Genomic Signatures in Luminal Breast Cancer

被引:22
作者
Puppe, Julian
Seifert, Tabea
Eichler, Christian
Pilch, Henryk
Mallmann, Peter
Malter, Wolfram
机构
[1] Univ Cologne, Dept Obstet & Gynecol, Fac Med, Cologne, Germany
[2] Univ Cologne, Univ Hosp Cologne, Cologne, Germany
关键词
Breast cancer; Gene expression; Luminal breast cancer; Prognostic biomarker; Predictive biomarker; 21-GENE RECURRENCE SCORE; INTERNATIONAL EXPERT CONSENSUS; LATE DISTANT RECURRENCE; GENE-EXPRESSION; PAM50; RISK; POSTMENOPAUSAL PATIENTS; ANALYTICAL VALIDATION; MOLECULAR PORTRAITS; DECISION-MAKING; PRIMARY THERAPY;
D O I
10.1159/000509846
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Background:Breast cancer is a very heterogeneous disease and luminal breast carcinomas represent the hormone receptor-positive tumors among all breast cancer subtypes. In this context, multigene signatures were developed to gain further prognostic and predictive information beyond clinical parameters and traditional immunohistochemical markers.Summary:For early breast cancer patients these molecular tools can guide clinicians to decide on the extension of endocrine therapy to avoid over- and undertreatment by adjuvant chemotherapy. Beside the predictive and prognostic value, a few genomic tests are also able to provide intrinsic subtype classification. In this review, we compare the most frequently used and commercially available molecular tests (OncotypeDX (R), MammaPrint (R), Prosigna (R), EndoPredict (R), and Breast Cancer Index(SM)). Moreover, we discuss the clinical utility of molecular profiling for advanced breast cancer of the luminal subtype.Key Messages:Multigene assays can help to de-escalate systemic therapy in early-stage breast cancer. Only the Oncotype DX (R) and MammaPrint (R)degrees test are validated by entirely prospective and randomized phase 3 trials. More clinical evidence is needed to support the use of genomic tests in node-positive disease. Recent developments in high-throughput sequencing technology will provide further insights to understand the heterogeneity of luminal breast cancers in early-stage and metastatic disease.
引用
收藏
页码:355 / 365
页数:11
相关论文
共 94 条
[51]   MammaPrint and BluePrint Molecular Diagnostics Using Targeted RNA Next-Generation Sequencing Technology [J].
Mittempergher, Lorenza ;
Delahaye, Leonie J. M. J. ;
Witteveen, Anke T. ;
Spangler, Jacob B. ;
Hassenmahomed, Fariet ;
Mee, Sammy ;
Mahmoudi, Soufiane ;
Chen, Jiang ;
Bao, Simon ;
Snel, Mireille H. J. ;
Leidelmeijer, Sandra ;
Besseling, Naomi ;
Lucas, Anne Bergstrom ;
Pabon-Pena, Carlos ;
Linn, Sabine C. ;
Dreezen, Christa ;
Wehkamp, Diederik ;
Chan, Bob Y. ;
Bernards, Rene ;
van't Veer, Laura J. ;
Glas, Annuska M. .
JOURNAL OF MOLECULAR DIAGNOSTICS, 2019, 21 (05) :808-823
[52]   Gene Expression Profiles from Formalin Fixed Paraffin Embedded Breast Cancer Tissue Are Largely Comparable to Fresh Frozen Matched Tissue [J].
Mittempergher, Lorenza ;
de Ronde, Jorma J. ;
Nieuwland, Marja ;
Kerkhoven, Ron M. ;
Simon, Iris ;
Rutgers, Emiel J. Th ;
Wessels, Lodewyk F. A. ;
Van't Veer, Laura J. .
PLOS ONE, 2011, 6 (02)
[53]  
NCCN, 2019, Clinical Practice Guidelines in Oncology. Occult Primary (Cancer of Unknown Primary [CUP]), Version 1.2020
[54]   Analytical validation of the PAM50-based Prosigna Breast Cancer Prognostic Gene Signature Assay and nCounter Analysis System using formalin-fixed paraffin-embedded breast tumor specimens [J].
Nielsen, Torsten ;
Wallden, Brett ;
Schaper, Carl ;
Ferree, Sean ;
Liu, Shuzhen ;
Gao, Dongxia ;
Barry, Garrett ;
Dowidar, Naeem ;
Maysuria, Malini ;
Storhoff, James .
BMC CANCER, 2014, 14
[55]   A Comparison of PAM50 Intrinsic Subtyping with Immunohistochemistry and Clinical Prognostic Factors in Tamoxifen-Treated Estrogen Receptor-Positive Breast Cancer [J].
