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BIOMARKER:

PIK3CA E542

i
Other names: PIK3CA, Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha, Phosphoinositide-3-kinase, catalytic, alpha polypeptide, Serine/threonine protein kinase PIK3CA, PtdIns-3-kinase subunit P110-alpha, PI3K-alpha, Phosphatidylinositol-4,5-bisphosphate 3-kinase 110 KDa catalytic subunit alpha, Phosphatidylinositol 3-kinase, Catalytic, 110-KD, alpha, PI3-kinase P110 subunit alpha, PI3-kinase subunit alpha, PtdIns-3-kinase subunit alpha, PI3Kalpha, P110alpha, PI3K
Entrez ID:
Related biomarkers:
14d
Discovery of Pyridopyrimidinones that Selectively Inhibit the H1047R PI3Kα Mutant Protein. (PubMed, J Med Chem)
When dosed in the HCC1954 tumor model in mice, 17 provided tumor regressions and a clear pharmacodynamic response. X-ray cocrystal structures from several PI3Kα inhibitors were obtained, revealing three distinct binding modes within PI3KαH1047R including a previously reported cryptic pocket in the C-terminus of the kinase domain wherein we observe a ligand-induced interaction with Arg1047.
Journal
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PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
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PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E545 • PIK3CA E542 • PIK3CA H1047L
22d
Comprehensive genomic profiling of advanced breast cancer subtypes: Insights from liquid biopsy analysis and implications for personalized therapies (AACR 2024)
This study offers insights into the genomic landscape of advanced breast cancer subtypes through liquid biopsy. The observed prevalence of PIK3CA mutations supports the potential efficacy of PI3K inhibitors across these diverse types of breast cancer, laying the groundwork for personalized therapeutic strategies and biomarker identification for prognosis and targeted therapies.
Liquid biopsy • BRCA Biomarker • Metastases • Biopsy
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HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • FGFR1 (Fibroblast growth factor receptor 1) • RAD50 (RAD50 Double Strand Break Repair Protein)
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HER-2 positive • TP53 mutation • HR positive • PIK3CA mutation • PIK3CA E545 • PIK3CA H1047 • PIK3CA E542
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PredicineCARE™
22d
Detection of hotspot PIK3CA mutations in primary tumors and plasma-cfDNA of breast cancer patients using a novel highly sensitive CE-IVD kit (AACR 2024)
The commercially available Oncolipsy PIK3CA CE-IVD kit is highly sensitive and specific for the detection of four PIK3CA hotspot mutations in primary tumors and plasma-cfDNA.
Clinical • Cell-free DNA
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ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
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ER positive • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • PIK3CA E545 • PIK3CA E542
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cobas® PIK3CA Mutation Test
1m
A Study of Alpelisib and Fulvestrant to Treat Endometrial Cancer (clinicaltrials.gov)
P2, N=51, Recruiting, GOG Foundation | Not yet recruiting --> Recruiting
Enrollment open
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ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability)
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PIK3CA mutation • PIK3CA E545 • PIK3CA E542 • PIK3CA M1043I • PIK3CA C420R • PIK3CA N345K • PIK3CA G1049R • PIK3CA Q546
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Piqray (alpelisib) • fulvestrant
1m
Genomic Insights into Bone Sarcomas Originating from Infarcts (USCAP 2024)
Bone sarcomas associated with infarcts exhibit genomic instability, with pronounced copy number variations, especially in Chromosome 12. CDKN2A/B homozygous deletion is highly prevalent, whereas TP53 alterations appear less frequent than in osteosarcomas. MDM2 amplification and H3.3-G34 mutations are recurrent (33%).
TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • HRD (Homologous Recombination Deficiency) • HRAS (Harvey rat sarcoma viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • DNMT3A (DNA methyltransferase 1) • MDM2 (E3 ubiquitin protein ligase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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PIK3CA mutation • HRD • MDM2 amplification • CDKN2A deletion • HRAS mutation • HRAS G13R • PIK3CA E542K • PIK3CA E542 • HRAS G13R
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TruSight Oncology 500 Assay
2ms
A novel label-free capillary electrophoresis LED-induced fluorescence platform based on catalytic hairpin assembly for sensitive detection of multiple circulating tumor DNA. (PubMed, Analyst)
The results of this study show that this strategy has significant advantages such as high selectivity, a simple process, no special instruments and equipment, no need for fluorescence modification of hairpin probes in advance, high automation, low cost, and minimal sample consumption. This provides a powerful method for the detection of trace cancer biomarkers in the serum matrix with good application prospects.
