A Pilot Study Analyzing the Clinical Utility of Comprehensive Genomic Profiling Using Plasma Cell-Free DNA for Solid Tumor Patients in Japan (PROFILE Study).
Journal
Annals of surgical oncology
ISSN: 1534-4681
Titre abrégé: Ann Surg Oncol
Pays: United States
ID NLM: 9420840
Informations de publication
Date de publication:
Dec 2021
Dec 2021
Historique:
received:
12
10
2020
accepted:
29
01
2021
pubmed:
30
3
2021
medline:
18
11
2021
entrez:
29
3
2021
Statut:
ppublish
Résumé
The clinical utility of plasma cell-free DNA in precision cancer medicine has not been established. A pilot study was conducted to investigate the clinical utility of comprehensive genomic profiling by liquid biopsy in a Japanese population. In this PROFILE study, 102 patients with advanced solid tumors who showed progression with standard systemic therapy underwent liquid biopsy between August 2017 and February 2020. Liquid biopsy was performed using Guardant360. Of the 102 patients, 56 were women, and the median age was 65 years. Regarding the types of cancer, 31 were hepatobiliary and pancreatic cancer, 17 were gastrointestinal cancer, and 13 were breast cancer. Frequently altered genes were TP53 (53.9%, 46/102), KRAS (25.5%, 26/102), PIK3CA (19.6%, 20/102), and EGFR (17.6%, 18/102). At least one genetic aberration was detected in 92 patients (90.2%). Actionable mutation was discovered in 88 patients (86.3%), and 67 patients (65.7%) were clinical trial candidates. Of the 102 patients, 22 (21.6%) were able to receive biomarker-matched therapy. Their best responses were as follows: 1 complete response, 3 partial responses, 7 stable diseases, and 11 progressive diseases. Additionally, the treated patients were divided on the basis of matching scores (≥ 50% vs. < 50%). The patients were divided into high and low groups. The high group had a higher disease control rate (DCR) of 75% compared with 20% in the low group (P = 0.010). The results indicate that liquid biopsy is useful for identifying actionable mutations associated with the clinical response of selected patients.
Sections du résumé
BACKGROUND
BACKGROUND
The clinical utility of plasma cell-free DNA in precision cancer medicine has not been established. A pilot study was conducted to investigate the clinical utility of comprehensive genomic profiling by liquid biopsy in a Japanese population.
METHODS
METHODS
In this PROFILE study, 102 patients with advanced solid tumors who showed progression with standard systemic therapy underwent liquid biopsy between August 2017 and February 2020. Liquid biopsy was performed using Guardant360.
RESULTS
RESULTS
Of the 102 patients, 56 were women, and the median age was 65 years. Regarding the types of cancer, 31 were hepatobiliary and pancreatic cancer, 17 were gastrointestinal cancer, and 13 were breast cancer. Frequently altered genes were TP53 (53.9%, 46/102), KRAS (25.5%, 26/102), PIK3CA (19.6%, 20/102), and EGFR (17.6%, 18/102). At least one genetic aberration was detected in 92 patients (90.2%). Actionable mutation was discovered in 88 patients (86.3%), and 67 patients (65.7%) were clinical trial candidates. Of the 102 patients, 22 (21.6%) were able to receive biomarker-matched therapy. Their best responses were as follows: 1 complete response, 3 partial responses, 7 stable diseases, and 11 progressive diseases. Additionally, the treated patients were divided on the basis of matching scores (≥ 50% vs. < 50%). The patients were divided into high and low groups. The high group had a higher disease control rate (DCR) of 75% compared with 20% in the low group (P = 0.010).
CONCLUSIONS
CONCLUSIONS
The results indicate that liquid biopsy is useful for identifying actionable mutations associated with the clinical response of selected patients.
Identifiants
pubmed: 33778906
doi: 10.1245/s10434-021-09856-5
pii: 10.1245/s10434-021-09856-5
doi:
Substances chimiques
Biomarkers, Tumor
0
Cell-Free Nucleic Acids
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
8497-8505Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2021. Society of Surgical Oncology.
Références
Tsimberidou AM, Wen S, Hong DS, Wheler JJ, Falchook GS, Fu S, et al. Personalized medicine for patients with advanced cancer in the phase I program at MD Anderson: validation and landmark analyses. Clin Cancer Res. 2014;20:4827–36.
doi: 10.1158/1078-0432.CCR-14-0603
Schwaederle M, Parker BA, Schwab RB, Daniels GA, Piccioni DE, Kesari S, et al. Precision oncology: the UC San Diego Moores Cancer Center PREDICT experience. Mol Cancer Ther. 2016;15:743–52.
doi: 10.1158/1535-7163.MCT-15-0795
O’Bryant CL, Wenger SD, Kim M, Thompson LA. Crizotinib: a new treatment option for ALK-positive non-small cell lung cancer. Ann Pharmacother. 2013;47:189–97.
doi: 10.1345/aph.1R002
Paez JG, Jänne PA, Lee JC, Tracy S, Greulich H, Gabriel S, et al. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science. 2004;304:1497–500.
doi: 10.1126/science.1099314
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.
doi: 10.1371/journal.pone.0140712
Schwaederle M, Husain H, Fanta PT, Piccioni DE, Kesari S, Schwab RB, et al. Use of liquid biopsies in clinical oncology: pilot experience in 168 patients. Clin Cancer Res. 2016;22:5497–505.
