Gastroentérologie Clinique et Biologique (2010) 34, 325—328 CLINICAL CASE Small bowel carcinoma revealing HNPCC syndrome Carcinome de l’intestin grêle révélant un syndrome HNPCC T. Babba a,* , O. Schischmanoff b , C. Lagorce c , P. Wind d , G. Des Guetz e , T. Aparicio a , R. Benamouzig a a Service de gastroentérologie, hôpital Avicenne, 125, rue de Stalingrad, 93009 Bobigny cedex, France b Service de biochimie, hôpital Avicenne, 125, rue de Stalingrad, 93009 Bobigny cedex, France c Service d’anatomopathologie, hôpital Avicenne, 125, rue de Stalingrad, 93009 Bobigny cedex, France d Service de chirurgie digestive, hôpital Avicenne, 125, rue de Stalingrad, 93009 Bobigny cedex, France e Service d’oncologie médicale, hôpital Avicenne, 125, rue de Stalingrad, 93009 Bobigny cedex, France Summary Small bowel adenocarcinoma is a rare condition with poor prognosis. Like colorec- tal cancer, small bowel carcinoma may be a part of genetic syndromes with carcinogenetic pathways different from sporadic forms. We report a case of 41-year-old man with small bowel carcinoma revealing hereditary non polyposis colorectal cancer (HNPCC) syndrome. This report supports the systematic study of the MSI status in every patient with a small bowel carcinoma below 60-year-old of age in order to screen for HNPCC syndrome even in the absence of a family history of related cancers. © 2010 Elsevier Masson SAS. All rights reserved. Introduction Lynch’s syndrome or hereditary non polyposis colorectal can- cer (HNPCC) syndrome is an autosomic dominant condition predisposing to multiple cancer occurring at a young age [1]. All cancers from the HNPCC spectrum may reveal this syndrome especially in the presence of a familial history of cancer [2]. We report a case of 41-year-man presenting a small bowel adenocarcinoma (SBA) without known familial history of cancer. The identification of microsatellite instability asso- * Corresponding author. E-mail address: thouraya.babba@avc.aphp.fr (T. Babba). ciated with the absence of BRAF mutation strongly suggests the diagnosis of HNPCC syndrome, which was confirmed by the identification of a MLH1 mutation. Case report A 41-year-old man coming from India without known pathol- ogy was admitted in hospital for epigastric pain associated with vomiting and recent weight loss of 12 kg in the last 2 months. The clinical examination was normal and the blood test revealed iron deficiency anaemia. The upper gas- trointestinal endoscopy demonstrates a tumoral mass of the junction between second and third segment of the duode- num. The anatomopathological examination of the biopsies revealed the diagnosis of adenocarcinoma. The CT scan 0399-8320/$ – see front matter © 2010 Elsevier Masson SAS. All rights reserved. doi:10.1016/j.gcb.2010.04.007 © 2021 Elsevier Masson SAS. Tous droits réservés. - Document téléchargé le 27/11/2021 Il est interdit et illégal de diffuser ce document.