^
Contact us  to learn more about
our Premium Content:  News alerts, weekly reports and conference planners
BIOMARKER:

EGFR exon 18 mutation

i
Entrez ID:
1m
Therapeutic strategies to overcome ALK-fusion and BRAF-mutation as acquired resistance mechanism in EGFR-mutated non-small cell lung cancer: two case reports. (PubMed, Front Oncol)
As it is well-known that ALK-fusion and BRAF-mutations are described forms of acquired resistance. These two case reports contribute to the previous reports that ALK-fusion and BRAF-mutation are potential underlying mechanisms of EGFR-TKI resistance.
Preclinical • Journal
|
EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase)
|
EGFR mutation • BRAF mutation • ALK fusion • ALK mutation • EGFR exon 18 mutation
1m
Cytotoxicity and inhibitory potential of CUDC-101 in non-small cell lung cancer cells with rare EGFR L861Q mutation. (PubMed, Curr Res Toxicol)
In this study, the four cell lines containing the L861Q mutation were constructed by CRISPR and the anti-tumour effects of CUDC-101 on them were investigated in vitro by various chemosensitivity methods, with afatinib serving as a positive control. The results demonstrated that CUDC-101 inhibited the proliferation and clonogenic capacity on the four cells through the ERK or AKT pathways, decreased the mitochondrial membrane potential of the cells, blocked the cell cycle and promoted apoptosis. Our findings suggest that CUDC-101 may be a promising treatment option for NSCLC patients with the EGFR exon 18 substitution mutation L861Q.
Journal
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR L861Q • EGFR exon 18 mutation
|
Gilotrif (afatinib) • CUDC-101
3ms
A novel role for WZ3146 in the inhibition of cell proliferation via ERK and AKT pathway in the rare EGFR G719X mutant cells. (PubMed, Sci Rep)
Studies have shown that afatinib is beneficial for NSCLC patients with rare EGFR mutations...The results showed that WZ3146 induced cytotoxic effects, inhibited growth vitality and proliferation via ERK and AKT pathway in the EGFR G719X mutant cells. Our findings suggest that WZ3146 may be a promising treatment option for NSCLC patients with the EGFR exon 18 substitution mutation G719X.
Journal
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR G719X • EGFR G719A • EGFR G719S • EGFR exon 18 mutation • EGFR G719C
|
Gilotrif (afatinib)
7ms
From Rarity to Reality: Osimertinib's Promising Horizon in Treating Uncommon EGFR Mutations in Non-Small Cell Lung Cancer. (PubMed, Clin Cancer Res)
While afatinib, a second-generation EGFR-TKI, has received FDA approval for patients with these uncommon EGFR mutations, the approval was based on a post-hoc analysis of randomized clinical trials. By synthesizing these findings, we aim to guide oncologists towards more informed decisions in employing TKIs for NSCLC with uncommon EGFR mutations other than exon 20 insertion. Additionally, we explore potential treatment strategies tailored to these patient populations to address the challenges posed by these mutations.
Clinical • Journal
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR exon 20 insertion • EGFR L861Q • EGFR G719X • EGFR S768I • EGFR exon 20 mutation • EGFR exon 18 mutation
|
Tagrisso (osimertinib) • Gilotrif (afatinib)
8ms
Efficacy of targeted therapy in patients with non-small cell lung cancer harboring very rare mutations in EGFR exon 18. (PubMed, Transl Lung Cancer Res)
EGFR-TKIs showed great efficacy in terms of responses and survival in patients harboring exon 18 EGFR rare mutations. This may justify the use of targeted therapies as a potential treatment strategy for these patients.
Journal
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR G719X • EGFR exon 18 mutation • EGFR G724S
8ms
FIOL: First-line Treatment With Osimertinib in EGFR-mutated Non-small Cell Lung Cancer (clinicaltrials.gov)
P2, N=100, Active, not recruiting, Vestre Viken Hospital Trust | Trial completion date: Aug 2023 --> Dec 2025 | Trial primary completion date: Aug 2023 --> Jun 2025
Trial completion date • Trial primary completion date
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR exon 20 insertion • EGFR exon 18 mutation
|
Tagrisso (osimertinib)
8ms
Phase II Study of Osimertinib in Patients With Epidermal Growth Factor Receptor Mutations: Results From the NCI-MATCH ECOG-ACRIN (EAY131) Trial Subprotocol E. (PubMed, JCO Precis Oncol)
In this pretreated cohort, osimertinib did not meet the prespecified end point threshold for efficacy, but responses were seen in a neuroendocrine carcinoma with an EGFR exon 20 S768T and exon 18 G719C mutation and an epithelial carcinoma with an EGFR D770_N771insSVD mutation. Osimertinib was well tolerated and had a safety profile consistent with previous studies.
