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International Journal of Clinical Oncology

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Open Access 26-04-2022 | Colorectal Cancer | Original Article

Performance of Idylla^™ RAS-BRAF mutation test for formalin-fixed paraffin-embedded tissues of colorectal cancer

Authors: Yusuke Makutani, Kazuko Sakai, Masahiro Yamada, Toshiaki Wada, Takaaki Chikugo, Takao Satou, Yoko Iwasa, Hidekazu Yamamoto, Marco A. de Velasco, Kazuto Nishio, Junichiro Kawamura

Published in: International Journal of Clinical Oncology | Issue 7/2022

Abstract

Background

The Biocartis Idylla^™ platform is a fully automated, real-time PCR-based diagnostic system. The Idylla^™ KRAS and NRAS-BRAF Mutation Tests have been developed for the qualitative detection of mutations in KRAS, NRAS and BRAF genes, facilitating the genomic profiling of patients with colorectal cancer. The aim of the present study was to evaluate clinical performances of these tests in Japan.

Methods

The RAS and BRAF mutation statuses of 253 formalin-fixed paraffin-embedded (FFPE) colorectal cancer tissues were analyzed using the Investigational Use Only Idylla^™ KRAS Mutation Test and the Idylla^™ NRAS-BRAF Mutation Test and an in vitro diagnostics (IVD) kit (MEBGEN RASKET^™-B kit).

Results

The success rate for obtaining a valid mutational data without retest of the Idylla tests was 97.6% (247/253): 111 KRAS mutations (43.8%), 9 NRAS mutations (3.6%), and 36 BRAF V600E mutations (14.2%) were detected using the Idylla tests. Compared with the MEBGEN RASKET-B results, the positive concordance rate was 97.4%, the negative concordance rate was 95.7%, and the overall concordance rate was 95.3% (κ = 0.919, 95% CI 0.871–0.967). The average turnaround time to Idylla^™ KRAS and NRAS-BRAF Mutation Test was 5.6 working days (range: 3–11 days).

Conclusion

This result demonstrates a high concordance between the Idylla^™ KRAS and NRAS-BRAF Mutation Tests and an existing IVD kit. In this manner, the Idylla^™ mutation tests were validated for the detection of clinically significant KRAS, NRAS, and BRAF mutations in FFPE samples from colorectal cancer patients.

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Torre LA, Bray F, Siegel RL et al (2015) Global cancer statistics. CA Cancer J Clin 65(2):87–108. https://doi.org/10.3322/caac.21262CrossRefPubMed

Zenonos K, Kyprianou K (2013) RAS signaling pathways, mutations and their role in colorectal cancer. World J Gastrointest Oncol 5(5):97–101. https://doi.org/10.4251/wjgo.v5.i5.97CrossRefPubMedPubMedCentral

Bokemeyer C, Kohne CH, Ciardiello F et al (2015) FOLFOX4 plus cetuximab treatment and RAS mutations in colorectal cancer. Eur J Cancer 51(10):1243–1252. https://doi.org/10.1016/j.ejca.2015.04.007CrossRefPubMedPubMedCentral

Douillard JY, Siena S, Cassidy J et al (2014) Final results from PRIME: randomized phase III study of panitumumab with FOLFOX4 for first-line treatment of metastatic colorectal cancer. Ann Oncol 25(7):1346–1355. https://doi.org/10.1093/annonc/mdu141CrossRefPubMed

Pietrantonio F, Petrelli F, Coinu A et al (2015) Predictive role of BRAF mutations in patients with advanced colorectal cancer receiving cetuximab and panitumumab: a meta-analysis. Eur J Cancer 51(5):587–594. https://doi.org/10.1016/j.ejca.2015.01.054CrossRefPubMed

Sakai K, Tsurutani J, Yamanaka T et al (2015) Extended RAS and BRAF mutation analysis using next-generation sequencing. PLoS ONE 10(5):e0121891. https://doi.org/10.1371/journal.pone.0121891CrossRefPubMedPubMedCentral

