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our Premium Content: News alerts, weekly reports and conference plannersBIOMARKER:
EGFR mutation + PTEN mutation
i
Other names: EGFR, ERBB, ERBB1, Epidermal growth factor receptor, PTEN, Phosphatase and tensin homolog, Mutated In Multiple Advanced Cancers 1, Phosphatase And Tensin Homolog, Phosphatidylinositol 3,4,5-Trisphosphate 3-Phosphatase And Dual-Specificity Protein Phosphatase PTEN, MMAC1, TEP1, MMAC1 Phosphatase And Tensin Homolog Deleted On Chromosome 10, Mitochondrial Phosphatase And Tensin Protein Alpha, Phosphatase And Tensin-Like Protein, Protein Tyrosine Phosphatase, Mitochondrial PTENalpha, PTENbeta, PTEN1
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News alerts, weekly reports and conference planners
1year
Breast Cancer Genome Guided Therapy Study (BEAUTY) (clinicaltrials.gov)
P=N/A, N=140, Active, not recruiting, Mayo Clinic | N=200 --> 140
Enrollment change
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EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • PTEN (Phosphatase and tensin homolog) • PI3K (Phosphoinositide 3-kinases)
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HER-2 positive • KRAS mutation • EGFR mutation • HER-2 amplification • HER-2 negative • KIT mutation • EGFR mutation + PTEN mutation
over1year
Comprehensive genomic profiling of tumour spatial heterogeneity for clinically-actionable genomic alterations (ECP 2024)
CDx-associated SV, CNA, and RE were concordant across intra-tumoural space, consistent with early emergence (a.k.a. truncal mutation) and stability during tumorigenesis. Overall, these results have important implications for diagnostic testing, including patient biopsy/surgical sampling and laboratory microdissection practices, which we find to be sound for the detection of therapy-related AGA in this study.
Clinical
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EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • PTEN (Phosphatase and tensin homolog)
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BRAF V600E • EGFR mutation • HER-2 amplification • BRAF V600 • EGFR L858R • PTEN mutation • ALK fusion • RAS wild-type • EGFR mutation + PTEN mutation • MET D1010H
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FoundationOne® CDx
over1year
Overcoming osimertinib resistance with AKT inhibition in EGFRm-driven Non-Small-Cell-Lung-Cancer with PIK3CA/PTEN alterations. (PubMed, Clin Cancer Res)
Together, this approach offers a potential treatment strategy for patients with EGFRm-driven NSCLC that have a sub-optimal response, or develop resistance, to osimertinib through PIK3CA/AKT/PTEN alterations.
Journal
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PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog)
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EGFR mutation • PIK3CA mutation • PTEN mutation • EGFR mutation + PTEN mutation
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Tagrisso (osimertinib) • Truqap (capivasertib)
2years
Recurrent copy number changes in glioblastoma, IDH-wildtype: are other +7/-10 patterns clinically relevant? (SNO 2023)
In comparison to tumors with +7/-10, tumors with other +7/-10 patterns were significantly enriched for partial 13 loss (Bonferroni adjusted p=0.04) but were not associated with significant difference in patient overall survival (p=0.30, 158/418 had available survival data).Our findings reiterate and expand the spectrum of copy number changes associated with GBM, IDH-WT. The similar overall survival rates between cases with the +7/-10 biomarker and those with other +7/-10 patterns suggest that other +7/-10 patterns may be functionally equivalent to +7/-10 and diagnostically relevant as a molecular diagnostic biomarker for this tumor type.
Clinical
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EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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TP53 mutation • EGFR mutation • EGFR amplification • PTEN mutation • CDKN2A deletion • CDKN2A mutation • TERT mutation • IDH wild-type • EGFR mutation + PTEN mutation
over2years
Study on the Molecular Markers of Resistance in the First-line Treatment of NSCLC with EGFR Positive by Aumolertinib (IASLC-WCLC 2023)
Based on NGS and PD-L1 IHC, gene mutation, TMB and PD-L1 expression are analyzed. Cox single factor and PFS are used to verify that these molecular markers are independent of TMB and PD-L1 for targeted therapy of lung cancer.