P2 data • Journal
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR T790M • EGFR exon 20 insertion • EGFR exon 20 mutation • EGFR exon 18 mutation • EGFR G719C • EGFR D770_N771insSVD
|
Tagrisso (osimertinib)
9ms
Uncommon and Rare EGFR Mutations in Non-Small Cell Lung Cancer Patients with a Focus on Exon 20 Insertions and the Phase 3 PAPILLON Trial: The State of the Art. (PubMed, Cancers (Basel))
Consequently, their detection allows for the selection of emerging treatment options to significantly improve patients' outcomes in these particular subgroups of EGFR-mutated advanced non-small cell lung cancer (NSCLC). Specifically, this commentary is focused on the notable progress of the Phase 3 PAPILLON study that showed primary efficacy results from amivantamab, a bispecific antibody with specific binding and affinity to extracellular domains of EGFR and MET, plus chemotherapy in the first-line setting for EGFR exon 20 insertion-mutated advanced or metastatic NSCLC patients, as compared with chemotherapy alone, thus becoming the new standard of care in this group of patients.
P3 data • Journal
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR exon 20 insertion • EGFR S768I • EGFR exon 20 mutation • EGFR exon 18 mutation • EGFR L861X
|
Rybrevant (amivantamab-vmjw)
9ms
EGFR exon 18 delE709_T710insD mutated stage IV non-small cell lung cancer treated with osimertinib: a case report. (PubMed, Anticancer Drugs)
This specific mutation in exon 18 seems to respond to certain EGFR TKIs such as afatinib. However, given the rarity of this mutation, determining the most effective TKI for its treatment remains unclear. We report a 70-year-old woman diagnosed with stage IV-A lung adenocarcinoma harboring EGFR delE709_T710insD mutation treated in first-line with Osimertinib using standard schedule and doses experiencing renal toxicity and disease progression after 9 weeks of treatment.
Journal • Metastases
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR L858R • EGFR exon 19 deletion • EGFR exon 18 mutation • EGFR E709_T710delinsD • EGFR delE709_T710insD
|
Tagrisso (osimertinib) • Gilotrif (afatinib)
10ms
SUMMIT: Basket Study of Neratinib in Participants With Solid Tumors Harboring Somatic HER2 or EGFR Exon 18 Mutations (clinicaltrials.gov)
P2, N=582, Terminated, Puma Biotechnology, Inc. | Completed --> Terminated; The study was terminated to align with the sponsor's current development plans for neratinib. The decision was not based on any new efficacy or safety data for neratinib.
Trial termination • Pan tumor
|
EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2)
|
EGFR mutation • HER-2 negative • HER-2 mutation • EGFR exon 18 mutation
|
Herceptin (trastuzumab) • paclitaxel • Nerlynx (neratinib) • fulvestrant
10ms
Afatinib treatment of severe respiratory failure due to malignant lymphangitis in a dialysis patient with squamous cell carcinoma of the lung. (PubMed, BMJ Case Rep)
He received 30 mg/day of afatinib, resulting in tumour shrinkage and recovery from respiratory failure. We advocate for aggressive screening of driver oncogenes in patients with lung cancer on dialysis, including those with squamous cell lung cancer.
Journal
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR exon 18 mutation
|
Gilotrif (afatinib)
10ms
LUN 17-139: Phase II Randomized Trial of Carboplatin+Pemetrexed+Bevacizumab+/- Atezolizumab in Stage IV NSCLC (clinicaltrials.gov)
P2, N=117, Recruiting, Fox Chase Cancer Center | Trial completion date: Jan 2026 --> Jan 2027 | Trial primary completion date: Jan 2024 --> Jan 2025
Trial completion date • Trial primary completion date • Metastases
|
PD-L1 (Programmed death ligand 1) • ALK (Anaplastic lymphoma kinase) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS)
|
EGFR mutation • ALK rearrangement • EGFR exon 21 mutation • ROS1 rearrangement • EGFR exon 18 mutation
|
Avastin (bevacizumab) • Tecentriq (atezolizumab) • carboplatin • pemetrexed
11ms
Current management of uncommon EGFR mutations in non-small cell lung cancer. (PubMed, Curr Probl Cancer)
It is crucial to understand these distinct variants and their specific responses to active treatment options to optimize care. In this review, we discuss these uncommon mutations in depth and dissect the current literature regarding their treatment outcomes and subsequent evidence-based management guidelines.
