Defective Mismatch-Repair Colorectal Cancer

Autor: F. Ignacio Aranda, Artemio Payá, Gloria Peiró, Miguel Pérez-Mateo, Cristina Alenda, Rodrigo Jover, María José Poveda
Rok vydání: 2004
Předmět:
Zdroj: American Journal of Clinical Pathology. 122:389-394
ISSN: 1943-7722
0002-9173
DOI: 10.1309/v9pgk2y260vfvulr
Popis: The purpose of our study was to determine the usefulness of immunohistochemical analysis for the diagnosis of mismatch-repair ( MMR ) gene defective colorectal tumors and to describe their prevalence and clinicopathologic characteristics. We studied 172 cases. DNA was extracted from formalin-fixed, paraffin-embedded surgical samples, and microsatellite analysis was performed by polymerase chain reaction with BAT-26. The results were correlated with immunohisto-chemical analysis for hMLH1 and hMSH2. Microsatellite instability (MSI) was detected in 13 (7.6%) tumors, and all showed loss of protein expression of hMLH1 (11/13) or hMSH2 (2/13) ( P < .000). Patients with MMR -defective tumors more frequently had poorly differentiated tumors (5/13 [38%] vs 18/159 [11.3%]; P = .02) located in the ascending colon (8/13 [62%] vs 30/159 [18.9%]; P < .0001) and a personal history of other neoplasms (4/13 [31%] vs 18/159 [11.3%]; P = .05). There were no differences in age, family history of cancer, or TNM stage. Immunohistochemical analysis seems to be a reliable method to detect most colorectal cancers with defective MMR genes.
Databáze: OpenAIRE