哥伦比亚子宫内膜癌分子诊断共识

Marc Edy Pierre, Angélica Viviana Fletcher Prieto, Juliana Rodríguez, Abraham Hernández Blanquisett, Ana Milena Gómez Camacho, Rafael Parra Medina, Lucrecia Mojica Silva, Robinson Fernández, Pedro Hernando Calderón Quiroz
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This article aims to present national recommendations from an expert consensus that allows unification and implementation of the molecular classification for women with endometrial cancer nationwide, with a rational use of resources and technology.\n\nMethods: Consensus of 36 experts in clinical oncology, oncological gynecology, pathology, and genetics, with clinical practice in the national territory. The leader group performed a literature review and structuring of questions rated 1 to 9 points. A modified nominal group technique was used. There was a face-to-face meeting with master presentations, deliberative dialogue, and Google Forms (Google LLC, Mountain View, CA, USA) questionnaire voting with analysis and discussion of responses. The non-consensual responses led to a second round of voting. 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This test must be requested for all endometrial cancers stage I-II, except in low risk (stage IA low grade endometrioid histology without linfovascular invasion normal p53) and, stages III-IV without residual disease, without affecting the request of subrogated immunohistochemistry molecular markers upon histology.\n\nThe consensus proposes that the POLE is requested after the immunohistochemistry and according to the categories in the risk classification established by the 2020 ESGO/ESTRO/ESP guidelines.\n\nRecommendation 4. It is recommended to perform immunohistochemistry for hormonal receptors for all women with endometrial cancer and the HER2 in patients with p53abn, simultaneously with the others immunohistochemistry markers.\n\nRecommendation 5. It is recommended to perform the immunohistochemistry markers (p53, MLH1, MSH2, MSH6 y PMS2) in an initial endometrial biopsy or curettage when the specimen is adequate and available. 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引用次数: 0

摘要

目的:癌症基因组图谱研究计划(TCGA)制定了具有预后和治疗作用的子宫内膜癌分子分类法,由于其成本高昂,该分类法被ProMisE(子宫内膜癌主动分子风险分类器)分类法所取代,并被国际指南达成共识。本文旨在通过专家共识提出国家建议,以便在全国范围内统一和实施子宫内膜癌妇女分子分类,合理利用资源和技术:由 36 位在全国范围内开展临床实践的临床肿瘤学、肿瘤妇科学、病理学和遗传学专家达成共识。领导小组进行了文献综述,并对 1 至 9 分的问题进行了结构化。采用了改良的名义小组技术。在面对面的会议上进行了主讲、商议对话和谷歌表格(Google LLC,美国加利福尼亚州山景城)问卷投票,并对答复进行了分析和讨论。未达成共识的答复导致了第二轮投票。最后编写并修改了最终稿件:综合专家小组成员的答复,根据证据提出了七项建议,但根据哥伦比亚的国情和实际情况进行了调整。建议 1:建议对所有子宫内膜癌进行分子分类,使用免疫组化标记物作为 TCGA 分类中最初提出的分子特征的替代结果。建议采用顺序检测策略,首先对所有患者同时进行免疫组化标记(p53、MLH1、MSH 2、MSH6、PMS2)检测,然后根据基于手术切片的风险分类要求进行 POLE(DNA 聚合酶ε)检测(如有)。建议 3:建议由妇科肿瘤专家根据最终病理报告申请 POLE(如有)。所有 I-II 期子宫内膜癌,除低危(IA 期低度子宫内膜样组织学,无血管内膜侵犯,p53 正常)和 III-IV 期无残留病灶外,都必须进行 POLE 检查,但不影响在组织学检查后申请代位免疫组化分子标记。建议 4:建议对所有子宫内膜癌妇女进行激素受体免疫组化,对 p53abn 患者进行 HER2 免疫组化,同时进行其他免疫组化标记。建议 5:如果标本充足且可用,建议在初次子宫内膜活检或刮宫术中进行免疫组化标记(p53、MLH1、MSH2、MSH6 y PMS2)。如果初次免疫组化检查结果不确定,或初次病理检查结果与最终病理检查结果存在组织学差异,建议在手术病理检查中重复分子图谱检查。免疫组化标记物必须根据 CAP(美国病理学家学会)的建议在病理报告中报告,与样本类型无关。建议 6:对于免疫组化显示 MLH1 表达缺失的患者,无论是否伴有 PMS2 表达缺失,都应进行 MLH1 启动子甲基化检测。建议 7:所有存在 MMR(错配修复)缺陷的患者都应接受遗传咨询,以排除林奇综合征。建议在进行辅助判断时,除了考虑经典的组织病理学标准外,还应考虑分子分类,2020 年 ESGO/ESTRO/ESP 指南中的预后组别分类也纳入了这一标准:根据哥伦比亚的国情,有必要在临床实践中实施子宫内膜癌分子分类,因为它具有预后和可能的预测价值。这将有助于确定哥伦比亚人口的特征,从而提供个性化的指导治疗。本文件为学术性、非法规性文件。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Colombian consensus for the molecular diagnosis of endometrial cancer