Journal
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR L858R • EGFR L861Q • EGFR G719X • EGFR S768I • EGFR exon 18 mutation
11ms
Simulation analysis of EGFR mutation detection: Oncomine Dx target test and AmoyDx panel impact on lung cancer treatment decisions. (PubMed, Sci Rep)
These findings suggest that while both CDx tests are effective in detecting almost all actionable EGFR mutations, ODxTT provides slightly broader coverage. These results emphasize the importance of selecting appropriate CDx tests to inform treatment decisions for EGFR-positive NSCLC patients.
Journal
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR positive • EGFR exon 18 mutation
|
Oncomine™ Dx Target Test • AmoyDx® Pan Lung Cancer PCR Panel
12ms
Brief Report: circRUNX1 as Potential Biomarker for Cancer Recurrence in EGFR Mutation-Positive Surgically Resected NSCLC. (PubMed, JTO Clin Res Rep)
As recently evidenced by the ADAURA trial, most patients with stages IB to IIIA of resected EGFR-mutant lung adenocarcinoma benefit from osimertinib as adjuvant therapy...Our findings suggest that circRUNX1 and the presented ML-developed signature could be novel tools to predict the benefit of adjuvant EGFR tyrosine kinase inhibitors with regard to RFS in patients with EGFR-mutant NSCLC. The training and validation phases of our ML signature will be conducted including bigger independent cohorts.
Journal
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR exon 21 mutation • EGFR positive • EGFR exon 18 mutation
|
Tagrisso (osimertinib)
1year
RC108 Combine With Furmonertinib With/Without Toripalimab in Patients With EGFR-mutated NSCLC (clinicaltrials.gov)
P1/2, N=106, Recruiting, RemeGen Co., Ltd. | Not yet recruiting --> Recruiting
Enrollment open
|
PD-L1 (Programmed death ligand 1)
|
PD-L1 expression • EGFR mutation • EGFR L858R • EGFR exon 19 deletion • EGFR T790M • EGFR G719X • EGFR S768I • MET expression • EGFR exon 18 mutation
|
Loqtorzi (toripalimab-tpzi) • Ivesa (firmonertinib) • RC108
1year
A Rare Case of Lung Adenocarcinoma with EGFR L833V/H835L Co-mutation and Literature Review (PubMed, Zhongguo Fei Ai Za Zhi)
In this article, we reported a case of NSCLC patient with a rare gene compound mutation EGFR L833V/H835L, who responded to Afatinib in combination with Anilotinib treatment well after 5 months of treatment, and computed tomography (CT) showed shrinkage of lung lesions. Meanwhile, we also compiled previously reported NSCLC patients with EGFR L833V/H835L rare gene compound mutation and summarized the characteristics of this group of patients and the effect of applying different kinds of EGFR-TKIs treatment..
Review • Journal
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR L858R • EGFR exon 18 mutation • EGFR L833V + EGFR H835L • EGFR H835L • EGFR L833V
|
Gilotrif (afatinib)
1year
FLOWER: First Line Osimertinib in the Real World: an Inter-regional Prospective Study (clinicaltrials.gov)
P=N/A, N=200, Completed, Istituto Oncologico Veneto IRCCS | Active, not recruiting --> Completed | Trial completion date: Dec 2022 --> May 2023
Trial completion • Trial completion date • Real-world evidence • Real-world
|
EGFR mutation • EGFR exon 18 mutation
|
Tagrisso (osimertinib)
1year
EGFR exon20 insertion mutations in non-small cell lung cancer: Clinical implications and recent advances in targeted therapies. (PubMed, Cancer Treat Rev)
In this review, we describe the structural, molecular characteristics, and detection strategies of EGFR ex20ins mutations and summarize the latest clinical data on approved treatments and emerging therapies for patients with NSCLC harboring EGFR ex20ins mutations. Further, we will discuss the response heterogeneity of ex20ins mutations to new drugs and acquired drug resistance mechanisms.