Journal • Circulating tumor DNA
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TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
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PIK3CA E542K • PIK3CA E542
2ms
ACEK Biosensor for the Minute-Scale Quantification of Breast Cancer ctDNA. (PubMed, Sensors (Basel))
This research provides a label-free and minute-scale universal method for the detection of various malignant tumors. The ctDNA biosensors based on the ACEK effect improved according to the probe type or electrode structure and have potential applications in tumor drug efficacy prediction, drug resistance monitoring, screening of high-risk groups, differential diagnosis, monitoring of tiny residual lesions, and prognosis determination.
Journal • Circulating tumor DNA
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PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
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PIK3CA mutation • PIK3CA E542K • PIK3CA E542
2ms
Whether specific genetic feature predicted immunotherapy efficacy: A case report. (PubMed, Medicine (Baltimore))
PIK3CA-E542K, ErbB2 amplification, and SMAD4 mutations could be potential biomarkers for PD-1 inhibitors, but a single instance is insufficient to validate the hypotheses. A larger number of patients or more clinical data will be necessary to determine whether these gene mutations are appropriate biomarkers for patients when treatment with PD-1 inhibitors.
Journal • Tumor mutational burden • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
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HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • ALK (Anaplastic lymphoma kinase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • SMAD4 (SMAD family member 4) • TYK2 (Tyrosine Kinase 2)
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MSI-H/dMMR • HER-2 amplification • PIK3CA mutation • HER-2 mutation • PD-L1 negative • PIK3CA E545K • TMB-L • ALK mutation • PIK3CA E542K • SMAD4 mutation • PIK3CA E545 • PIK3CA E542
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Yutuo (zimberelimab)
3ms
Testing the Addition of an Anti-cancer Drug, Copanlisib, to the Usual Immunotherapy (Nivolumab With or Without Ipilimumab) in Patients With Advanced Solid Cancers That Have Changes in the Following Genes: PIK3CA and PTEN (clinicaltrials.gov)
P1/2, N=102, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Dec 2023 --> Dec 2024 | Trial primary completion date: Dec 2023 --> Dec 2024
Trial completion date • Trial primary completion date • Checkpoint inhibition • IO biomarker • Metastases
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PD-L1 (Programmed death ligand 1) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog)
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PIK3CA mutation • PTEN mutation • PIK3CA E545 • PIK3CA H1047 • PIK3CA E542
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Opdivo (nivolumab) • Yervoy (ipilimumab) • Aliqopa (copanlisib) • ABP 206 (nivolumab biosimilar)
3ms
Testing the Combination of the Anti-cancer Drugs Copanlisib, Olaparib, and MEDI4736 (Durvalumab) in Patients With Advanced Solid Tumors With Selected Mutations (clinicaltrials.gov)
P1, N=108, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Jun 2024 --> Dec 2024 | Trial primary completion date: Jun 2024 --> Dec 2024
Trial completion date • Trial primary completion date • Metastases
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PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • CD4 (CD4 Molecule) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
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PIK3CA mutation • PTEN mutation • PALB2 mutation • CDK12 mutation • PIK3CA E545 • PIK3CA H1047 • BARD1 mutation • PIK3CA E542 • RAD51 mutation
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Lynparza (olaparib) • Imfinzi (durvalumab) • Aliqopa (copanlisib)
3ms
Enrollment closed • Metastases
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PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • CD4 (CD4 Molecule) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
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PIK3CA mutation • PTEN mutation • PALB2 mutation • CDK12 mutation • PIK3CA E545 • PIK3CA H1047 • BARD1 mutation • PIK3CA E542 • RAD51 mutation
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Lynparza (olaparib) • Imfinzi (durvalumab) • Aliqopa (copanlisib)
4ms
The genomic landscape of patients with advanced colorectal adenocarcinoma with PIK3CA mutations using comprehensive cell free tumor DNA next generation sequencing. (ASCO-GI 2024)
Our study shows the frequency of PIK3CAm and distribution of exons 9 and 20 are similar to those found previously in the literature by Tan (Xie) et al., 2022. Our results demonstrate PIK3CA having a low frequency of MSI-H co-occurrence, higher TMB scores, and increased co-occurring alterations with notable increased in APC, BRAF, EGFR, ERBB2 and KRAS, which may suggest higher genomic instability. Our findings underscore the clinical significance of PIK3CAm in the context of CRC, emphasizing their role as key drivers of oncogenesis, and supports the development of tailored therapeutic strategies such as combining PIK3CAi with immunotherapy or other targeted therapies.
