Tumor Tissue- versus Plasma-based Genotyping for Selection of Matched Therapy and Impact on Clinical Outcomes in Patients with Metastatic Breast Cancer.
Journal
Clinical cancer research : an official journal of the American Association for Cancer Research
ISSN: 1557-3265
Titre abrégé: Clin Cancer Res
Pays: United States
ID NLM: 9502500
Informations de publication
Date de publication:
15 06 2021
15 06 2021
Historique:
received:
01
09
2020
revised:
08
11
2020
accepted:
22
01
2021
pubmed:
29
1
2021
medline:
8
4
2022
entrez:
28
1
2021
Statut:
ppublish
Résumé
Actionable mutations can guide genotype-directed matched therapy. We evaluated the utility of tissue-based and plasma-based genotyping for the identification of actionable mutations and selection of matched therapy in patients with metastatic breast cancer (MBC). Patients with MBC who underwent tissue genotyping (institutional platform, 91-gene assay) or plasma-based cell-free DNA (cfDNA, Guardant360, 73-gene assay) between January 2016 and December 2017 were included. A chart review of records to identify subtype, demographics, treatment, outcomes, and tissue genotyping or cfDNA results was performed. The incidence of actionable mutations and the selection of matched therapy in tissue genotyping or cfDNA cohorts was determined. The impact of matched therapy status on overall survival (OS) in tissue genotyping or cfDNA subgroups was determined with Cox regression analysis. Of 252 patients who underwent cfDNA testing, 232 (92%) had detectable mutations, 196 (78%) had actionable mutations, and 86 (34%) received matched therapy. Of 118 patients who underwent tissue genotyping, 90 (76%) had detectable mutations, 59 (50%) had actionable mutations, and 13 (11%) received matched therapy. For cfDNA patients with actionable mutations, matched versus nonmatched therapy was associated with better OS [HR 0.41, 95% confidence interval (CI): 0.23-0.73, Plasma-based genotyping identified high rates of actionable mutations, which was associated with significant application of matched therapy and better OS in patients with MBC.
Identifiants
pubmed: 33504549
pii: 1078-0432.CCR-20-3444
doi: 10.1158/1078-0432.CCR-20-3444
doi:
Substances chimiques
Cell-Free Nucleic Acids
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
3404-3413Commentaires et corrections
Type : CommentIn
Informations de copyright
©2021 American Association for Cancer Research.
Références
Lehmann BD, Bauer JA, Chen X, Sanders ME, Chakravarthy AB, Shyr Y, et al. Identification of human triple-negative breast cancer subtypes and preclinical models for selection of targeted therapies. The Journal of clinical investigation. 2011;121:2750–67.
Burstein MD, Tsimelzon A, Poage GM, Covington KR, Contreras A, Fuqua SA, et al. Comprehensive genomic analysis identifies novel subtypes and targets of triple-negative breast cancer. Clin Cancer Res. 2015;21:1688–98.
Bertucci F, Ng CKY, Patsouris A, Droin N, Piscuoglio S, Carbuccia N, et al. Genomic characterization of metastatic breast cancers. Nature. 2019;569:560–4.
Oza AM, Tinker AV, Oaknin A, Shapira-Frommer R, McNeish IA, Swisher EM, et al. Antitumor activity and safety of the PARP inhibitor rucaparib in patients with high-grade ovarian carcinoma and a germline or somatic BRCA1 or BRCA2 mutation: Integrated analysis of data from Study 10 and ARIEL2. Gynecol Oncol. 2017;147:267–75.
Andre F, Ciruelos E, Rubovszky G, Campone M, Loibl S, Rugo HS, et al. Alpelisib for PIK3CA-mutated, hormone receptor-positive advanced breast cancer. N Engl J Med. 2019;380:1929–40.
Rodon J, Soria JC, Berger R, Miller WH, Rubin E, Kugel A, et al. Genomic and transcriptomic profiling expands precision cancer medicine: the WINTHER trial. Nat Med. 2019;25:751–8.
Zheng Z, Liebers M, Zhelyazkova B, Cao Y, Panditi D, Lynch KD, et al. Anchored multiplex PCR for targeted next-generation sequencing. Nat Med. 2014;20:1479–84.
Haber DA, Velculescu VE. Blood-based analyses of cancer: circulating tumor cells and circulating tumor DNA. Cancer Discov. 2014;4:650–61.