Review • Journal • EGFR exon 20
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR L858R • EGFR exon 20 insertion • EGFR exon 20 mutation • EGFR exon 18 mutation
|
Rybrevant (amivantamab-vmjw) • Exkivity (mobocertinib)
1year
Molecular epidemiology and clinical characteristics of epidermal growth factor receptor mutations in NSCLC: A single-center experience from India. (PubMed, J Cancer Res Ther)
EGFR mutated individuals had significantly longer median overall survival compared to EGFR wild type (26 months vs. 12 months, P = 0.044). We reports the highest number of EGFR mutation analysis performed from India and mutational analysis indicated a loco-regional variation in India with regard to EGFR mutation frequency and its subtypes.
Journal
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR T790M • EGFR wild-type • EGFR G719X • EGFR positive • EGFR exon 18 mutation
1year
This contribution has been withdrawn. (DGHO 2023)
Recent trials explore drugs like bemcentinib, everolimus, talazoparib, and others for potential approaches to targeting these mutations. Therapeutically relevant gene alterations were detected in the analyzed real-world patient cohort. The loss of STK11 or KEAP1 should be interpreted in the context of KRAS mutational and could be a clinical biomarker for poor response to targeted therapy in patients with advanced NSCLC. The data highlight that in addition to established biomarkers such as PD-L1, new potential marker of resistance such as STK11 or KEAP1 should be considered in molecular analysis prior to therapy initiation.
PD(L)-1 Biomarker • PARP Biomarker • IO biomarker
|
EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • MET (MET proto-oncogene, receptor tyrosine kinase) • STK11 (Serine/threonine kinase 11) • KEAP1 (Kelch Like ECH Associated Protein 1) • CDK7 (Cyclin Dependent Kinase 7)
|
BRAF V600E • KRAS mutation • EGFR mutation • HER-2 amplification • BRAF V600 • HER-2 mutation • EGFR exon 20 insertion • MET exon 14 mutation • STK11 mutation • KRAS wild-type • ALK fusion • EGFR exon 21 mutation • KEAP1 mutation • RAS wild-type • ROS1 fusion • EGFR exon 20 mutation • EGFR exon 18 mutation
|
FoundationOne® CDx
|
everolimus • Talzenna (talazoparib) • bemcentinib (BGB324)
over1year
New P2 trial • Metastases
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR exon 20 insertion • EGFR L861Q • EGFR G719X • EGFR S768I • EGFR exon 18 mutation
|
Nerlynx (neratinib)
over1year
Enrollment open • Trial initiation date • Combination therapy
|
STK11 (Serine/threonine kinase 11)
|
EGFR mutation • EGFR L858R • EGFR exon 19 deletion • EGFR exon 20 insertion • EGFR exon 20 mutation • EGFR exon 18 mutation
|
Libtayo (cemiplimab-rwlc) • Kevzara (sarilumab)
over1year
Trial initiation date • Combination therapy
|
STK11 (Serine/threonine kinase 11)
|
EGFR mutation • EGFR L858R • EGFR exon 19 deletion • EGFR exon 20 insertion • EGFR exon 20 mutation • EGFR exon 18 mutation
|
Libtayo (cemiplimab-rwlc) • Kevzara (sarilumab)
over1year
Impact of concomitant KRAS/STK11 or KRAS/KEAP1 mutations on response to immune checkpoint inhibition in NSCLC: A real-world data analysis (ESMO 2023)
The data indicate that STK11 or KEAP1 mutations should be interpreted in the context of KRAS mutations and could serve as a clinical biomarker for poor response to immunotherapy in patients with lung adenocarcinomas. In addition, the data highlight the benefit of panel sequencing that includes the STK11 and KEAP1.