Clinical • PD(L)-1 Biomarker • IO biomarker
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EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MET (MET proto-oncogene, receptor tyrosine kinase) • PTEN (Phosphatase and tensin homolog) • FGFR1 (Fibroblast growth factor receptor 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A)
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PD-L1 expression • EGFR mutation • BRAF mutation • PIK3CA mutation • MET amplification • EGFR T790M • PTEN mutation • FGFR1 amplification • CDKN2A mutation • PIK3CA amplification • EGFR positive • EGFR mutation + PIK3CA mutation • PIK3CA mutation + PTEN mutation • EGFR mutation + PTEN mutation • BRAF amplification
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Ameile (aumolertinib)
over2years
Alterations in PIK3CA/PTEN as resistance mechanisms in lung cancer patients progressing on first-line next generation EGFR/ALK tyrosine kinase inhibitors (AACR 2023)
We identified pts with EGFR mutations or ALK rearrangements who developed PIK3CA/PTEN alterations in tissue biopsy and/or circulating tumor DNA upon progression to first-line osimertinib/alectinib. Activating PI3KCA mutations and molecular events leading to PTEN loss are frequent events at resistance to first-line EGFR/ALK TKIs, and can be detected concomitantly. Functional assays confirmed that these alterations act as resistance mechanisms. These observations are of interest as PI3KCA/mTOR inhibitors may have a role in overcoming resistance.
Clinical
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EGFR (Epidermal growth factor receptor) • ALK (Anaplastic lymphoma kinase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog)
|
EGFR mutation • PIK3CA mutation • ALK rearrangement • PIK3CA E545K • ALK fusion • EGFR mutation + PIK3CA mutation • PIK3CA E545 • PIK3CA mutation + PTEN mutation • EGFR mutation + PTEN mutation • PIK3CA N345K • ALK rearrangement + PIK3CA mutation
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Tagrisso (osimertinib) • Alecensa (alectinib)
almost3years
Breast Cancer Genome Guided Therapy Study (BEAUTY) (clinicaltrials.gov)
P=N/A, N=200, Active, not recruiting, Mayo Clinic | Trial completion date: Dec 2022 --> Dec 2032
Trial completion date
|
EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • PTEN (Phosphatase and tensin homolog) • PI3K (Phosphoinositide 3-kinases)
|
HER-2 positive • KRAS mutation • EGFR mutation • BRAF mutation • HER-2 amplification • HER-2 negative • PTEN mutation • KIT mutation • EGFR mutation + PTEN mutation
3years
Next-generation sequencing (NGS) for identifying actionable molecular alterations in newly diagnosed and recurrent IDHwt-glioblastoma (GBM) patients: a large mono institutional experience (SNO 2022)
All patients received radiotherapy and/or temozolomide as first line therapy...To date, 10% of patients received a personalized treatment as compassionate use, off-label use or in clinical trials (9 Dabrafenib/Trametinib, 8 Alpelisib, 3 Erdafitinib, 2 Ipatasertib, 1 Alectinib, 1 Capmatinib, 1 Palbociclib, 1 Entrectinib, 1 Pamiparib)...The activity analysis is ongoing. However, the incidence of actionable molecular alterations may differ between diagnosis and recurrent GBM samples.
Clinical • Tumor mutational burden • PARP Biomarker • BRCA Biomarker • Next-generation sequencing
|
EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • FGFR1 (Fibroblast growth factor receptor 1) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • CDK4 (Cyclin-dependent kinase 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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BRAF V600E • EGFR mutation • TMB-H • PIK3CA mutation • BRAF V600 • EGFR amplification • NF1 mutation • IDH wild-type • EGFR mutation + PTEN mutation
|
FoundationOne® CDx
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Mekinist (trametinib) • Ibrance (palbociclib) • Tafinlar (dabrafenib) • Rozlytrek (entrectinib) • temozolomide • Alecensa (alectinib) • Piqray (alpelisib) • Balversa (erdafitinib) • ipatasertib (RG7440) • Tabrecta (capmatinib) • Partruvix (pamiparib)
3years
Next-generation sequencing (NGS) for identifying actionable molecular alterations in newly diagnosed and recurrent IDHwt-glioblastoma (GBM) patients: a large mono institutional experience (EANO 2022)
All patients received radiotherapy and/or temozolomide as first line therapy...To date, 10% of patients received a personalized treatment as compassionate use, off-label use or in clinical trials (9 Dabrafenib/Trametinib, 8 Alpelisib, 3 Erdafitinib, 2 Ipatasertib, 1 Alectinib, 1 Capmatinib, 1 Palbociclib, 1 Entrectinib, 1 Pamiparib)... NGS is feasible in GBM samples. Potentially, a high rate of patients could receive a personalized treatment. The activity analysis is ongoing.