doi: 10.1158/1078-0432.CCR-16-0318
Rolfo C, Cardona AF, Cristofanilli M, Paz-Ares L, Diaz Mochon JJ, Duran I, et al. Challenges and opportunities of cfDNA analysis implementation in clinical practice: perspective of the International Society of Liquid Biopsy (ISLB). Crit Rev Oncol Hematol. 2020;151:102978.
doi: 10.1016/j.critrevonc.2020.102978
Sicklick JK, Kato S, Okamura R, Schwaederle M, Hahn ME, Williams CB, et al. Molecular profiling of cancer patients enables personalized combination therapy: the I-PREDICT study. Nat Med. 2019;25:744–50.
doi: 10.1038/s41591-019-0407-5
Ikeda S, Tsigelny IF, Skjevik Å, Kono Y, Mendler M, Kuo A, et al. Next-generation sequencing of circulating tumor DNA reveals frequent alterations in advanced hepatocellular carcinoma. Oncologist. 2018;23:586–93.
doi: 10.1634/theoncologist.2017-0479
Schwaederle M, Parker BA, Schwab RB, Fanta PT, Boles SG, Daniels GA, et al. Molecular tumor board: the University of California-San Diego Moores Cancer Center experience. Oncologist. 2014;19:631–6.
doi: 10.1634/theoncologist.2013-0405
Shlush LI. Age-related clonal hematopoiesis. Blood. 2018;131:496–504.
doi: 10.1182/blood-2017-07-746453
Razavi P, Li BT, Brown DN, Jung B, Hubbell E, Shen R, et al. High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants. Nat Med. 2019;25:1928–37.
doi: 10.1038/s41591-019-0652-7
Zehir A, Benayed R, Shah RH, Syed A, Middha S, Kim HR, et al. Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. Nat Med. 2017;23:703–13.
doi: 10.1038/nm.4333
Sunami K, Ichikawa H, Kubo T, Kato M, Fujiwara Y, Shimomura A, et al. Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: a hospital-based study. Cancer Sci. 2019;110:1480–90.
doi: 10.1111/cas.13969
Bieg-Bourne CC, Millis SZ, Piccioni DE, Fanta PT, Goldberg ME, Chmielecki J, et al. Next-generation sequencing in the clinical setting clarifies patient characteristics and potential actionability. Cancer Res. 2017;77:6313–20.
doi: 10.1158/0008-5472.CAN-17-1569
Nakamura Y, Taniguchi H, Ikeda M, Bando H, Kato K, Morizane C, et al. Clinical utility of circulating tumor DNA sequencing in advanced gastrointestinal cancer: SCRUM-Japan GI-SCREEN and GOZILA studies. Nat Med. 2020;26:1859–64.
doi: 10.1038/s41591-020-1063-5
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.
doi: 10.1158/1078-0432.CCR-19-0624
Consortium ITP-CAoWG. Pan-cancer analysis of whole genomes. Nature. 2020;578:82–93.
doi: 10.1038/s41586-020-1969-6
Wan JCM, Massie C, Garcia-Corbacho J, Mouliere F, Brenton JD, Caldas C, et al. Liquid biopsies come of age: towards implementation of circulating tumour DNA. Nat Rev Cancer. 2017;17:223–38.
doi: 10.1038/nrc.2017.7
Chaudhuri AA, Chabon JJ, Lovejoy AF, Newman AM, Stehr H, Azad TD, et al. Early detection of molecular residual disease in localized lung cancer by circulating tumor DNA profiling. Cancer Discov. 2017;7:1394–403.
doi: 10.1158/2159-8290.CD-17-0716
Garcia-Murillas I, Schiavon G, Weigelt B, Ng C, Hrebien S, Cutts RJ, et al. Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer. Sci Transl Med. 2015;7:302ra133.
doi: 10.1126/scitranslmed.aab0021
Lee B, Lipton L, Cohen J, Tie J, Javed AA, Li L, et al. Circulating tumor DNA as a potential marker of adjuvant chemotherapy benefit following surgery for localized pancreatic cancer. Ann Oncol. 2019;30:1472–8.
doi: 10.1093/annonc/mdz200
Reinert T, Henriksen TV, Christensen E, Sharma S, Salari R, Sethi H, et al. Analysis of plasma cell-free DNA by ultradeep sequencing in patients with stages I to III colorectal cancer. JAMA Oncol. 2019;5:1124–31.
doi: 10.1001/jamaoncol.2019.0528
Tie J, Wang Y, Tomasetti C, Li L, Springer S, Kinde I, et al. Circulating tumor DNA analysis detects minimal residual disease and predicts recurrence in patients with stage II colon cancer. Sci Transl Med. 2016;8:346.
doi: 10.1126/scitranslmed.aaf6219
Parikh AR, Leshchiner I, Elagina L, Goyal L, Levovitz C, Siravegna G, et al. Liquid versus tissue biopsy for detecting acquired resistance and tumor heterogeneity in gastrointestinal cancers. Nat Med. 2019;25:1415–21.
doi: 10.1038/s41591-019-0561-9
Khagi Y, Goodman AM, Daniels GA, Patel SP, Sacco AG, Randall JM, et al. Hypermutated circulating tumor DNA: correlation with response to checkpoint inhibitor–based immunotherapy. Clin Cancer Res 2017;23:5729–36.
doi: 10.1158/1078-0432.CCR-17-1439