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.

中文翻译：

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中东和北非国家林奇综合征的识别和管理：12 个国家的调查结果

背景

Lynch 综合征 (LS) 是结直肠癌 (CRC) 最常见的遗传形式，占所有 CRC 病例的 3%。LS 是由错配修复基因缺陷引起的，其特征是患 CRC、子宫内膜癌和其他几种癌症的风险很高。LS 的识别至关重要，因为结肠镜监测可显着改善患者的预后。最近，在中东和北非 (ME/NA) 国家建立了一个医生网络，以改善 LS 家庭的识别和管理。本调查的目的是评估该地区 LS 家庭当前的医疗保健。

方法

制定了一份调查问卷，解决以下问题： LS 临床管理指南的可用性；注意癌症家族史；鉴定和诊断 LS 的遗传服务的可用性；LS 监测知识的评估。网络成员和来自 ME/NA 和邻国的 LS 近期论文的作者被邀请参与调查并完成在线问卷调查。

结果

共邀请了55人，来自阿尔及利亚、阿塞拜疆、塞浦路斯、埃及、伊朗、约旦、科威特、黎巴嫩、摩洛哥、巴勒斯坦、突尼斯和土耳其等12个国家的19名受访者完成了问卷。结果显示，只有不到一半的受访国家考虑了 CRC 的家族史。12 个国家中有 3 个国家提供 LS 管理指南。大多数国家的基因检测家族的识别和选择是基于临床标准（阿姆斯特丹标准II或修订版贝塞斯达标准），只有一个国家进行了普查。在大多数接受调查的国家中，很少有医院或仅在研究环境中提供遗传服务。然而，

结论

ME/NA 国家对 LS 的识别和管理并不理想，因此该地区的大多数 LS 家族仍未被发现。未来的努力应侧重于提高普通人群和医生对 LS 的认识，以及改善这些国家的基础设施。