The identification of Lynch syndrome in Congolese colorectal cancer patients.

Autor: Poaty H; Marien Ngouabi University, Faculty of Health Sciences, Histology-Embryology and Genetics Laboratory, Brazzaville, Republic of Congo; National Research Institute on Health Sciences, Brazzaville, Congo. Electronic address: henriettepoaty@gmail.com., Aba Gandzion C; Marien Ngouabi University, Faculty of Health Sciences, Histology-Embryology and Genetics Laboratory, Brazzaville, Republic of Congo., Soubeyran I; Cancer Institute of Bergonie, Morbid Anatomy Unit, 33000 Bordeaux, France., Gassaye D; CHU of Brazzaville, Gastro-Enterology Service, Brazzaville, Congo., Peko JF; CHU of Brazzaville, Morbid Anatomy Service, Brazzaville, Congo., Nkoua Bon JB; CHU of Brazzaville, Oncology Service, Brazzaville, Congo., Gombé Mbalawa C; National Research Institute on Health Sciences, Brazzaville, Congo.
Jazyk: angličtina
Zdroj: Bulletin du cancer [Bull Cancer] 2017 Oct; Vol. 104 (10), pp. 831-839. Date of Electronic Publication: 2017 Oct 06.
DOI: 10.1016/j.bulcan.2017.08.005
Abstrakt: Background: We aimed to investigate the prevalence of Lynch syndrome as one of hereditary causes of colorectal cancer (CRC) among young Congolese individuals affected by the CRC, and to define methods for diagnosis in Congo Brazzaville.
Methods: We conducted a transversal cohort study of 34 patients having a CRC with a family history for a period of eight years. They were selected among 89 CRCs of any type from the Bethesda guidelines criteria combined with pedigrees. Mismatch repair (MMR) genes alterations were researched by immunohistochemistry (IHC).
Results: We identified with the Bethesda criteria a total of 38.2% (34/89) patients having familial CRC with a confidence interval (CI) of 95%=[0.34-0.41]. Only 14.7% (5/34) 95% CI=[0.34-2.32] patients showed MMR immunodeficiency involving firstly MLH1 protein then MSH2 protein. These data account for 5.6% (5/89) 95% CI=[0.15-0.33] of patients affected by Lynch syndrome with an earlier median age of 35 years (range 20 to 47 years).
Conclusion: The prevalence of Lynch syndrome found in Brazzaville is comparable to that is found in northern countries. The combined Bethesda guidelines, pedigree and IHC is an accessible and good alternative method for the positive diagnosis of Lynch syndrome in current practice in Congo.
(Copyright © 2017 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE