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妇科癌症中林奇综合征的筛查:国际调查结果及对同源重组修复免疫组化结果统一报告术语的建议

Lynch syndrome screening in gynaecological cancers: results of an international survey with recommendations for uniform reporting terminology for mismatch repair immunohistochemistry results.

机构信息

Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester, St Mary's Hospital, Manchester, UK.

Department of Cellular Pathology, Barts Health NHS Trust, London, UK.

出版信息

Histopathology. 2019 Dec;75(6):813-824. doi: 10.1111/his.13925. Epub 2019 Sep 6.

Abstract

AIMS

Lynch syndrome (LS) is associated with an increased risk of developing endometrial carcinoma (EC) and ovarian carcinoma (OC). There is considerable variability in current practices and opinions related to screening of newly diagnosed patients with EC/OC for LS. An online survey was undertaken to explore the extent of these differences.

METHODS AND RESULTS

An online questionnaire was developed by a panel of experts and sent to all members of the British Association of Gynaecological Pathologists (BAGP) and the International Society of Gynecological Pathologists (ISGyP). Anonymised results were received and analysed. Thirty-six BAGP and 44 ISGyP members completed the survey. More than 90% of respondents were aware of the association of LS with both EC and OC, but 34% were not aware of specific guidelines for LS screening. Seventy-one per cent of respondents agreed that universal screening for LS should be carried out in all newly diagnosed EC cases, with immunohistochemistry (IHC) alone as the preferred approach. Only 36% of respondents currently performed IHC or microsatellite instability testing on all newly diagnosed EC cases, with most of the remaining respondents practising selective screening, based on clinical or pathological features or both. A significant minority of respondents (35%) believed that patient consent was required before performance of mismatch repair (MMR) protein IHC. Almost all respondents favoured the use of standardised terminology for reporting MMR protein staining results, and this is proposed herein.

CONCLUSION

There is wide support for universal LS screening in patients with EC, but this survey highlights areas of considerable variation in practice.

摘要

目的

林奇综合征(LS)与子宫内膜癌(EC)和卵巢癌(OC)的发生风险增加有关。目前,对新诊断的 EC/OC 患者进行 LS 筛查的相关实践和意见存在相当大的差异。我们进行了一项在线调查,以探讨这些差异的程度。

方法和结果

由一组专家制定了一份在线问卷,并分发给英国妇科病理学家协会(BAGP)和国际妇科病理学家协会(ISGyP)的所有成员。匿名结果被接收和分析。36 名 BAGP 和 44 名 ISGyP 成员完成了这项调查。超过 90%的受访者意识到 LS 与 EC 和 OC 均有关联,但 34%的人不知道 LS 筛查的具体指南。71%的受访者同意应在所有新诊断的 EC 病例中进行 LS 的普遍筛查,首选方法为免疫组织化学(IHC)。目前,只有 36%的受访者对所有新诊断的 EC 病例进行 IHC 或微卫星不稳定性检测,其余大多数受访者根据临床或病理特征或两者兼而有之进行选择性筛查。少数受访者(35%)认为在进行错配修复(MMR)蛋白免疫组化检测之前需要获得患者同意。几乎所有受访者都赞成使用标准化术语报告 MMR 蛋白染色结果,本文提出了这些术语。

结论

在 EC 患者中广泛支持 LS 的普遍筛查,但这项调查突出了实践中存在的相当大的差异。

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