Aggarwal C, Thompson JC, Black TA, Katz SI, Fan R, Yee SS, et al. Clinical implications of plasma-based genotyping with the delivery of personalized therapy in metastatic non-small cell lung cancer. JAMA Oncol. 2019;5:173–80.
Lanman RB, Mortimer SA, Zill OA, Sebisanovic D, Lopez R, Blau S, et al. Analytical and clinical validation of a digital sequencing panel for quantitative, highly accurate evaluation of cell-free circulating tumor DNA. PLoS One. 2015;10:e0140712.
Leighl NB, Page RD, Raymond VM, Daniel DB, Divers SG, Reckamp KL, et al. Clinical utility of comprehensive cell-free DNA analysis to identify genomic biomarkers in patients with newly diagnosed metastatic non-small cell lung cancer. Clin Cancer Res. 2019;25:4691–700.
Gagan J, Van Allen EM. Next-generation sequencing to guide cancer therapy. Genome Med. 2015;7:80.
Diaz LA Jr, Bardelli A. Liquid biopsies: genotyping circulating tumor DNA. J Clin Oncol. 2014;32:579–86.
Odegaard JI, Vincent JJ, Mortimer S, Vowles JV, Ulrich BC, Banks KC, et al. Validation of a plasma-based comprehensive cancer genotyping assay utilizing orthogonal tissue- and plasma-based methodologies. Clin Cancer Res. 2018;24:3539–49.
Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, et al. Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the association for molecular pathology, american society of clinical oncology, and college of american pathologists. J Mol Diagn. 2017;19:4–23.
.
Malvarosa G, Spring L, Juric D, Moy B, Bardia A. Comparison of genotyping results from tissue and circulating DNA (ctDNA) in patients with metastatic breast cancer [abstract]. Proceedings of the 2016 San Antonio Breast Cancer Symposium; 2016 Dec 6–10; San Antonio, TX.
Goncalves A, Bachelot T, Lusque A, Arnedos M, Campone M, Bieche I, et al. High-throughput genome analysis and therapeutic decision for patients with HER2-negative metastatic breast cancer: first feasibility and molecular results of the randomized phase II study SAFIR02 BREAST (UCBG-0105/1304) [abstract]. Proceedings of the 2016 San Antonio Breast Cancer Symposium; 2016 Dec 6–10; San Antonio, TX.
Finn RS, Liu Y, Zhu Z, Martin M, Rugo HS, Dieras V, et al. Biomarker analyses of response to cyclin-dependent kinase 4/6 inhibition and endocrine therapy in women with treatment-naive metastatic breast cancer. Clin Cancer Res. 2020;26:110–21.
Johnson DB, Dahlman KH, Knol J, Gilbert J, Puzanov I, Means-Powell J, et al. Enabling a genetically informed approach to cancer medicine: a retrospective evaluation of the impact of comprehensive tumor profiling using a targeted next-generation sequencing panel. Oncologist. 2014;19:616–22.
Meric-Bernstam F, Brusco L, Shaw K, Horombe C, Kopetz S, Davies MA, et al. Feasibility of large-scale genomic testing to facilitate enrollment onto genomically matched clinical trials. J Clin Oncol. 2015;33:2753–62.
TAPUR: Testing the use of Food and Drug Administration (FDA) approved drugs that target a specific abnormality in a tumor gene in people with advanced stage cancer (TAPUR).
Turner N, Kingston B, Kilburn L, Kernaghan S, Wardley AM, Macpherson I, et al. Results from the plasmaMATCH trial: a multiple parallel cohort, multi-centre clinical trial of circulating tumor DNA testing to direct targeted therapies in patients with advanced breast cancer (CRUK/15/010) [abstract]. Proceedings of the 2019 San Antonio Breast Cancer Symposium; 2019 Dec 10–14; San Antonio, TX.
Freedman AN, Klabunde CN, Wiant K, Enewold L, Gray SW, Filipski KK, et al. Use of next-generation sequencing tests to guide cancer treatment: results from a nationally representative survey of oncologists in the United States. JCO Precision Oncology. 2018.
Andre F, Bacehlot T, Commo F, Campone M, Arnedos M, Dieras V, et al. Comparative genomic hybridisation array and DNA sequencing to direct treatment of metastatic breast cancer: a multicenre, prospective trial (SAFIR01/UNICANCER). Lancet Oncol. 2014;15:267–74.