乳腺癌多基因检测的再思考:机遇与挑战

doi:10.6040/j.issn.1671-7554.0.2017.1036

摘要/Abstract

摘要： Oncotype DX^®(21基因)与MammaPrint^®(70基因)检测已先后获得美国临床肿瘤学会推荐,用于指导早期浸润性乳腺癌辅助治疗决策。但在目前循证医学证据下,多基因检测仍只能作为传统临床病理因素的补充,并应严格限制在特定群体中应用。此外,目前多基因检测仍存在检测一致性不高、远期预测价值有限、特定方案获益预测欠佳等诸多瓶颈。未来,依靠高通量平台建立多组学特征谱、多学科交叉创新预测模型及多节点监测风险动态演进应成为乳腺癌多基因检测的发展方向。

关键词: 乳腺癌, 多基因检测, Oncotype DX^®, , MammaPrint^®, , 机遇, 挑战

Abstract: Both Oncotype DX^® and MammaPrint^® have been recommended by American Society of Clinical Onco-logy(ASCO)to guide decisions on adjuvant systemic therapy for women with early-stage invasive breast cancer. However, based on current evidence, multigene tests are still regarded supplementary to traditional clinical pathological examinations, and confined to specific patients. Besides, there are still clinical challenges concerning multigene tests: slow concordance of risk assignment by different tests, inaccurate prediction of late recurrences and poor prediction of drug-specific or regimen-specific benefits. In the future, multi-omics characteristic spectrum based on high-throughput technology platforms, innovative prediction models based on interdisciplinary research, and dynamic risk monitoring based on repetitive tests, will offer new opportunities and directions for multigene tests of breast cancer.

Key words: Breast cancer, Multigene test, Oncotype DX^®, , MammaPrint^®, , Opportunities, Challenges

中图分类号:

R737.9

余之刚,王斐. 乳腺癌多基因检测的再思考:机遇与挑战[J]. 山东大学学报 (医学版), 2018, 56(1): 22-26.

YU Zhigang, WANG Fei. Concerns and perspectives for multigene tests of breast cancer: opportunities and challenges[J]. Journal of Shandong University (Health Sciences), 2018, 56(1): 22-26.

