Author/Authors :
Goshayeshi, Ladan Department of Gastroenterology and Hepatology - Mashhad University of Medical Sciences , Khooiee, Alireza Department of Pathology - Mashhad University of Medical Sciences , Ghaffarzadegan, Kamran Pathology Department - Education and Research Department - Razavi hospital , Rahmani Khorram, Mahla Medical Student - Faculty of Medicine - Mashhad University of Medical Sciences , Bishehsari, Faraz Department of Internal Medicine - Rush University Medical Center - USA , Hoseini, Benyamin Department of Medical Informatics - Mashhad University of Medical Sciences , Akhavan Rezayat, Kambiz Department of Gastroenterology and Hepatology - Mashhad University of Medical Sciences , Esmaeilzadeh, Abbas Department of Gastroenterology and Hepatology - Mashhad University of Medical Sciences , Mosannen Mozaffari, Hooman Department of Gastroenterology and Hepatology - Mashhad University of Medical Sciences , Ghanayee, Omid Department of Gastroenterology and Hepatology - Mashhad University of Medical Sciences , Bahari, Ali MSC of Biochemistry - Mashhad Pathobiology Lab , Allahyari, Abolghasem Department of Gastroenterology and Hepatology - Mashhad University of Medical Sciences , Bari, Alireza Hematology and Oncology Department - Mashhad University of Medical Sciences , Ganji, Azita Hematology and Oncology Department - Mashhad University of Medical Sciences , Goshayeshi, Lena Department of Gastroenterology and Hepatology - Mashhad University of Medical Sciences
Abstract :
Introduction
Lynch Syndrome (LS) is a genetically inherited autosomal disorder that increases the risk of many types of cancer, especially colorectal cancer (CRC). Identifying these subjects improves morbidity and mortality. We aimed to assess the prevalence of LS with both clinical criteria and universal strategy in Mashhad, Iran.
Methods
In this retrospective study, we screened 322 patients with CRC between 2013 and 2016 in Mashhad, Iran. CRCs were screened based on Amsterdam II criteria, revised Bethesda guideline, and universal strategy. Information regarding the clinical criteria was obtained by interviewing the patients or, their families. Tumors were screened by pathologists with IHC staining of four Mismatch repair (MMR) proteins (MLH1, MSH2, MSH6, and PMS2). Tumors with absent IHC staining of MLH1 were tested for BRAF mutations to exclude sporadic CRCs.
Results
Of 322 CRCs, 33 cases were found to be deficient-MMR; 22 of these had concurrent loss of MLH1 and PMS2, followed by concurrent loss of MSH2 and MSH6 in 8 CRCs. Twenty-two cases with a loss of MLH1 underwent testing for the BRAF mutation, 4 of which were recognized as a positive BRAF mutation. Finally, 29 CRCs were found as being positive screen for LS. Poor sensitivity (21.74%) was found for the Amsterdam II criteria and a poor positive predictive value (15.39%) for the revised Bethesda.
Conclusion
Application of clinical criteria may not be effective enough to identify LS and at least 2-antibody panel (PMS2, MSH6) should be conducted for newly diagnosed CRCs.
Keywords:
Keywords :
Cancer screening , colorectal carcinoma , immunohistochemistry , Lynch syndrome , mismatch repair