Objective: The Cancer Genome Atlas research program (TCGA) developed the molecular classification for endometrial cancer with prognostic and therapeutic utility, which was replaced by the ProMisE (Proactive Molecular Risk Classifier for Endometrial Cancer) classification by consensus and international guidelines due to its high cost. This article aims to present national recommendations from an expert consensus that allows unification and implementation of the molecular classification for women with endometrial cancer nationwide, with a rational use of resources and technology. Methods: Consensus of 36 experts in clinical oncology, oncological gynecology, pathology, and genetics, with clinical practice in the national territory. The leader group performed a literature review and structuring of questions rated 1 to 9 points. A modified nominal group technique was used. There was a face-to-face meeting with master presentations, deliberative dialogue, and Google Forms (Google LLC, Mountain View, CA, USA) questionnaire voting with analysis and discussion of responses. The non-consensual responses led to a second round of voting. The final manuscript was finally prepared and revised. Results: Seven recommendations were formulated integrating the panelist responses based on evidence, but adjusted to the Colombian context and reality. Recommendation 1. The molecular classification is recommended in all the endometrial cancers using the immunohistochemistry markers as subrogated results from the molecular profile initially proposed in the TCGA classification. Recommendation 2. The sequential test strategy is recommended, starting with the immunohistochemistry markers (p53, MLH1, MSH 2, MSH6, PMS2) simultaneously in all the patients, defining to request POLE (DNA polymerase epsilon) (if available) according to the risk classification based on the surgical piece. Recommendation 3. It is recommended, that the gynecologist oncologist should be the one to request the POLE (if available) according to the final pathology report. This test must be requested for all endometrial cancers stage I-II, except in low risk (stage IA low grade endometrioid histology without linfovascular invasion normal p53) and, stages III-IV without residual disease, without affecting the request of subrogated immunohistochemistry molecular markers upon histology. The consensus proposes that the POLE is requested after the immunohistochemistry and according to the categories in the risk classification established by the 2020 ESGO/ESTRO/ESP guidelines. Recommendation 4. It is recommended to perform immunohistochemistry for hormonal receptors for all women with endometrial cancer and the HER2 in patients with p53abn, simultaneously with the others immunohistochemistry markers. Recommendation 5. It is recommended to perform the immunohistochemistry markers (p53, MLH1, MSH2, MSH6 y PMS2) in an initial endometrial biopsy or curettage when the specimen is adequate and available. In case the initial immunohistochemistry is inconclusive, or there are histological discrepancies between the initial and definitive pathology, it is recommended to repeat the molecular profile in the surgical pathology. The immunohistochemistry markers must be reported in the pathology report according to the CAP (College of American Pathologists) recommendations, independently of the type of sample. Recommendation 6. It is recommended to perform MLH1 promoter methylation testing in patients who exhibit loss of expression of MLH1 in immunohistochemistry whether it is accompanied or not with loss of expression of PMS2. All the patients with deficient MMR (mismatch repair), should be sent for genetic counseling to rule out Lynch syndrome. Recommendation 7. It is recommended to consider the molecular classification in addition to the classical histopathological criteria when making adjuvant judgments, as incorporated by the classification of prognostic groups of the 2020 ESGO/ESTRO/ESP guidelines. Conclusions: It is necessary to implement the molecular classification of endometrial cancer in clinical practice in accordance to the Colombian context, due to its prognostic and probably predictive value. This will enable the characterization of the Colombian population in order to offer individualized guided treatments. This is an academic and nonregulatory document.

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