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.
journal_name
Arch Iran Medjournal_title
Archives of Iranian medicineauthors
Goshayeshi L,Khooiee A,Ghaffarzadegan K,Rahmani Khorram M,Bishehsari F,Hoseini B,Akhavan Rezayat K,Esmaeilzadeh A,Mosannen Mozaffari H,Ghanayee O,Lari S,Bahari A,Allahyari A,Bari A,Ganji A,Goshayeshi L,Rajabzadeh F,Esmadoi
0172006/AIM.003subject
Has Abstractpub_date
2017-06-01 00:00:00pages
332-337issue
6eissn
1029-2977issn
1735-3947pii
003journal_volume
20pub_type
杂志文章,多中心研究abstract：BACKGROUND:Regulation of reproduction is now considered to be carried out by the kisspeptin and its receptor, GPR54 or Kiss1r. Mutations of either Kiss1 or Kiss1r in humans and mice result in profound hypogonadotropic hypogonadism. The present study was aimed to determine whether the levels of kisspeptin are associated...
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