Isabel Sierra1, Julyann Pérez-Mayoral1, Kathia Rosado2, Valerie Maldonado3, Kimberly Alicea-Zambrana4, José S Reyes5, Marla Torres5, Luis Tous5, Nicolas Lopéz-Acevedo5, Yaritza Diaz-Algorrí3, Victor Carlo-Chevere6, Segundo Rodriguez-Quilichini7, Marcia Cruz-Correa8,9,10,11. 1. Division of Cancer Biology, University of Puerto Rico Comprehensive Cancer Center, San Juan, Puerto Rico. 2. Hato Rey Pathology Laboratories, San Juan, Puerto Rico. 3. Department of Allied Health Sciences, San Juan Bautista School of Medicine, Caguas, Puerto Rico. 4. Department of Biology, University of Puerto Rico Rio Piedras Campus, San Juan, Puerto Rico. 5. Colorectal Cancer Surgery Clinic, San Juan, Puerto Rico. 6. Department of Medicine, University of Puerto Rico Medical Sciences Campus, PO BOX 365067, San Juan, 00936, Puerto Rico. 7. Department of Surgery, University of Puerto Rico Medical Sciences Campus, San Juan, PR, Puerto Rico. 8. Division of Cancer Biology, University of Puerto Rico Comprehensive Cancer Center, San Juan, Puerto Rico. marcia.cruz1@upr.edu. 9. Department of Medicine, University of Puerto Rico Medical Sciences Campus, PO BOX 365067, San Juan, 00936, Puerto Rico. marcia.cruz1@upr.edu. 10. Department of Biochemistry, University of Puerto Rico Medical Sciences Campus, San Juan, PR, Puerto Rico. marcia.cruz1@upr.edu. 11. Johns Hopkins School of Medicine, Baltimore, MD, USA. marcia.cruz1@upr.edu.
Abstract
OBJECTIVE: Colorectal cancer is the leading cause of cancer death in Puerto Rico and third among Hispanics in the USA. Up to 2-4% of colorectal cancer cases are a result of Lynch syndrome (LS), a hereditary cancer syndrome caused by a germline mutation in at least one of the DNA mismatch repair genes. The objective of this study was to determine the prevalence of LS in colorectal tumors during the first 15-months after the implementation of universal tumor-based screening for LS in Puerto Rico. METHODS: A total of 317 colorectal tumors were evaluated in a large private pathology laboratory from September 2014 to December 2015. Clinical characteristics were obtained from the pathology reports. Unadjusted and adjusted logistic regression models were used to estimate the magnitude of association (odds ratio [OR] with 95% confidence intervals [CI]) between absent MMR protein expression and patient characteristics. RESULTS: Most cases (93.4%) were analyzed by immunohistochemistry; 11.8% (35 of 296) had deficient mismatch repair protein expression. While 29 of the 317 cases were subjected to PCR-based microsatellite instability analysis of which 10.3% (3 of 317) had microsatellite instability. In total, 11.0% of the tumors were reported MMR deficient. These tumors were more likely from females and more likely localized in the proximal colon compared to those with proficient MMR expression. CONCLUSIONS: Our data is consistent with the results from other studies including US Hispanics, where approximately 10% of Hispanic individuals with colorectal cancer have microsatellite instability. Our results support universal tumor-based screening for LS among Hispanics in accordance with National Comprehensive Cancer Network guidelines.
OBJECTIVE: Colorectal cancer is the leading cause of cancer death in Puerto Rico and third among Hispanics in the USA. Up to 2-4% of colorectal cancer cases are a result of Lynch syndrome (LS), a hereditary cancer syndrome caused by a germline mutation in at least one of the DNA mismatch repair genes. The objective of this study was to determine the prevalence of LS in colorectal tumors during the first 15-months after the implementation of universal tumor-based screening for LS in Puerto Rico. METHODS: A total of 317 colorectal tumors were evaluated in a large private pathology laboratory from September 2014 to December 2015. Clinical characteristics were obtained from the pathology reports. Unadjusted and adjusted logistic regression models were used to estimate the magnitude of association (odds ratio [OR] with 95% confidence intervals [CI]) between absent MMR protein expression and patient characteristics. RESULTS: Most cases (93.4%) were analyzed by immunohistochemistry; 11.8% (35 of 296) had deficient mismatch repair protein expression. While 29 of the 317 cases were subjected to PCR-based microsatellite instability analysis of which 10.3% (3 of 317) had microsatellite instability. In total, 11.0% of the tumors were reported MMR deficient. These tumors were more likely from females and more likely localized in the proximal colon compared to those with proficient MMR expression. CONCLUSIONS: Our data is consistent with the results from other studies including US Hispanics, where approximately 10% of Hispanic individuals with colorectal cancer have microsatellite instability. Our results support universal tumor-based screening for LS among Hispanics in accordance with National Comprehensive Cancer Network guidelines.
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