Rossat S, Perrier H, Lefevre M et al (2020) Drastic reduction of turnaround time after implementation of a fully automated assay for RAS-BRAF mutations in colorectal cancer: a pilot prospective study in real-life conditions. Pathol Oncol Res 26(4):2469–2473. https://doi.org/10.1007/s12253-020-00818-yCrossRefPubMed

Colling R, Wang LM, Soilleux E (2016) Automated PCR detection of BRAF mutations in colorectal adenocarcinoma: a diagnostic test accuracy study. J Clin Pathol 69(5):398–402. https://doi.org/10.1136/jclinpath-2015-203345CrossRefPubMed

de Biase D, de Luca C, Gragnano G et al (2016) Fully automated PCR detection of KRAS mutations on pancreatic endoscopic ultrasound fine-needle aspirates. J Clin Pathol. https://doi.org/10.1136/jclinpath-2016-203696CrossRefPubMed

10.

De Luca C, Gragnano G, Pisapia P et al (2017) EGFR mutation detection on lung cancer cytological specimens by the novel fully automated PCR-based Idylla EGFR Mutation Assay. J Clin Pathol 70(4):295–300. https://doi.org/10.1136/jclinpath-2016-203989CrossRefPubMed

11.

Janku F, Claes B, Huang HJ et al (2015) BRAF mutation testing with a rapid, fully integrated molecular diagnostics system. Oncotarget 6(29):26886–26894. https://doi.org/10.18632/oncotarget.4723CrossRefPubMedPubMedCentral

12.

Melchior L, Grauslund M, Bellosillo B et al (2015) Multi-center evaluation of the novel fully-automated PCR-based Idylla BRAF mutation test on formalin-fixed paraffin-embedded tissue of malignant melanoma. Exp Mol Pathol 99(3):485–491. https://doi.org/10.1016/j.yexmp.2015.09.004CrossRefPubMed

13.

Schiefer AI, Parlow L, Gabler L et al (2016) Multicenter evaluation of a novel automated rapid detection system of BRAF status in formalin-fixed, paraffin-embedded tissues. J Mol Diagn 18(3):370–377. https://doi.org/10.1016/j.jmoldx.2015.12.005CrossRefPubMed

14.

Yeo MK, Jung MK, Lee SY et al (2017) The usefulness of a novel fully automated PCR-based Idylla test for detection of the BRAF V600E mutation in thyroid tissue: comparison with PNA-clamping PCR, real-time PCR and pyrosequencing. J Clin Pathol 70(3):260–265. https://doi.org/10.1136/jclinpath-2016-204025CrossRefPubMed

15.

Taniguchi H, Okamoto W, Muro K et al (2018) Clinical validation of newly developed multiplex kit using luminex xMAP technology for detecting simultaneous RAS and BRAF mutations in colorectal cancer: results of the RASKET-B study. Neoplasia 20(12):1219–1226. https://doi.org/10.1016/j.neo.2018.10.004CrossRefPubMedPubMedCentral

16.

Yoshino T, Muro K, Yamaguchi K et al (2015) Clinical validation of a multiplex kit for RAS mutations in colorectal cancer: results of the RASKET (RAS key testing) prospective multicenter study. EBioMedicine 2(4):317–323. https://doi.org/10.1016/j.ebiom.2015.02.007CrossRefPubMedPubMedCentral

17.

Japenese society for cancer of the colon and rectum (2019) Japanese classification of colorectal, appendiceal, and anal carcinoma: the 3d English edition [secondary publication]. J Anus Rectum Colon 3(4):175–195. https://doi.org/10.23922/jarc.2019-018CrossRef

18.

Johnston L, Power M, Sloan P et al (2018) Clinical performance evaluation of the Idylla NRAS-BRAF mutation test on retrospectively collected formalin-fixed paraffin-embedded colorectal cancer tissue. J Clin Pathol 71(4):336–343. https://doi.org/10.1136/jclinpath-2017-204629CrossRefPubMed

19.

