndrome (LS), defined by a deleterious (pathogenic) germline mutation in a mismatch repair (MMR) gene, is characterized by early age-of-onset colorectal cancer (CRC). Because clinical criteria for LS, such as the Amsterdam II Criteria, may miss cases, reflex tumor tissue testing of all CRC patients for LS has been proposed. Our study describes the impact of routine immunohistochemistry (IHC) analysis of tumor tissue for loss of MMR protein expression in early age-of-onset CRC patients undergoing resection.
Study Design |
A prospective institutional program was established to perform IHC analysis on all early age-of-onset (≤50 years) CRC patients undergoing resection. Patients with abnormal IHC analysis were referred to the Clinical Genetics Service for further evaluation. The study cohort excluded patients with other polyposis syndromes and inflammatory bowel disease.
Results |
IHC was performed on 198 patients from July 2006 to June 2010. The median age was 42.8 years (range 23.1 to 50.6 years). Abnormal IHC was reported in 38 (19.1%) patients, and 22 (57.8%) with abnormal IHC analysis had germline genetic testing. Seventeen (77.2%) had an alteration detected in an MMR gene: 10 were known to be deleterious mutations and 7 were variants of uncertain significance. Overall, LS was detected in 5.1% of patients. Only 2 of the 10 (20%) with a deleterious mutation actually met the Amsterdam II Criteria.
Conclusions |
Reflex IHC testing for LS on early age-of-onset CRC patients undergoing resection is feasible at the institutional level. This strategy identifies a substantial number of LS patients who would have been missed if genetic testing was based on the Amsterdam II Criteria alone.
Le texte complet de cet article est disponible en PDF.Abbreviations and Acronyms : CRC, IHC, LS, MSI, MMR, MSKCC, SIFT
Plan
| Disclosure Information: Nothing to disclose. |
|
| Supported in part by the Kathy DeRosa Foundation, the Grace Fippinger Foundation, the Edith Nathanson Fund, the Maria Frangella Foundation, and the Ferdinand Koch Fund. |
Vol 214 - N° 1
P. 61-67 - janvier 2012 Retour au numéro
Article précédent
- Effect of Program Type on the Training Experiences of 248 University, Community, and US Military-Based General Surgery Residencies
- Michael C. Sullivan, Gloria Sue, Emily Bucholz, Heather Yeo, Richard H. Bell, Sanziana A. Roman, Julie A. Sosa
- Hyperglycemia Is Associated with Increased Risk of Morbidity and Mortality after Colectomy for Cancer
- Rubie Sue Jackson, Richard L. Amdur, Jon C. White, Robyn A. Macsata
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?