Genomic aberrations and late recurrence in postmenopausal women with hormone receptor-positive early breast cancer: Results from the SOLE Trial.

Guerini-Rocco, Elena; Gray, Kathryn P.; Fumagalli, Caterina; Reforgiato, Marta Rita; Leone, Isabella; Rafaniello Raviele, Paola; Munzone, Elisabetta; Kammler, Roswitha; Neven, Patrick; Hitre, Erika; Jerusalem, Guy; Simoncini, Edda L.; Gombos, Andrea; Deleu, Ines; Karlsson, Per; Aebi, Stefan; Chirgwin, Jacquie; Di Lauro, Vincenzo; Thompson, Alastair M.; Graas, Marie-Pascale; Barber, Matthew; Fontaine, Christel; Loibl, Sibylle; Gavilá, Joaquín; Kuroi, Katsumasa; Müller, Bettina; O'Reilly, Seamus; Di Leo, Angelo; Goldhirsch, Aron; Viale, Giuseppe; Barberis, Massimo; Regan, Meredith M.; Colleoni, Marco

doi:10.1158/1078-0432.CCR-20-0126

Article (Scientific journals)

Genomic aberrations and late recurrence in postmenopausal women with hormone receptor-positive early breast cancer: Results from the SOLE Trial.

Guerini-Rocco, Elena; Gray, Kathryn P.; Fumagalli, Caterina et al.

2020 • In Clinical cancer research : an official journal of the American Association for Cancer Research

Peer reviewed

Permalink
https://hdl.handle.net/2268/252358

DOI
10.1158/1078-0432.CCR-20-0126

PubMed
33082214

Files (1)Send to Details Statistics Bibliography Similar publications

Files

Full Text

Genomic aberrations and late recurrence in postmenopausal women with hormone receptor-positive early breast cancer_ Results from the SOLE Trial.pdf

Publisher postprint (2.68 MB)

Request a copy

All documents in ORBi are protected by a user license.

Send to

RIS BibTex APA Chicago Permalink X Linkedin

Details

Keywords :

oncology

Abstract :

[en] PURPOSE: Women with hormone-receptor-positive early breast cancers have a persistent risk of relapse and biomarkers for late recurrence are needed. We sought to identify tumor genomic aberrations associated with increased late recurrence risk. EXPERIMENTAL DESIGN: In a secondary analysis of Study of Letrozole Extension (SOLE) trial, a case-cohort-like sampling selected 598 primary breast cancer for targeted next-generation sequencing (NGS) analysis of gene mutations and copy number gains (CNG). Correlations of genomic aberrations with clinicopathologic factors and breast and distant recurrence free-intervals (BCFI and DRFI) were analyzed using weighted Cox models. RESULTS: Analysis of mutations and CNG was successfully performed for 403 and 350 samples, including 148 and 134 patients with breast cancer recurrences (median follow-up time: 5.2 years), respectively. The most frequent alterations were PIK3CA mutations (42%) and CNGs of CCND1 (15%), ERBB2 (10%), FGFR1 (8%) and MYC (8%). PIK3CA mutations and MYC CNG were associated with lower (p=0.03) and higher (p=0.004) tumor grade respectively; a higher Ki67 was seen in tumor with CCND1, ERBB2 and MYC CNGs (p=0.01, <0.001 and 0.03 respectively). FGFR1 CNG was associated with an increased risk of late events in univariate analyses (17/29 patients; BCFI: HR=3.2, 95%CI: 1.48-6.92, p =0.003; DRFI: HR=3.5, 95%CI: 1.61-7.75, p=0.002) and in multivariable models adjusted for clinicopathologic factors. CONCLUSIONS: Postmenopausal women with hormone receptor-positive early breast cancer harboring FGFR1 CNG had an increased risk of late recurrence despite extended therapy. FGFR1 CNG may represent a useful prognostic biomarker for late recurrence and a therapeutic target.

Disciplines :

Oncology

Author, co-author :

Guerini-Rocco, Elena

Gray, Kathryn P.

Fumagalli, Caterina

Reforgiato, Marta Rita

Leone, Isabella

Rafaniello Raviele, Paola

Munzone, Elisabetta

Kammler, Roswitha

Neven, Patrick

Hitre, Erika

More authors (23 more)

Language :

English

Title :

Genomic aberrations and late recurrence in postmenopausal women with hormone receptor-positive early breast cancer: Results from the SOLE Trial.

