Identification and management of Lynch syndrome in the Middle East and North African countries: outcome of a survey in 12 countries

Abstract

Background Lynch syndrome (LS), the most common inherited form of colorectal cancer (CRC), is responsible for 3% of all cases of CRC. LS is caused by a mismatch repair gene defect and is characterized by a high risk for CRC, endometrial cancer and several other cancers. Identification of LS is of utmost importance because colonoscopic surveillance substantially improves a patient’s prognosis. Recently, a network of physicians in Middle Eastern and North African (ME/NA) countries was established to improve the identification and management of LS families. The aim of the present survey was to evaluate current healthcare for families with LS in this region. Methods A questionnaire was developed that addressed the following issues: availability of clinical management guidelines for LS; attention paid to family history of cancer; availability of genetic services for identification and diagnosis of LS; and assessment of knowledge of LS surveillance. Members of the network and authors of recent papers on LS from ME/NA and neighbouring countries were invited to participate in the survey and complete the online questionnaire. Results A total of 55 individuals were invited and 19 respondents from twelve countries including Algeria, Azerbaijan, Cyprus, Egypt, Iran, Jordan, Kuwait, Lebanon, Morocco, Palestine, Tunisia, and Turkey completed the questionnaire. The results showed that family history of CRC is considered in less than half of the surveyed countries. Guidelines for the management of LS are available in three out of twelve countries. The identification and selection of families for genetic testing were based on clinical criteria (Amsterdam criteria II or Revised Bethesda criteria) in most countries, and only one country performed universal screening. In most of the surveyed countries genetic services were available in few hospitals or only in a research setting. However, surveillance of LS families was offered in the majority of countries and most frequently consisted of regular colonoscopy. Conclusion The identification and management of LS in ME/NA countries are suboptimal and as a result most LS families in the region remain undetected. Future efforts should focus on increasing awareness of LS amongst both the general population and doctors, and on the improvement of the infrastructure in these countries.

Characteristics of familial pancreatic cancer families with additional colorectal carcinoma

“…Despite the small patient cohort, the assumption that the co-occurrence between FPC and CRC is merely a coincidence is relatively unlikely, since 11 (15%) of 73 patients with PDAC also had CRC, but only 1 of these patients belonged to a hereditary non-polyposis colorectal cancer (HNPCC) family. In comparison, HNPCC is one of the most common familial aggregations of hereditary cancer in the gastrointestinal tract [ 45 ], but its association with PDAC was reported between 1.3 and 6%, and is not as striking [ 46 – 48 ]. Similar low co-occurrences are seen in Familial Adenomatous Polyposis [ 21 ], which is related to the germline mutations of the APC gene [ 49 ].…”

Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria

“…In addition, the institutions that offer genetic diagnostic services in these countries are limited. Furthermore, it is suspected that in these countries, most families with LS are unidentified [ 62 ]. In Latin America, family history has been the main strategy for identifying patients at risk of LS, specifically in countries such as Brazil, Mexico, Paraguay, and Peru [ 63 ].…”