Nielsen, Torsten O. ;
Parker, Joel S. ;
Leung, Samuel ;
Voduc, David ;
Ebbert, Mark ;
Vickery, Tammi ;
Davies, Sherri R. ;
Snider, Jacqueline ;
Stijleman, Inge J. ;
Reed, Jerry ;
Cheang, Maggie C. U. ;
Mardis, Elaine R. ;
Perou, Charles M. ;
Bernard, Philip S. ;
Ellis, Matthew J. .
CLINICAL CANCER RESEARCH, 2010, 16 (21) :5222-5232
[56]   West German Study PlanB Trial: Adjuvant Four Cycles of Epirubicin and Cyclophosphamide Plus Docetaxel Versus Six Cycles of Docetaxel and Cyclophosphamide in HER2-Negative Early Breast Cancer [J].
Nitz, Ulrike ;
Gluz, Oleg ;
Clemens, Michael ;
Malter, Wolfram ;
Reimer, Toralf ;
Nuding, Benno ;
Aktas, Bahriye ;
Stefek, Andrea ;
Pollmanns, Anke ;
Lorenz-Salehi, Fatemeh ;
Uleer, Christoph ;
Krabisch, Petra ;
Kuemmel, Sherko ;
Liedtke, Cornelia ;
Shak, Steven ;
Wuerstlein, Rachel ;
Christgen, Matthias ;
Kates, Ronald E. ;
Kreipe, Hans H. ;
Harbeck, Nadia ;
Ackermann, S. ;
Aktas, B. ;
Augustin, D. ;
Baake, G. ;
Baumann, K. ;
Berger, R. ;
Bettscheider, J. ;
Bischoff, J. ;
Clemens, M. ;
Deryal, M. ;
Dubbers, H. ;
Duchting, D. ;
Dunnebacke, J. ;
Fett, W. ;
Fietz, T. ;
Fischer, H. ;
Forner, M. ;
Forstbauer, H. ;
Freese, K. ;
Geberth, M. ;
Glados, M. ;
Gnauert, K. ;
Goette, O. ;
Gohring, U. ;
Goppinger, A. ;
Grafe, A. ;
Hackenberg, R. ;
Hackmann, J. ;
Hellriegel, M. ;
Heyl, V. .
JOURNAL OF CLINICAL ONCOLOGY, 2019, 37 (10) :799-+
[57]   PIK3CA and MAP3K1 alterations imply luminal A status and are associated with clinical benefit from pan-PI3K inhibitor buparlisib and letrozole in ER+ metastatic breast cancer [J].
Nixon, Mellissa J. ;
Formisano, Luigi ;
Mayer, Ingrid A. ;
Estrada, M. Valeria ;
Gonzalez-Ericsson, Paula, I ;
Isakoff, Steven J. ;
Forero-Torres, Andres ;
Won, Helen ;
Sanders, Melinda E. ;
Solit, David B. ;
Berger, Michael F. ;
Cantley, Lewis C. ;
Winer, Eric P. ;
Arteaga, Carlos L. ;
Balko, Justin M. .
NPJ BREAST CANCER, 2019, 5 (1)
[58]   A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer [J].
Paik, S ;
Shak, S ;
Tang, G ;
Kim, C ;
Baker, J ;
Cronin, M ;
Baehner, FL ;
Walker, MG ;
Watson, D ;
Park, T ;
Hiller, W ;
Fisher, ER ;
Wickerham, DL ;
Bryant, J ;
Wolmark, N .
NEW ENGLAND JOURNAL OF MEDICINE, 2004, 351 (27) :2817-2826
[59]   Gene expression and benefit of chemotherapy in women with node-negative, estrogen receptor-positive breast cancer [J].
Paik, Soonmyung ;
Tang, Gong ;
Shak, Steven ;
Kim, Chungyeul ;
Baker, Joffre ;
Kim, Wanseop ;
Cronin, Maureen ;
Baehner, Frederick L. ;
Watson, Drew ;
Bryant, John ;
Costantino, Joseph P. ;
Geyer, Charles E., Jr. ;
Wickerham, D. Lawrence ;
Wolmark, Norman .
JOURNAL OF CLINICAL ONCOLOGY, 2006, 24 (23) :3726-3734
[60]   Supervised Risk Predictor of Breast Cancer Based on Intrinsic Subtypes [J].
Parker, Joel S. ;
Mullins, Michael ;
Cheang, Maggie C. U. ;
Leung, Samuel ;
Voduc, David ;
Vickery, Tammi ;
Davies, Sherri ;
Fauron, Christiane ;
He, Xiaping ;
Hu, Zhiyuan ;
Quackenbush, John F. ;
Stijleman, Inge J. ;
Palazzo, Juan ;
Marron, J. S. ;
Nobel, Andrew B. ;
Mardis, Elaine ;
Nielsen, Torsten O. ;
Ellis, Matthew J. ;
Perou, Charles M. ;
Bernard, Philip S. .
JOURNAL OF CLINICAL ONCOLOGY, 2009, 27 (08) :1160-1167