Publication date :

October 2020

Journal title :

Clinical cancer research : an official journal of the American Association for Cancer Research

ISSN :

1078-0432

Peer reviewed :

Peer reviewed

Commentary :

Available on ORBi :

since 10 November 2020

Statistics

Number of views

47 (4 by ULiège)

Number of downloads

3 (3 by ULiège)

More statistics

Scopus citations^®

Scopus citations^®
without self-citations

OpenCitations

Bibliography

Colleoni M, Sun Z, Price KN, Karlsson P, Forbes JF, Thurlimann € B, et al. Annual hazard rates of recurrence for breast cancer during 24 years of follow-up: results from the International Breast Cancer Study Group Trials I to V. J Clin Oncol 2016;34:927–35.
Goss PE, Ingle JN, Pritchard KI, Robert NJ, Muss H, Gralow J, et al. Extending aromatase-inhibitor adjuvant therapy to 10 years. N Engl J Med 2016;375: 209–19.
Curigliano G, Burstein HJ, Winer EP, Gnant M, Dubsky P, Loibl S, et al. De-escalating and escalating treatments for early-stage breast cancer: the St. Gallen International Expert Consensus Conference on the Primary Therapy of Early Breast Cancer 2017. Ann Oncol 2018;28:1700–12.
Colleoni M, Luo W, Karlsson P, Chirgwin J, Aebi S, Jerusalem G, et al. Extended adjuvant intermittent letrozole versus continuous letrozole in postmenopausal women with breast cancer (SOLE): a multicentre, open-label, randomised, phase 3 trial. Lancet Oncol 2018;19:127–38.
The Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumors. Nature 2012;490:61–70.
Curtis C, Shah SP, Chin S-F, Turashvili G, Rueda OM, Dunning MJ, et al. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature 2012;486:346–52.
Sparano JA, Gray RJ, Makower DF, Pritchard KI, Albain KS, Hayes DF, et al. Adjuvant chemotherapy guided by a 21-gene expression assay in breast cancer. N Engl J Med 2018;379:111–21.
Cardoso F, van’t Veer LJ, Bogaerts J, Slaets L, Viale G, Delaloge S, et al. 70-gene signature as an aid to treatment decisions in early-stage breast cancer. N Engl J Med 2016;375:717–29.
Krop I, Ismaila N, Andre F, Bast RC, Barlow W, Collyar DE, et al. 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 Guideline Focused Update. J Clin Oncol 2017;35: 2838–2847.
Gray RJ. Weighted analyses for cohort sampling designs. Lifetime Data Anal 2009;15:24–40.
Coates AS, Winer EP, Goldhirsch A, Gelber RD, Gnant M, Piccart-Gebhart M, et al. Tailoring therapies—improving the management of early breast cancer: St Gallen International Expert Consensus on the Primary Therapy of Early Breast Cancer 2015. Ann Oncol. 2015;26:1533–46
Lih C-J, Harrington RD, Sims DJ, Harper KN, Bouk CH, Datta V, et al. Analytical validation of the next-generation sequencing assay for a nationwide signal-finding clinical trial: molecular analysis for therapy choice clinical trial. J Mol Diagn 2017;19:313–27.
Jennings LJ, Arcila ME, Corless C, Kamel-Reid S, Lubin IM, Pfeifer J, et al. Guidelines for validation of next-generation sequencing–based oncology panels: a joint consensus recommendation of the Association for Molecular Pathology and College of American Pathologists. J Mol Diagn 2017;19: 341–65.
COSMIC, Catalogue of Somatic Mutations in Cancer. Available from: cancer. sanger.ac.uk. In.
Cerami E, Gao J, Dogrusoz U, Gross BE, Sumer SO, Aksoy BA, et al. The cBio Cancer Genomics Portal: an open platform for exploring multidimensional cancer genomics data. Cancer Discov 2012;2:401–4.
Gao J, Aksoy BA, Dogrusoz U, Dresdner G, Gross B, Sumer SO, et al. Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal. Sci Signal 2013;6:pl1.
ClinVar - NCBI – NIH. Available from: https://www.ncbi.nlm.nih.gov/clinvar. In.
VarSome. Available from: https://varsome.com/.
Schildhaus H-U, Heukamp LC, Merkelbach-Bruse S, Riesner K, Schmitz K, Binot E, et al. Definition of a fluorescence in-situ hybridization score identifies high- and low-level FGFR1 amplification types in squamous cell lung cancer. Mod Pathol 2012;25:1473–80.
McShane LM, Altman DG, Sauerbrei W, Taube SE, Gion M, Clark GM. Reporting recommendations for tumor marker prognostic studies (REMARK). J Natl Cancer Inst 2005;9716:1180–4.
Ciriello G, Gatza ML, Beck AH, Wilkerson MD, Rhie SK, Pastore A, et al. Comprehensive molecular portraits of invasive lobular breast cancer. Cell 2015; 163:506–19.
Zardavas D, te Marvelde L, Milne RL, Fumagalli D, Fountzilas G, Kotoula V, et al. Tumor PIK3CA genotype and prognosis in early-stage breast cancer: a pooled analysis of individual patient data. J Clin Oncol 2018;36:981–90.