Checkpoint inhibition • Real-world evidence • Clinical • IO biomarker • Real-world
|
EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • MET (MET proto-oncogene, receptor tyrosine kinase) • STK11 (Serine/threonine kinase 11) • KEAP1 (Kelch Like ECH Associated Protein 1)
|
BRAF V600E • KRAS mutation • EGFR mutation • BRAF V600 • EGFR exon 20 insertion • MET exon 14 mutation • STK11 mutation • KRAS wild-type • ALK fusion • ALK mutation • KEAP1 mutation • ROS1 fusion • EGFR exon 20 mutation • EGFR exon 18 mutation
|
FoundationOne® CDx
over1year
ORIGEN: Multicenter study on the prevalence of EGFR gene mutations in patients with early-stage resectable non-small cell lung cancer in Spain (ESMO 2023)
Table: 1278P Common EGFR mutations according to tumor stage Conclusions In this series of pts operated on for NSCLC, frequency of EGFR mutation was 15%, the most frequent being exon 19 deletions and the L858R mutation, in line with data reported in Spain in advanced NSCLC. These results reinforce the importance of performing EGFRm testing in early-stage NSCLC to identify pt candidates to adjuvant osimertinib.
Clinical
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR L858R • EGFR exon 19 deletion • EGFR exon 18 mutation
|
Idylla™ EGFR Mutation Test
|
Tagrisso (osimertinib)
over1year
Liquid Biopsy Reduce Time to Treatment for Patients with EGFR mutated Advanced Nonsquamous Non-small Cell Lung Cancer : A Mexican Unit Experience (IASLC-WCLC 2023)
In summary, liquid biopsy is a valuable tool for diagnosing and monitoring EGFR-mutated advanced nonsquamous NSCLC, enabling patients to receive timely and effective treatment. This approach has the potential to improve patient outcomes and ultimately contribute to better management of this disease.
Clinical • Liquid biopsy • Metastases • Biopsy
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR exon 18 mutation
over1year
An Observational Study Analyzing Progression Free Survival of Patients With EGFR Mutant NSCLC Treated with Osimertinib in South Carolina (IASLC-WCLC 2023)
Although first-generation tyrosine kinase inhibitors have been the standard front-line treatment option for advanced EGFR mutated NSCLC, newer studies have shown improved survival outcomes with osimertinib therapy when compared to other tyrosine kinase inhibitors like gefitinib or erlotinib. While the difference in PFS between exon 19 deletion and exon 21 L858R mutation NSCLC patients was statistically insignificant, the decrease in PFS of patients with an exon 20 mutation treated with osimertinib was significant, suggesting a different treatment may benefit these patients. For the patients with a coexisting EGFR and PDL mutation, the NCCN guidelines (ref: NCCN 2023) state the treatment for PDL > 50% is pembrolizumab. This opens further prospective for research on co-existing PDL mutations with EGFR and associated treatment outcomes.
Clinical • Observational data • PD(L)-1 Biomarker
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR L858R • EGFR exon 19 deletion • EGFR exon 18 mutation • EGFR L858R + EGFR exon 19 deletion
|
Keytruda (pembrolizumab) • Tagrisso (osimertinib) • erlotinib • gefitinib
over1year
Metastatic NSCLC with G719X/S781I EGFR-mutations with acquired BRAF V600E mutation - response to Osimertinib, Dabrafenib and Trametinib (IASLC-WCLC 2023)
The patient initially received 1st line Erlotinib with remission maintained more than 4 years, despite an early dose reduction due to skin toxicity. Despite loss of the original compound EGFR mutation, the rebiopsy revealed a new pathogenic and druggable driver (BRAF p.V600E), which gave the patient a new possibility of further treatment. Yet, replacing Osimertinib with a BRAF/MEK-Is combination resulted only in mixed response, suggesting that some lesions might have remained, at least in part, dependent on the original EGFR mutations. Indeed, re-challenge with Osimertinib in reduced dose together with continuation of Dabrafenib and Trametinib resulted in SD and reflected spatial and temporal heterogeneity of NSCLC.
Metastases
|
EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene)
|
BRAF V600E • EGFR mutation • BRAF V600 • EGFR exon 20 insertion • EGFR G719X • EGFR exon 18 mutation
|
cobas® EGFR Mutation Test v2 • Oncomine™ Comprehensive Assay v3M • Archer® FusionPlex® Lung Kit
|
Mekinist (trametinib) • Tagrisso (osimertinib) • erlotinib • Tafinlar (dabrafenib)
over1year
Clinical Study to Molecularly Profile Filipino Lung Adenocarcinoma (IASLC-WCLC 2023)
Filipino patients with lung adenocarcinoma albeit small in sample size, have remarkable diversity in molecular profile while confirming reported EGFR and ALK values. CTC values were generally low despite being at advanced stages. CD133, KRT19 and MUC1 expression were detected in half of the samples and may find diagnostic and therapeutic utility.
