[Molecular characterization of Lynch syndrome in Tunisia]. / Carastérisation moléculaire des mutations germinales et somatiques associées au cancer colorectal héréditaire sans polyposes en Tunisie.

BACKGROUND: High rates of early colorectal cancers (CRC) are observed in Tunisia suggesting genetic susceptibility. Nevertheless, up to now no molecular studies have been performed in the Tunisian population. AIM: To evaluate the clinical and genetic characteristics of Tunisian families suspected of hereditary nonpolyposis colorectal cancer (HNPCC) and to identify new tumoral markers for CRC susceptibility leading to distinguish patients with sporadic CRC from those with familial CRC, like HNPCC. METHODS: 31 unrelated families suspected of HNPCC were screened for germline mutations in MMR genes. We have also analyzed tumoral phenotype and the genetic characteristics of tumors from 51 patients with CRC meeting the Bethesda criteria. RESULTS: 10 different germ line mutations, 8 of which were novel, were identified in 11 out of the 31 families (35.5%), 5 in MSH2 and 5 in MLH1. Our results showed that MUC5AC expression was more frequent in patients with family history of CRC (p=0.039). CONCLUSION: The analysis of MUC5AC expression might be very beneficial in the detection of Tunisian patients with high susceptibility to CRC.

Cannabis: a rare cause of acute pancreatitis.

CONTEXT: Drugs of all types are related to the etiology of pancreatitis in approximately 2% of cases. However, there have been very few reports of acute pancreatitis associated with cannabis use in the general population. CASE REPORT: This report is the first such case in our country, and involves a 22-year-old North African man who presented to our emergency department with transfixiant epigastric abdominal pain, nausea and vomiting. The patient denied any past or familial medical history, was taking no medications chronically and had no history of trauma. The patient admitted to smoking one pack of cigarettes a day and occasional cannabis use, and no alcohol consumption. Biological and morphological explorations found Balthazar grade-A acute pancreatitis with no biliary dilatation or obstruction. The etiological workup was normal and, on repeat questioning, the patient admitted to being a regular and excessive user of cannabis, and to having done so 2 days before the abdominal pain. CONCLUSION: The use of cannabis is frequently seen worldwide and even in North Africa, and regular users, especially young adults, should be informed of the risk of this possible cannabis-induced pancreatic disease. This case should also be borne in mind, although the association of cannabis with pancreatitis is problematic because of the difficulty in monitoring cannabinoids in the body and the illegality of cannabis use and, consequently, getting patients to admit to using it.