Loi S, Michiels S, Lambrechts D, Fumagalli D, Claes B, Kellokumpu-Lehtinen P-L, et al. Somatic mutation profiling and associations with prognosis and trastuzumab benefit in early breast cancer. J Natl Cancer Inst 2013;105:960–7.
Zardavas D, Phillips WA, Loi S. PIK3CA mutations in breast cancer: reconciling findings from preclinical and clinical data. Breast Cancer Res 2014;16:201–201.
Luen SJ, Asher R, Lee CK, Savas P, Kammler R, Dell’Orto P, et al. Association of somatic driver alterations with prognosis in postmenopausal, hormone receptor-positive, HER2-negative early breast cancer: a secondary analysis of the BIG 1-98 randomized clinical trial. JAMA Oncol 2018;4:1335–43.
Sabine VS, Crozier C, Brookes CL, Drake C, Piper T, van de Velde CJH, et al. Mutational analysis of PI3K/AKT signaling pathway in tamoxifen exemestane adjuvant multinational pathology study. J Clin Oncol 2014;32:2951–8.
Deming SL, Nass SJ, Dickson RB, Trock BJ. C-myc amplification in breast cancer: a meta-analysis of its occurrence and prognostic relevance. Br J Cancer 2000;83: 1688–95.
Elsheikh S, Green AR, Aleskandarany MA, Grainge M, Paish CE, Lambros MBK, et al. CCND1 amplification and cyclin D1 expression in breast cancer and their relation with proteomic subgroups and patient outcome. Breast Cancer Res Treat 2008;109:325–35.
Roy PG, Pratt N, Purdie CA, Baker L, Ashfield A, Quinlan P, et al. High CCND1 amplification identifies a group of poor prognosis women with estrogen receptor positive breast cancer. Int J Cancer 2009;127:355–60.
Metzger-Filho O, Sun Z, Viale G, Price KN, Crivellari D, Snyder RD, et al. Patterns of recurrence and outcome according to breast cancer subtypes in lymph node–negative disease: results from International Breast Cancer Study Group Trials VIII and IX. J Clin Oncol 2013;31:3083–90.
Babina IS, Turner NC. Advances and challenges in targeting FGFR signalling in cancer. Nat Rev Cancer 2017;17:318.
Andre F, Cortes J. Rationale for targeting fibroblast growth factor receptor signaling in breast cancer. Breast Cancer Res Treat 2015;150:1–8.
Perez-Garcia J, Muñoz-Couselo E, Soberino J, Racca F, Cortes J. Targeting FGFR pathway in breast cancer. Breast 2018;37:126–33.
Elbauomy Elsheikh S, Green AR, Lambros MBk, Turner NC, Grainge MJ, Powe D, et al. FGFR1 amplification in breast carcinomas: a chromogenic in situ hybridisation analysis. Breast Cancer Res 2007;9:R23.
Turner N, Pearson A, Sharpe R, Lambros M, Geyer F, Lopez-Garcia MA, et al. FGFR1 amplification drives endocrine therapy resistance and is a therapeutic target in breast cancer. Cancer Res 2010;70:2085–94.
Formisano L, Lu Y, Jansen VM, Bauer JA, Hanker AB, Sanders ME, et al. Abstract 1008: gain-of-function kinase library screen identifies FGFR1 amplification as a mechanism of resistance to antiestrogens and CDK4/6 inhibitors in ERþ breast cancer. Cancer Res 2017;77:1008.
Tomiguchi M, Yamamoto Y, Yamamoto-Ibusuki M, Goto-Yamaguchi L, Fujiki Y, Fujiwara S, et al. Fibroblast growth factor receptor-1 protein expression is associated with prognosis in estrogen receptor-positive/human epidermal growth factor receptor-2-negative primary breast cancer. Cancer Sci 2016; 107:491–8.
Bense RD, Qiu SQ, de Vries EGE, Schr€oder CP, Fehrmann RSN. Considering the biology of late recurrences in selecting patients for extended endocrine therapy in breast cancer. Cancer Treat Rev 2018;70:118–26.
Rueda OM, Sammut S-J, Seoane JA, Chin S-F, Caswell-Jin JL, Callari M, et al. Dynamics of breast-cancer relapse reveal late-recurring ER-positive genomic subgroups. Nature 2019;567:399–404.
Yamamoto M, Hosoda M, Nakano K, Jia S, Hatanaka KC, Takakuwa E, et al. p53 accumulation is a strong predictor of recurrence in estrogen receptor-positive breast cancer patients treated with aromatase inhibitors. Cancer Sci 2014;105: 81–8.
Gelsi-Boyer V, Orsetti B, Cervera N, Finetti P, Sircoulomb F, Rouge C, et al. Comprehensive profiling of 8p11-12 amplification in breast cancer. Mol Cancer Res 2005;3:655.
Yang ZQ, Streicher KL, Ray ME, Abrams J, Ethier SP. Multiple interacting oncogenes on the 8p11-p12 amplicon in human breast cancer. Cancer Res 2006; 66:11632.
Garcia MJ, Pole JCM, Chin S-F, Teschendorff A, Naderi A, Ozdag H, et al. A 1 Mb minimal amplicon at 8p11–12 in breast cancer identifies new candidate oncogenes. Oncogene 2005;24:5235.