Clinical
|
EGFR (Epidermal growth factor receptor) • ALK (Anaplastic lymphoma kinase) • MUC1 (Mucin 1) • KRT19 (Keratin 19)
|
EGFR mutation • EGFR L858R • EGFR exon 19 deletion • ALK positive • ALK mutation • EGFR G719X • EGFR exon 18 mutation • MUC1 expression • CD133 expression • EGFR mutation + ALK mutation
over1year
Utility of ctDNA for Molecular Profiling in NSCLC Patients in Resource-Limited Clinical Setting (AMP Europe 2023)
ctDNA analysis is a critical challenge that often leads to false negative results due to biological variables such as stage of the disease, tumor volume, low DNA-shedding, and preanalytical variables. The current study demonstrates the utility of ctDNA as a non-invasive promising tool to detect targetable alterations in situations where tissue biopsy is inaccessible or tumor tissue is depleted. Real-time PCR- based platform is the most preferred option for molecular analysis of ctDNA in clinical settings over NGS, considering factors like cost, turnaround time, and availability of resources.
Clinical • Circulating tumor DNA
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR exon 19 deletion • EGFR exon 18 mutation
|
cobas® EGFR Mutation Test v2
over1year
Evaluation of EGFR and GeneFusion Assay Using Biocartis Idylla Technology in Lung Adenocarcinoma (AMP Europe 2023)
The Idylla EGFR testing is an accurate and simple tool useful for the early screening of EGFR mutations. The Idylla GeneFusion is a potential screening panel with short turnaround time using a minimal amount of tissue and might be considered as a relevant complementary testing to IHC in diagnostic molecular laboratories.
EGFR (Epidermal growth factor receptor) • ALK (Anaplastic lymphoma kinase) • MET (MET proto-oncogene, receptor tyrosine kinase) • RET (Ret Proto-Oncogene) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • NTRK (Neurotrophic receptor tyrosine kinase)
|
EGFR mutation • EGFR L858R • EGFR T790M • RET fusion • EGFR expression • MET exon 14 mutation • ALK fusion • EGFR L861Q • ROS1 fusion • EGFR S768I • EGFR G719A • EGFR exon 18 mutation
|
cobas® EGFR Mutation Test v2 • Idylla™ GeneFusion Assay • Idylla™ EGFR Mutation Test
over1year
FOLFOXIRI With or Without Panitumumab in Metastatic Colorectal Cancer (VOLFI) (clinicaltrials.gov)
P2, N=93, Completed, AIO-Studien-gGmbH | Active, not recruiting --> Completed
Trial completion • Metastases
|
EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • ERCC1 (Excision repair cross-complementation group 1) • RAS (Rat Sarcoma Virus) • MTHFR (Methylenetetrahydrofolate Reductase)
|
EGFR mutation • PIK3CA mutation • KRAS wild-type • RAS wild-type • EGFR exon 18 mutation • KRAS exon 2 mutation • EGFR mutation + PIK3CA mutation • KRAS exon 2 wild-type • KRAS exon 3 mutation • KRAS exon 4 mutation
|
5-fluorouracil • Vectibix (panitumumab) • oxaliplatin • irinotecan • leucovorin calcium
over1year
Epidermal Growth Factor Receptor Mutation Status and the Impact on Clinical Outcomes in Patients with Non-Small Cell Lung Cancer. (PubMed, Balkan J Med Genet)
Mutations are prevalent in those patients who are female, adenocarcinoma, and have never smoked. Moreover, advanced EGFR mutation-positive patients have better PFS and OS than those with wild type EGFR.
Clinical data • Journal
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR wild-type • EGFR exon 18 mutation
over1year
Overview on Therapeutic Options in Uncommon EGFR Mutant Non-Small Cell Lung Cancer (NSCLC): New Lights for an Unmet Medical Need. (PubMed, Int J Mol Sci)
Defining the best treatment option for this patient population remains an unmet medical need. The objective of this review is to evaluate existing data on the outcomes, epidemiology, and clinical characteristics of lung cancer patients with rare EGFR mutations, with a focus on intracranial activity and response to immunotherapy.
