欧盟多基因检测指导乳腺癌化疗倡议
预测复发风险和化疗效果，对于优化早期乳腺癌术后辅助治疗至关重要。虽然多基因检测已被临床常规用于预测复发，但是现有指南推荐意见并不一致。
2021年2月18日，英国癌症研究基金会《英国癌症杂志》在线发表意大利、德国、西班牙、爱尔兰、荷兰、英国、加拿大、瑞士、瑞典、捷克、挪威、希腊等国联合起草的欧洲联盟委员会乳腺癌倡议（ECIBC）多基因检测指导激素受体阳性HER2阴性淋巴结阴性或至多3枚淋巴结阳性早期乳腺浸润癌患者术后辅助化疗推荐意见。
欧洲联盟委员会乳腺癌倡议（ECIBC）指南制定协作组是一个多学科指南委员会，由专家和三位患者组成，根据推荐意见分级、评定、制定与评价（GRADE）决策证据体系，对研究证据进行系统回顾，从而提出推荐意见。
被评价的多基因检测包括：
21基因复发评分（21-RS）
70基因特征评分（70-GS）
50基因复发风险评分（PAM50-RORS）
12基因分子评分（12-MS）
结果，5项研究符合条件：
2项基因检测随机对照研究：70基因MINDACT研究、21基因TAILORx研究
2项随机对照研究二次分析：21基因SWOG-8814研究和NSABP-B20研究
1项观察研究数据汇总分析：70基因
未发现符合条件的50基因或12基因研究，故指南制定协作组未对这些检测制定推荐意见。
因此，欧洲联盟委员会乳腺癌倡议（ECIBC）指南制定协作组建议：
对于淋巴结阴性女性：推荐21基因检测（有条件推荐，证据确定性：极低），根据临床特征，复发风险较高女性获益可能较大。
对于临床高风险女性：推荐70基因检测（有条件推荐，证据确定性：较低）并且不推荐对临床低风险女性进行70基因检测（推荐意见级别：强，证据确定性：较低）。
Br J Cancer. 2021 Feb 18. Online ahead of print.
Recommendations from the European Commission Initiative on Breast Cancer for multigene testing to guide the use of adjuvant chemotherapy in patients with early breast cancer, hormone receptor positive, HER-2 negative.
Paolo Giorgi Rossi, Annette Lebeau, Carlos Canelo-Aybar, Zuleika Saz-Parkinson, Cecily Quinn, Miranda Langendam, Helen Mcgarrigle, Sue Warman, David Rigau, Pablo Alonso-Coello, Mireille Broeders, Axel Graewingholt, Margarita Posso, Stephen Duffy, Holger J. Schünemann, Mariangela Autelitano, Bettina Borisch, Xavier Castells, Edoardo Colzani, Jan Danes, Patricia Fitzpatrick, Livia Giordano, Solveig Hofvind, Lydia Ioannidou-Mouzaka, Susan Knox, Lennarth Nystrom, Elena Parmelli, Elsa Perez, Alberto Torresin, Ruben Van Engen, Cary Van Landsveld-Verhoeven, Ken Young; ECIBC Contributor Group.
Azienda Unità Sanitaria Locale—IRCCS di Reggio Emilia, Reggio Emilia, Italy; European Commission, Joint Research Centre (JRC), Ispra, Italy; Cancer Registry of Milan, Milan, Italy; CPO-Piedmont - AOU Citta della Salute e della Scienza, Torino, Italy; Europa Donna, Milan, Italy; European Commission, Joint Research Centre, Ispra, Italy; Ospedale Niguarda Ca' Granda, Milan, Italy; University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Radiologie am Theater, Paderborn, NRW, Germany; Iberoamerican Cochrane Center, Biomedical Research Institute (IIB Sant Pau-CIBERESP), Barcelona, Spain; Universitat Autònoma de Barcelona, Bellaterra, Spain; Instituto de Salud Carlos III, Health Technology Assessment Agency, Madrid, Spain; IMIM (Hospital del Mar Medical Research Institute), Barcelona, Spain; Research Network on Health Services in Chronic Diseases (REDISSEC), Barcelona, Spain; University Hospital Dr. Josep Trueta, Girona, Spain; St. Vincent's University Hospital, Dublin, Ireland; National Screening Service, Dublin, Ireland; University of Amsterdam, Amsterdam Public Health Institute, Amsterdam, The Netherlands; Radboud University Medical Center, Nijmegen, the Netherlands; Dutch Expert Centre for Screening, Nijmegen, the Netherlands; Dutch Reference Centre for Screening, Nijmegen, The Netherlands; Cardiff and Vale UHB - General Surgery, Cardiff, UK; Havyatt Lodge, Havyatt Road, Langford, North Somerset, UK; Centre for Cancer Prevention, Queen Mary University of London, Charterhouse Square, London, UK; National Coordinating Centre for the Physics of Mammography, Guildford, UK; McMaster University Health Sciences Centre, Hamilton, Ontario, Canada; Institute of Global Health. University of Geneva, Geneva, Switzerland; European Centre for Disease Control and prevention (ECDC), Solna, Sweden; Umea University, Umea, Sweden; Charles University in Prague, Prague, Czech Republic; Cancer Registry of Norway, Oslo, Norway; University of Athens Medical School, Athens, Greece.
BACKGROUND: Predicting the risk of recurrence and response to chemotherapy in women with early breast cancer is crucial to optimise adjuvant treatment. Despite the common practice of using multigene tests to predict recurrence, existing recommendations are inconsistent. Our aim was to formulate healthcare recommendations for the question “Should multigene tests be used in women who have early invasive breast cancer, hormone receptor-positive, HER2-negative, to guide the use of adjuvant chemotherapy?”
METHODS: The European Commission Initiative on Breast Cancer (ECIBC) Guidelines Development Group (GDG), a multidisciplinary guideline panel including experts and three patients, developed recommendations informed by systematic reviews of the evidence. Grading of Recommendations Assessment, Development and Evaluation (GRADE) Evidence to Decision frameworks were used. Four multigene tests were evaluated: the 21-gene recurrence score (21-RS), the 70-gene signature (70-GS), the PAM50 risk of recurrence score (PAM50-RORS), and the 12-gene molecular score (12-MS).
RESULTS: Five studies (2 marker-based design RCTs, two treatment interaction design RCTs and 1 pooled individual data analysis from observational studies) were included; no eligible studies on PAM50-RORS or 12-MS were identified and the GDG did not formulate recommendations for these tests.
CONCLUSIONS: The ECIBC GDG suggests the use of the 21-RS for lymph node-negative women (conditional recommendation, very low certainty of evidence), recognising that benefits are probably larger in women at high risk of recurrence based on clinical characteristics. The ECIBC GDG suggests the use of the 70-GS for women at high clinical risk (conditional recommendation, low certainty of evidence), and recommends not using 70-GS in women at low clinical risk (strong recommendation, low certainty of evidence).
DOI: 10.1038/s41416-020-01247-z