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Screening for Lynch Syndrome in Cases with Colorectal Carcinoma from Mashhad

Ladan Goshayeshi1,2, Alireza Khooiee3, Kamran Ghaffarzadegan4, Mahla Rahmani Khorram5, Faraz Bishehsari6, Benyamin  Hoseini7, Kambiz Akhavan Rezayat•1,2, Abbas Esmaeilzadeh1,2, Hooman Mosannen Mozaffari1,2, Omid Ghanayee1,2, S. Lari8, Ali Bahari1,2, Abolghasem Allahyari9, Alireza Bari9, Azita Ganji1,2, Lena Goshayeshi10, Farnood Rajabzadeh11, Jaleh Esmaeili12


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 Authors’ affiliations: 1Department of Gastroenterology and Hepatology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. 2Gastroenterology and hepatology research center, Mashhad University of Medical Sciences, Mashhad, Iran. 3Department of Pathology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. 4Pathology Department, Education and Research Department, Razavi hospital, Mashhad, Iran. 5Medical Student, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. 6Division of Gastroenterology, Department of Internal Medicine, Rush University Medical Center, Chicago, Illinois, USA. 7Student Research Committee, Department of Medical Informatics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. 8MSC of biochemistry, Mashhad pathobiology lab, Mashhad, Iran. 9Hematology and Oncology Department, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. 10PHD Student, Department of Biotechnology, Ferdowsi University of Mashhad, Mashhad, Iran. 11Radiology Department, Mashhad Branch, Islamic Azad University, Mashhad, Iran. 12Anatomical and Clinical Pathologist, Moayyed Medical Laboratory, Mashhad, Iran.

•Corresponding author and reprints: Kambiz Akhavan Rezayat, Division of Gastroenterology, Department of Internal Medicine, Mashhad University Medical sciences, Mashhad, Iran.  Tel: +985138598818, Fax: +98513932481, E-mail: akhavanrk@mums.ac.ir

Accepted for publication: 12 April 2017

 

 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.


Archives of Iranian Medicine,Vol. 20, No. 06, June 2017, -
Keywords: Cancer screening, colorectal carcinoma, immunohistochemistry, Lynch syndrome, mismatch repair
 
 
ISSN:1029-2977
  
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