参考文献

[1] Amin MB, Edge SB, Greene FL, et al. AJCC cancer staging manual. 8th ed[M]. New York: Springer International Publishing, 2017.
[2] Harris L, Fritsche H, Mennel R, et al. American Society of Clinical Oncology 2007 update of recommendations for the use of tumor markers in breast cancer[J]. J Clin Oncol, 2007, 25(33): 5287-5312.
[3] Krop I, Ismaila N, Stearns V. Use of biomarkers to guide decisions on adjuvant systemic therapy for women with early-stage invasive breast cancer: American Society of Clinical Oncology Clinical Practice Focused Update Guideline Summary[J]. J Oncol Pract, 2017: JOP2017024646. doi: 10.1200/JOP.2017.024646.[Epub ahead of print]
[4] Cossetti RJ, Tyldesley SK, Speers CH, et al. Comparison of breast cancer recurrence and outcome patterns between patients treated from 1986 to 1992 and from 2004 to 2008[J]. J Clin Oncol, 2015, 33(1): 65-73.
[5] Jeruss JS, Mittendorf EA, Tucker SL, et al. Combined use of clinical and pathologic staging variables to define outcomes for breast cancer patients treated with neoadjuvant therapy[J]. J Clin Oncol, 2008, 26(2): 246-252.
[6] Paik S, Shak S, Tang G, et al. A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer[J]. N Engl J Med, 2004, 351(27): 2817-2826.
[7] Paik S, Tang G, Shak S, et al. Gene expression and benefit of chemotherapy in women with node-negative, estrogen receptor-positive breast cancer[J]. J Clin Oncol, 2006, 24(23): 3726-3734.
[8] van de Vijver MJ, He YD, vant VLJ, et al. A gene-expression signature as a predictor of survival in breast cancer[J]. N Engl J Med, 2002, 347(25): 1999-2009.
[9] Sorlie T, Tibshirani R, Parker J, et al. Repeated observation of breast tumor subtypes in independent gene expression data sets[J]. Proc Natl Acad Sci U S A, 2003, 100(14): 8418-8423.
[10] Ma XJ, Salunga R, Dahiya S, et al. A five-gene molecular grade index and HOXB13: IL17BR are complementary prognostic factors in early stage breast cancer[J]. Clin Cancer Res, 2008, 14(9): 2601-2608.
[11] Gong G, Kwon MJ, Han J, et al. A new molecular prognostic score for predicting the risk of distant metastasis in patients with HR+/HER2- early breast cancer[J]. Sci Rep, 2017, 7: 45554. doi: 10.1038/srep45554.
[12] Buyse M, Loi S, vant VL, et al. Validation and clinical utility of a 70-gene prognostic signature for women with node-negative breast cancer[J]. J Natl Cancer Inst, 2006, 98(17): 1183-1192.
[13] Mook S, Schmidt MK, Viale G, et al. The 70-gene prognosis-signature predicts disease outcome in breast cancer patients with 1-3 positive lymph nodes in an independent validation study[J]. Breast Cancer Res Treat, 2009, 116(2): 295-302.
[14] Sparano JA, Gray RJ, Makower DF, et al. Prospective validation of a 21-Gene expression assay in breast cancer[J]. N Engl J Med, 2015, 373(21): 2005-2014.
[15] Cardoso F, vant Veer LJ, Bogaerts J, et al. 70-Gene signature as an aid to treatment decisions in early-stage breast cancer[J]. N Engl J Med, 2016, 375(8): 717-729.
[16] Tang G, Shak S, Paik S, et al. Comparison of the prognostic and predictive utilities of the 21-gene recurrence score assay and adjuvant for women with node-negative, ER-positive breast cancer: results from NSABP B-14 and NSABP B-20[J]. Breast Cancer Res Treat, 2011, 127(1): 133-142.
[17] 江泽飞, 许凤锐. 乳腺癌精准医学: 热潮中的冷思考[J]. 中华外科杂志, 2017, 55(2): 90-94. JIANG Zefei, XU Fengrui. Calm thinking for precision medicine of breast cancer in the boom[J]. Chinese Journal of Surgery, 2017, 55(2): 90-94.
[18] Prat A, Parker JS, Fan C, et al. Concordance among gene expression-based predictors for ER-positive breast cancer treated with adjuvant tamoxifen[J]. Ann Oncol, 2012, 23(11): 2866-2873.
[19] Parker JS, Mullins M, Cheang MC, et al. Supervised risk predictor of breast cancer based on intrinsic subtypes[J]. J Clin Oncol, 2009, 27(8): 1160-1167.
[20] Wang Y, Klijn JG, Zhang Y, et al. Gene-expression profiles to predict distant metastasis of lymph-node-negative primary breast cancer[J]. Lancet, 2005, 365(9460): 671-679.
[21] Oh DS, Troester MA, Usary J, et al. Estrogen-regulated genes predict survival in hormone receptor-positive breast cancers[J]. J Clin Oncol, 2006, 24(11): 1656-1164.
