Prevalence and clinicopathological characteristics of mismatch repair-deficient colorectal carcinoma in early onset cases as compared with late-onset cases: a retrospective cross-sectional study in Northeastern Iran.

Autor:	Goshayeshi L; Gastroentrology and Hepatology Department, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Oncology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Ghaffarzadegan K; Pathology Department, Education and Research Department, Razavi Hospital, Mashhad, Iran., Khooei A; Department of Pathology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Esmaeilzadeh A; Gastroentrology and Hepatology Department, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Gastroenterology and Hepatology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Rahmani Khorram M; Medical Student, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Mosannen Mozaffari H; Gastroentrology and Hepatology Department, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Gastroenterology and Hepatology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Kiani B; Department of Medical Informatics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Hoseini B; Department of Health Information Technology, Neyshabur University of Medical Sciences, Neyshabur, Iran.
Jazyk:	angličtina
Zdroj:	BMJ open [BMJ Open] 2018 Aug 30; Vol. 8 (8), pp. e023102. Date of Electronic Publication: 2018 Aug 30.
DOI:	10.1136/bmjopen-2018-023102
Abstrakt:	Objectives: Lynch syndrome (LS), a genetically inherited autosomal disorder, increases the incidence of colorectal carcinoma (CRC). We aimed to perform a universal strategy to assess the prevalence and clinicopathological characteristics of early onset CRCs at high risk of LS versus late-onset ones in the Iranian population. Setting: A local population-based study from Northeastern Iran. Participants: 321 consecutive CRCs and pathology specimen screened between 2013 and 2016. Primary and Secondary Outcome Measures: Retrospectively, information regarding the clinical criteria was obtained by interviewing the patients with CRC or, their families. Pathologists tested tumours with immunohistochemistry (IHC) staining of four mismatch repair (MMR) proteins ( MLH1, MSH2, MSH6 and PMS2 ). Tumours with absent IHC staining of MLH1 were tested for BRAF mutations to exclude sporadic CRCs. Prevalence of early onset CRCs at high risk of LS and familial CRC type X were assessed as primary and secondary outcome measures, respectively. Results: Of 321 CRCs (13/123 (10.57%), early onset vs 21/198 (10.6%) late-onset) were detected to be MMR-deficient (dMMR). Nine early onset cases and 14 late-onset ones with a loss of MLH1 underwent testing for the BRAF mutation, none of the early onset and four (2.02%) late-onset were recognised as sporadic. The difference in the outcome of IHC-analysis between early and late-onset CRCs at high risk of LS was not statistically significant (p=0.34). Majority of the suspected LS tumours from early onset patients had arisen in distal part (8/11 (72.72%) vs 8/14 (57.14%)), all of which were occurred in the rectum or sigmoid. Conclusion: Clinically, these findings suggest that in case of limitation for BRAF testing, the practitioner in Iran may consider managing early onset dMMR cases like LS until access to BRAF testing becomes available to them, before germline testing to accurately diagnose LS. Competing Interests: Competing interests: None declared. (© Author(s) (or their employer(s)) 2018. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze:	MEDLINE
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