Main Article Content
Abstract
RÉSUMÉ
Objectif. le but du présent travail est d’illustrer l’intérêt de l’immunohistochimie (IHC) dans la recherche étiologique des cancers colorectaux (CCR) héréditaires. Patients et Méthodes. Par la technique d’IHC, nous avons analysé 34 CCR familiaux suspectés syndrome de Lynch (SL) à partir des critères cliniques directifs de Bethesda et des pedigrees en faveur d’un mode de transmission autosomique dominant. Le diagnostic du cancer a reposé sur la clinique et l’examen anatomopathologique. Les anticorps anti-MMR : MLH1, MSH2, MSH6, PMS2 et EpCam ont été utilisés pour la détection des protéines. Résultat. Au moyen de cette technique, nous avons trouvé cinq malades soit 5% des CCR porteurs d’une immunodéficience de l’un des gènes MMR impliquant MLH1 and MSH2 en faveur du SL. Conclusion. L’IHC associée aux arbres généalogiques et aux critères cliniques, est une bonne alternative au diagnostic de certitude du SL.
ABSTRACT
Objective. The aim of our work is to illustrate the value of immunohistochemistry (IHC) in the etiological investigation of hereditary colorectal cancer (CRC). Patients and methods. We used IHC methods to analyze 34 familial CRCs suspected of Lynch syndrome (LS), according to Bethesda criteria and pedigrees pointing to autosomal dominant tranmission. The diagnosis of the cancer was based on clinical signs and pathological analysis. Anti-MMR antibodies (MLH1, MSH2, MSH6, PMS2) and Epcam were used for proteins detection. Results. Using this technique, we found five patients (5% of CCRs) carrying an immunodeficiency of one of the MMR genes involving MLH and MSH2 in favour of LS. Conclusion. IHC associated with pedigrees and clinical criteria is a good alternative for definite LS diagnosis.
Article Details
References
- Plummer JM, Chin SN, Aronson M, et al. Lynch syndrome in a predominantly Afrocentric population: a clinicopathological and genetic study. Can J Surg 2012; 55: 294-300.
- Poaty H. Le cancer: une maladie génétique ? Carcinol Clin Afrique 2016;15(2): 32-42
- Half E, Bercovich D, Rozen R. Familial adenomatous polyposis. Orphanet Journal of rare disease 2009; 4(22):1-23.
- Lynch HT, Lynch JF, Attard TA. Diagnosis and management of hereditary colorectal cancer syndromes: lynch syndrome as a model. CMAJ 2009; 181: 273-280
- Jelsig AM, Qvist N, Brusgaard K, et al. Hamartomatous polyposis syndromes: A review. Orphanet Journal of Rare Diseases 2014, 9:101
- Samar H, Nawab A, Parimal C. Molecular signaling mechanisms of apoptosis in hereditary non-polyposis colorectal cancer. World J Gastrointest Pathophysiol 2012; 3: 71-79.
- Tutlewska K, Lubinski J, Kurzawski G. Germline deletions in the EpCam gene as a cause of Lynch syndrome-Literature review. Hered Cancer Clin Pract 2013; 11: 9.
- Jun-Yu Lu, Jian Quin S. Advances in the study of lynch syndrome in china. World J gastroenterology 2005; 21: 6861-6871.
- Poaty H, Coullin P, Leguern E, et al Etude cytogénomique de la môle hydatiforme et du Choriocarcinome gestationnel. Bull du Cancer 2012; 99(9): 827-843.
- Qi Liu, Xiaoxia Li, Sen Li, et al. Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis. Tumor Biol 2016; 37:11421-11427.
- Aihara H, Kumar N, Thompson CC. Diagnosis, surveillance, and treatment strategies for familial adenomatous polyposis: rationale and update. Eur J Gastroenterol Hepatol. 2014; 26(3): 255-62.
References
Plummer JM, Chin SN, Aronson M, et al. Lynch syndrome in a predominantly Afrocentric population: a clinicopathological and genetic study. Can J Surg 2012; 55: 294-300.
Poaty H. Le cancer: une maladie génétique ? Carcinol Clin Afrique 2016;15(2): 32-42
Half E, Bercovich D, Rozen R. Familial adenomatous polyposis. Orphanet Journal of rare disease 2009; 4(22):1-23.
Lynch HT, Lynch JF, Attard TA. Diagnosis and management of hereditary colorectal cancer syndromes: lynch syndrome as a model. CMAJ 2009; 181: 273-280
Jelsig AM, Qvist N, Brusgaard K, et al. Hamartomatous polyposis syndromes: A review. Orphanet Journal of Rare Diseases 2014, 9:101
Samar H, Nawab A, Parimal C. Molecular signaling mechanisms of apoptosis in hereditary non-polyposis colorectal cancer. World J Gastrointest Pathophysiol 2012; 3: 71-79.
Tutlewska K, Lubinski J, Kurzawski G. Germline deletions in the EpCam gene as a cause of Lynch syndrome-Literature review. Hered Cancer Clin Pract 2013; 11: 9.
Jun-Yu Lu, Jian Quin S. Advances in the study of lynch syndrome in china. World J gastroenterology 2005; 21: 6861-6871.
Poaty H, Coullin P, Leguern E, et al Etude cytogénomique de la môle hydatiforme et du Choriocarcinome gestationnel. Bull du Cancer 2012; 99(9): 827-843.
Qi Liu, Xiaoxia Li, Sen Li, et al. Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis. Tumor Biol 2016; 37:11421-11427.
Aihara H, Kumar N, Thompson CC. Diagnosis, surveillance, and treatment strategies for familial adenomatous polyposis: rationale and update. Eur J Gastroenterol Hepatol. 2014; 26(3): 255-62.