Review • Journal • IO biomarker
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR L858R • EGFR exon 19 deletion • EGFR S768I • EGFR exon 18 mutation
over1year
Advanced Non-small Cell Lung Cancer: EGFR Mutation Analysis Using Pyrosequencing and the Fully Automated qPCR-Based Idylla System. (PubMed, Cancer Control)
These findings underline the imperious need for implementing quick and efficient targeted methods for routine EGFR mutation testing among NSCLC patients, which is particularly useful in determining patients who are more likely to benefit from targeted therapy.
Journal • Metastases
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • EGFR exon 19 deletion • EGFR positive • EGFR exon 18 mutation
over1year
Investigation of EGFR and ALK mutation frequency and treatment results in advanced non-small cell lung cancer. (PubMed, J Cancer Res Ther)
Patients with EGFR and ALK mutations had a longer life expectancy than those without the mutation. It was observed that testing patients diagnosed with advanced-stage NSCLC for genetic mutations of the tumor in the first step of the treatment and initiating treatment in patients with mutations provided a significant survival advantage.
Journal • Metastases
|
EGFR (Epidermal growth factor receptor) • ALK (Anaplastic lymphoma kinase)
|
EGFR mutation • ALK mutation • EGFR exon 18 mutation • EGFR mutation + ALK mutation
over1year
Clinical analysis of the presence of comutations in patients with EGFR-mutated NSCLC. (ASCO 2023)
Finally, we analyzed the progression-free survival (PFS) and overall survival (OS) of commutated patients vs. non-commutated treated with Osimertinib as a first line treatment and, although it was statistically non-significant due to the small sample size (11 vs 9) and the short follow-up, a very positive trend was seen (log-rank test p = 0.055 and p = 0.136 respectively). With the development of NGS, the presence of other commutations besides EGFR have implications that are still unknown, but it appears that it may cause worse OS and PFS. This should be studied in larger cohorts with longer follow-up.
Clinical • PD(L)-1 Biomarker • IO biomarker
|
EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • MET (MET proto-oncogene, receptor tyrosine kinase) • BAP1 (BRCA1 Associated Protein 1) • PI3K (Phosphoinositide 3-kinases)
|
TP53 mutation • EGFR mutation • HER-2 amplification • EGFR L858R • EGFR exon 19 deletion • MET amplification • PD-L1 negative • EGFR exon 18 mutation
|
PD-L1 IHC 22C3 pharmDx • AVENIO Tumor Tissue Targeted Kit
|
Tagrisso (osimertinib)
over1year
Genomic profiling in advanced NSCLC in Italy: First results of NERoNE (NSCLC Emilia Romagna Next Generation Sequencing Evaluation) project. (ASCO 2023)
NERoNE evaluates data from NGS profiling of three OU mapping key actionable molecular alterations in a large population of aNSCLC also accounting for PDL1 status. This preliminary analysis will be the starting point for further evaluations in order to improve the personalized approach to aNSCLC. >*For 15 pts PDL1 expression was not known.
PD(L)-1 Biomarker • IO biomarker • Next-generation sequencing • Metastases
|
EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • MET (MET proto-oncogene, receptor tyrosine kinase) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • FGFR1 (Fibroblast growth factor receptor 1) • NTRK (Neurotrophic receptor tyrosine kinase)
|
PD-L1 expression • BRAF V600E • KRAS mutation • EGFR mutation • KRAS G12C • BRAF V600 • EGFR expression • MET exon 14 mutation • RET rearrangement • KRAS G12 • EGFR exon 18 mutation • FGFR1 expression
|
Oncomine™ Dx Target Test • Oncomine™ Comprehensive Assay v3M • Oncomine Focus Assay
over1year
EGFR assessment using next generation sequencing as a reflex testing on surgically resected non-squamous non-small cell lung carcinoma. (ASCO 2023)
Genomic alteration should be systematically evaluated using an NGS reflex testing in surgically resected NS-NSCLC, since future adjuvant therapeutic decision making may consider the presence of compound EGFR mutations as well as co-occuring mutations in other genes, especially in TP53.
PD(L)-1 Biomarker • IO biomarker • Next-generation sequencing • Reflex
|
EGFR (Epidermal growth factor receptor) • PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • MET (MET proto-oncogene, receptor tyrosine kinase)
|
PD-L1 expression • TP53 mutation • EGFR mutation • EGFR L858R • EGFR expression • MET exon 14 mutation • MET mutation • EGFR exon 18 mutation
|
Oncomine Precision Assay