[22] Iwamoto T, Lee JS, Bianchini G, et al. First generation prognostic gene signatures for breast cancer predict both survival and chemotherapy sensitivity and identify overlapping patient populations[J]. Breast Cancer Res Treat, 2011, 130(1): 155-164.
[23] Bianchini G, Iwamoto T, Qi Y, et al. Prognostic and therapeutic implications of distinct kinase expression patterns in different subtypes of breast cancer[J]. Cancer Res, 2010, 70(21): 8852-8862.
[24] Györffy B, Hatzis C, Sanft T, et al. Multigene prognostic tests in breast cancer: past, present, future[J]. Breast Cancer Res, 2015, 17: 11. doi: 10.1186/s13058-015-0514-2.
[25] Jahn B, Rochau U, Kurzthaler C, et al. Personalized treatment of women with early breast cancer: a risk-group specific cost-effectiveness analysis of adjuvant chemotherapy accounting for companion prognostic tests OncotypeDX and Adjuvant Online[J]. BMC Cancer, 2017, 17(1): 685.
[26] Davies C, Pan H, Godwin J, et al. Long-term effects of continuing adjuvant tamoxifen to 10 years versus stopping at 5 years after diagnosis of oestrogen receptor-positive breast cancer: ATLAS, a randomised trial[J]. Lancet, 2013, 381(9869): 805-816.
[27] Abramovitz M, Krie A, Dey N, et al. Identifying biomarkers to select patients with early breast cancer suitable for extended adjuvant endocrine therapy[J]. Curr Opin Oncol, 2016, 28(6): 461-468.
[28] Jinih M, Relihan N, Corrigan MA, et al. Extended adjuvant endocrine therapy in breast cancer: evidence and update — a review[J]. Breast J, 2017, 23(6): 694-705.
[29] Ribnikar D, Sousa B, Cufer T, et al. Extended adjuvant endocrine therapy - a standard to all or some[J]. Breast, 2017, 32: 112-118. doi: 10.1016/j.breast.2017.01.004
[30] Wolmark N, Mamounas EP, Baehner FL, et al. Prognostic impact of the combination of recurrence score and quantitative estrogen receptor expression(ESR1)on predicting late distant recurrence risk in estrogen receptor-positive breast cancer after 5 years of tamoxifen: results from NRG Oncology/National Surgical Adjuvant Breast and Bowel Project B-28 and B-14[J]. J Clin Oncol, 2016, 34(20): 2350-2358.
[31] Hequet D, Callens C, Gentien D, et al. Prospective, multicenter French study evaluating the clinical impact of the Breast Cancer Intrinsic Subtype-Prosigna^® Test in the management of early-stage breast cancers[J]. PLoS One, 2017, 12(10): e0185753. doi: 10.1371/journal.pone.0185753. eCollection 2017.
[32] Xu YC, Zhang FC, Li JJ, et al. RRM1, TUBB3, TOP2A, CYP19A1, CYP2D6: Difference between mRNA and protein expression in predicting prognosis of breast cancer patients[J]. Oncol Rep, 2015, 34(4): 1883-1894.
[33] He Q, Peng B, Zhuang D, et al. Clinicopathological significance of β-tubulin isotype III gene expression in breast cancer patients[J]. Cancer Biomark, 2015, 15(6): 823-831.
[34] EL Baiomy MA1, El Kashef WF. ERCC1 expression in metastatic triple negative breast cancer patients treated with platinum-based chemotherapy[J]. Asian Pac J Cancer Prev, 2017, 18(2): 507-513.
[35] He DX, Wu XL, Lu CX, et al. Genome-wide analysis of the three-way interplay among gene expression, estrogen receptor expression and chemotherapeutic sensitivity in breast cancer[J]. Oncol Rep, 2017, 38(6): 3392-3402.
[36] Hatzis C, Pusztai L, Valero V, et al. A genomic predictor of response and survival following taxane-anthracycline chemotherapy for invasive breast cancer[J]. JAMA, 2011, 305(18): 1873-1881.
[37] Loi S, Sirtaine N, Piette F, et al. Prognostic and predictive value of tumor-infiltrating lymphocytes in a phase III randomized adjuvant breast cancer trial in node-positive breast cancer comparing the addition of docetaxel to doxorubicin with doxorubicin-based chemotherapy: BIG 02-98[J]. J Clin Oncol, 2013, 31(7): 860-867.
[38] 马榕, 王建丽. 乳腺癌多基因检测及其临床意义[J]. 中国实用外科杂志, 2015, 35(7): 701-703. MA Rong, WANG Jianli. Multi-gene testing in breast cancer and clinical significance[J]. Chinese Journal of Practical Surgery, 2015, 35(7): 701-703.
[38] Birkbak NJ, Wang ZC, Kim JY, et al. Telomeric allelic imbalance indicates defective DNA repair and sensitivity to DNA-damaging agents[J]. Cancer Discov, 2012, 2(4): 366-375.
[40] Haynes B, Sarma A, Nangia-Makker P, et al. Breast cancer complexity: implications of intratumoral heterogeneity in clinical management[J]. Cancer Metastasis Rev, 2017, 36(3): 547-555.

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