Clinical • Tumor mutational burden • PARP Biomarker • BRCA Biomarker • Next-generation sequencing
|
EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • FGFR1 (Fibroblast growth factor receptor 1) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • CDK4 (Cyclin-dependent kinase 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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BRAF V600E • EGFR mutation • TMB-H • PIK3CA mutation • BRAF V600 • EGFR amplification • NF1 mutation • IDH wild-type • EGFR mutation + PTEN mutation
|
FoundationOne® CDx
|
Mekinist (trametinib) • Ibrance (palbociclib) • Tafinlar (dabrafenib) • Rozlytrek (entrectinib) • temozolomide • Alecensa (alectinib) • Piqray (alpelisib) • Balversa (erdafitinib) • ipatasertib (RG7440) • Tabrecta (capmatinib) • Partruvix (pamiparib)
over3years
Metabolic Rewiring in Glioblastoma Cancer: EGFR, IDH and Beyond. (PubMed, Front Oncol)
Accordingly, actionable metabolic dependencies are currently used to design new treatments for patients with glioblastoma. Herein, we capture the current knowledge of genetic alterations in GBM, provide a detailed understanding of the alterations in metabolic pathways, and discuss their relevance in GBM therapy.
Review • Journal
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EGFR (Epidermal growth factor receptor) • PTEN (Phosphatase and tensin homolog)
|
EGFR mutation • EGFR amplification • EGFR mutation + PTEN mutation
over3years
Next-generation sequencing (NGS) for identifying actionable molecular alterations in newly diagnosed and recurrent IDHwt-glioblastoma (GBM) patients: A large mono institutional experience (ESMO 2022)
All patients received radiotherapy and/or temozolomide as first line therapy...To date, 10% of patients received a personalized treatment as compassionate use, off-label use or in clinical trials (9 Dabrafenib/Trametinib, 8 Alpelisib, 3 Erdafitinib, 2 Ipatasertib, 1 Alectinib, 1 Capmatinib, 1 Palbociclib, 1 Entrectinib, 1 Pamiparib)...The activity analysis is ongoing. However, the incidence of actionable molecular alterations may differ between diagnosis and recurrent GBM samples.
Clinical • Tumor mutational burden • PARP Biomarker • BRCA Biomarker • Next-generation sequencing
|
EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • FGFR1 (Fibroblast growth factor receptor 1) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • CDK4 (Cyclin-dependent kinase 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
|
BRAF V600E • EGFR mutation • TMB-H • PIK3CA mutation • BRAF V600 • EGFR amplification • NF1 mutation • IDH wild-type • EGFR mutation + PTEN mutation
|
FoundationOne® CDx
|
Mekinist (trametinib) • Ibrance (palbociclib) • Tafinlar (dabrafenib) • Rozlytrek (entrectinib) • temozolomide • Alecensa (alectinib) • Piqray (alpelisib) • Balversa (erdafitinib) • ipatasertib (RG7440) • Tabrecta (capmatinib) • Partruvix (pamiparib)
over3years
An Exploratory Study on Biomarkers Related to Primary Resistance Of EGFR-TKIs Therapy in Lung Cancer (IASLC-WCLC 2022)
1. Some mutations affecting the function of tumor cells and the activation of special signaling pathways may be related to the primary resistance of EGFR-TKIs. 2.
Tumor Mutational Burden • PD(L)-1 Biomarker • IO biomarker
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EGFR (Epidermal growth factor receptor) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MET (MET proto-oncogene, receptor tyrosine kinase) • PTEN (Phosphatase and tensin homolog) • CDK6 (Cyclin-dependent kinase 6)
|
KRAS mutation • EGFR mutation • PD-L1 overexpression • PIK3CA mutation • MET amplification • EGFR T790M • PTEN deletion • EGFR expression • PTEN mutation • MET mutation • EGFR mutation + PIK3CA mutation • PIK3CA mutation + PTEN mutation • EGFR mutation + PTEN mutation • KRAS deletion
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