Idylla assay and next generation sequencing: an integrated EGFR mutational testing algorithm

Luca, Caterina De; Rappa, Alessandra; Gragnano, Gianluca; Malapelle, Umberto; Troncone, Giancarlo; Barberis, Massimo

doi:10.1136/jclinpath-2018-205197

Cited by 33 publications

(29 citation statements)

References 12 publications

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“…Nevertheless, the rapid Idylla EGFR mutation test has proven to be very sensitive for the detection of EGFR hotspot mutations in FFPE tissue and cell blocks. To the best of our knowledge, only six other studies have investigated the performance of the rapid EGFR Idylla mutation test 8 16–18 24 25. In this study, we obtained an overall 94% agreement for the NSCLC cases between NGS and Idylla, which is comparable with the other recent publications.…”

Section: Discussionsupporting

confidence: 88%

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Rapid clinical mutational testing ofKRAS,BRAFandEGFR: a prospective comparative analysis of the Idylla technique with high-throughput next-generation sequencing

et al. 2019

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AimsPrecision medicine therapy is remodelling the diagnostic landscape of cancer. The success of these new therapies is often based on the presence or absence of a specific mutation in a tumour. The Idylla platform is designed to determine the mutational status of a tumour as quickly and accurately as possible, as a rapid, accurate diagnosis is of the utmost importance for the treatment of patients. This is the first complete prospective study to investigate the robustness of the Idylla platform for EGFR, KRAS and BRAF mutations in non-small cell lung cancer, metastatic colorectal cancer and metastatic melanoma, respectively.MethodsWe compared prospectively the Idylla platform with the results we obtained from parallel high-throughput next-generation sequencing, which is the current gold standard for mutational testing. Furthermore, we evaluated the benefits and disadvantages of the Idylla platform in clinical practice. Additionally, we reviewed all the published Idylla performance articles.ResultsThere was an overall agreement of 100%, 94% and 94% between the next-generation panel and the Idylla BRAF, KRAS and EGFR mutation test. Two interesting discordant findings among 48 cases were observed and will be discussed together with the advantages and shortcoming of both techniques.ConclusionOur observations demonstrate that the Idylla cartridge for the EGFR, KRAS and BRAF mutations is highly accurate, rapid and has a limited hands-on time compared with next-generation sequencing.

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Section: Discussionsupporting

confidence: 88%

“…We analysed all peer-reviewed literature on the use of the Idylla platform in all tumours in which mutational status is required for treatment of the patient (table 1). 2–25…”

Section: Introductionmentioning

confidence: 99%

Rapid clinical mutational testing ofKRAS,BRAFandEGFR: a prospective comparative analysis of the Idylla technique with high-throughput next-generation sequencing

et al. 2019

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“…Many institutions all over the world have adopted this approach to rapidly assess the most common actionable oncogenes in a wide range of human neoplasms. [10][11][12][13][14][15][16][17][18][19][20] Acute deteriorating patients can be immediately treated and predictive biomarker testing can be carried out even where equipment and expertise are not available. 26 A recently developed combined NRAS-BRAF Mutation Test has only been applied to CRC and melanoma, to inform on targeted treatment response.…”

Section: Discussionmentioning

confidence: 99%

“…9 Indeed, the single-use Idylla (Biocartis, Mechelen, Belgium) cartridge includes all reagents needed to detect the V-Raf Murine Sarcoma Viral Oncogene Homolog B1 (BRAF) p.V600E and Neuroblastoma RAS Viral (V-Ras) Oncogene Homolog (NRAS) gene mutations. [10][11][12][13][14] These are the most frequent ones harbored by thyroid neoplasms. 15 The cytopathologist should simply insert the needle rinse into the cartridge; this latter, then, is loaded into the Idylla platform and an integrated console auto-analyzes the real time polymerase chain reaction (RT-PCR) amplification curves, giving to the cytopathologist the final results on the screen as either "No mutation detected" or "BRAF or NRAS mutation detected", in less than 2 hours.…”

Section: Introductionmentioning

confidence: 99%

Rapid On‐site Molecular Evaluation in thyroid cytopathology: A same‐day cytological and molecular diagnosis

Luca

Sgariglia

Nacchio

et al. 2020

Diagnostic Cytopathology

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Background Thyroid fine‐needle aspirates (FNAs) with undetermined morphology can be outsourced to centralized laboratories for comprehensive molecular profiling. When a local, rapid screening rules out easily detectable BRAF and NRAS mutations outsourcing is minimized, leading to cost savings. The fully automated Idylla technology, that does not require trained staff, is an emerging option. However, Idylla platform has only been validated to process formalin fixed paraffin embedded (FFPE) sections. Here we investigate whether also the FNA needle rinse could be genotyped by the same cytopathologist who performs the FNA, a procedure that can be termed rapid on site molecular evaluation (ROME). Methods To validate this approach, the Idylla BRAF and NRAS Test was performed on the rinses from 25 simulated (bench‐top) FNAs, in a first part of the study. Genotyping data were compared with those obtained on matched histological FFPE blocks. The second part of the study was carried out on 25 prospectively collected routine FNAs to assess the performance of the Idylla BRAF and NRAS assay against a gold standard real time polymerase chain reaction method. Results Idylla NRAS‐BRAF Mutation Test was performed on needle rinse as well as histological FFPE blocks. A sensitivity of 88.9%, a specificity of 100.0% were obtained comparing the Idylla NRAS‐BRAF Mutation Test on needle rinse to the reference method. Conclusions The FNA needle rinse can be directly genotyped. This obviates the need of cell block preparation, making possible a rapid combined morphological and molecular evaluation. Since DNA extraction is no longer necessary, the cytopathologist can perform ROME him/herself.

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“…To perform molecular testing, we have recently developed a NGS panel (SiRe®) that covers 568 mutations in 42 amplicons (ranging from 125 to 175 bp) of genes – including EGFR , KRAS , NRAS , and BRAF – involved in the treatment choice for lung ADC [5]. As has previously been shown, our gene panel is also suitable for cytological samples [6]. Adopting this panel in our routine practice, we identified 14 BRAF -mutated cases from 294 lung cancer patients (Table 1).…”

mentioning

confidence: 99%

<b><i>BRAF</i></b> Mutations in Lung Cancer

Pisapia¹,

Pepe²,

Malapelle³

et al. 2019

Acta Cytologica

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Idylla assay and next generation sequencing: an integrated EGFR mutational testing algorithm

Cited by 33 publications

References 12 publications

Rapid clinical mutational testing ofKRAS,BRAFandEGFR: a prospective comparative analysis of the Idylla technique with high-throughput next-generation sequencing

Rapid clinical mutational testing ofKRAS,BRAFandEGFR: a prospective comparative analysis of the Idylla technique with high-throughput next-generation sequencing

Rapid On‐site Molecular Evaluation in thyroid cytopathology: A same‐day cytological and molecular diagnosis

<b><i>BRAF</i></b> Mutations in Lung Cancer

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