Yokota T, Ura T, Shibata N et al (2011) BRAF mutation is a powerful prognostic factor in advanced and recurrent colorectal cancer. Br J Cancer 104(5):856–862. https://doi.org/10.1038/bjc.2011.19CrossRefPubMedPubMedCentral

20.

Kawazoe A, Shitara K, Fukuoka S et al (2015) A retrospective observational study of clinicopathological features of KRAS, NRAS, BRAF and PIK3CA mutations in Japanese patients with metastatic colorectal cancer. BMC Cancer 15:258. https://doi.org/10.1186/s12885-015-1276-zCrossRefPubMedPubMedCentral

21.

Peeters M, Kafatos G, Taylor A et al (2015) Prevalence of RAS mutations and individual variation patterns among patients with metastatic colorectal cancer: a pooled analysis of randomised controlled trials. Eur J Cancer 51(13):1704–1713. https://doi.org/10.1016/j.ejca.2015.05.017CrossRefPubMed

22.

Barras D, Missiaglia E, Wirapati P et al (2017) BRAF V600E mutant colorectal cancer subtypes based on gene expression. Clin Cancer Res 23(1):104–115. https://doi.org/10.1158/1078-0432.CCR-16-0140CrossRefPubMed

23.

Davies H, Bignell GR, Cox C et al (2002) Mutations of the BRAF gene in human cancer. Nature 417(6892):949–954. https://doi.org/10.1038/nature00766CrossRefPubMed

24.

Yaeger R, Chatila WK, Lipsyc MD et al (2018) Clinical sequencing defines the genomic landscape of metastatic colorectal cancer. Cancer Cell 33(1):125–136. https://doi.org/10.1016/j.ccell.2017.12.004CrossRefPubMedPubMedCentral

25.

Kayhanian H, Goode E, Sclafani F et al (2018) Treatment and survival outcome of BRAF-mutated metastatic colorectal cancer: a retrospective matched case-control study. Clin Colorectal Cancer 17(1):e69–e76. https://doi.org/10.1016/j.clcc.2017.10.006CrossRefPubMed

26.

Haiduk T, Brockmann M, Tillmann RL et al (2021) Comparison of biocartis IDYLLA cartridge assay with Qiagen genereader NGS for detection of targetable mutations in EGFR, KRAS/NRAS, and BRAF genes. Exp Mol Pathol 120:104634. https://doi.org/10.1016/j.yexmp.2021.104634CrossRefPubMed

27.

Holm M, Andersson E, Osterlund E et al (2020) Detection of KRAS mutations in liquid biopsies from metastatic colorectal cancer patients using droplet digital PCR, Idylla, and next generation sequencing. PLoS ONE 15(11):e0239819. https://doi.org/10.1371/journal.pone.0239819CrossRefPubMedPubMedCentral

28.

Vessies DCL, Greuter MJE, van Rooijen KL et al (2020) Performance of four platforms for KRAS mutation detection in plasma cell-free DNA: ddPCR, Idylla, COBAS z480 and beaming. Sci Rep 10(1):8122. https://doi.org/10.1038/s41598-020-64822-7CrossRefPubMedPubMedCentral

Title: Performance of Idylla™ RAS-BRAF mutation test for formalin-fixed paraffin-embedded tissues of colorectal cancer
Authors: Yusuke Makutani
Kazuko Sakai
Masahiro Yamada
Toshiaki Wada
Takaaki Chikugo
Takao Satou
Yoko Iwasa
Hidekazu Yamamoto
Marco A. de Velasco
Kazuto Nishio
Junichiro Kawamura
Publication date: 26-04-2022
Publisher: Springer Nature Singapore
Keywords: Colorectal Cancer
Colorectal Cancer
Published in: International Journal of Clinical Oncology / Issue 7/2022
Print ISSN: 1341-9625
Electronic ISSN: 1437-7772
DOI: https://doi.org/10.1007/s10147-022-02167-z

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Abstract

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