Clinical • MSi-H Biomarker • IO biomarker • Next-generation sequencing • Circulating tumor DNA • Metastases
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EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability)
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BRAF V600E • KRAS mutation • TMB-H • MSI-H/dMMR • KRAS G12C • PIK3CA mutation • KRAS G12 • KRAS G13 • PIK3CA E545 • PIK3CA H1047 • PIK3CA E542 • PIK3CA Q546
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Guardant360® CDx
4ms
Enrollment change • Metastases
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
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ER positive • HER-2 negative • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • PIK3CA E545 • PIK3CA E542 • PIK3CA H1047L • PGR expression
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capecitabine • Piqray (alpelisib) • fulvestrant • goserelin acetate
4ms
Phase classification • Metastases
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PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • CD4 (CD4 Molecule) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
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PIK3CA mutation • PTEN mutation • PALB2 mutation • CDK12 mutation • PIK3CA E545 • PIK3CA H1047 • BARD1 mutation • PIK3CA E542 • RAD51 mutation
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Lynparza (olaparib) • Imfinzi (durvalumab) • Aliqopa (copanlisib)
5ms
PIK3CA mutational status in tissue & plasma as a prognostic tool in HR+/HER2- breast cancer (BC) (SABCS 2023)
Our results support the PIK3CA determination in tissue as the diagnostic method of choice, although further studies could better define the role of liquid biopsy in the detection of PIK3CAm. In our population, the presence of PIK3CAm confers poorer prognosis in luminal BC, being significantly worse in mutation carriers in exon 9 regardless visceral involvement and plasma mutation detection. Table.
HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • KIT (KIT proto-oncogene, receptor tyrosine kinase)
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HER-2 negative • PIK3CA mutation • KIT mutation • PIK3CA E545 • PIK3CA E542
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cobas® PIK3CA Mutation Test
5ms
Identification of functional HLA-A*11:01-restricted driver gene PIK3CA mutation specific T-cell receptors (SABCS 2023)
These findings strongly encourage further investigation into TCRs targeting driver mutations in MBC, with the aim of advancing neoantigen-targeted TCR-T therapies into clinical trials. Additionally, the PIK3CA_H1047L neoantigen holds great promise as a potential candidate for the development of effective cancer vaccines.
IO biomarker
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PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • IFNG (Interferon, gamma) • TNFRSF9 (TNF Receptor Superfamily Member 9) • TAP1 (Transporter 1)
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PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • IFNG expression • PIK3CA E545 • PIK3CA E542 • PIK3CA H1047L • HLA-A*11
5ms
Elacestrant vs standard-of-care in ER+/HER2- advanced or metastatic breast cancer (mBC) with ESR1 mutation: key biomarkers and clinical subgroup analyses from the phase 3 EMERALD trial (SABCS 2023)
Patients with ER+/HER2- advanced or mBC who previously had 1-2 lines of endocrine therapy, and prior CDK4/6i, were randomized 1:1 to receive elacestrant or SOC (aromatase inhibitor or fulvestrant). Elacestrant showed significantly greater PFS when prior treatment duration with CDK4/6i was at least 12 months, suggesting prior exposure to CDK4/6i is a surrogate marker for endocrine sensitivity. In this population, elacestrant demonstrated superior efficacy, compared to SOC, even in patients with concomitant PIK3CA or TP53 mutations, expression of HER2 low, or presence of liver and/or lung metastases. These results suggest an active ER-driven pathway for this group despite the presence of other resistance mechanisms, where single-agent oral elacestrant could be an attractive option compared to combination therapies or intravenous HER2 low-targeted ADCs.
Clinical • P3 data • Metastases
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • CDK4 (Cyclin-dependent kinase 4)
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TP53 mutation • HER-2 amplification • HER-2 negative • PIK3CA mutation • HER-2 expression • PIK3CA H1047R • HER-2 underexpression • PIK3CA E545K • ER mutation • ESR1 mutation • PIK3CA E545 • PIK3CA E542 • PIK3CA expression
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fulvestrant • Orserdu (elacestrant)
5ms
Comparison of next-generation sequencing (NGS) results from the cerebrospinal fluid, peripheral blood, and systemic metastatic tumor tissue of patients with metastatic breast cancer (MBC) and leptomeningeal disease (LMD) (SABCS 2023)
We observed concordance and heterogeneity in the status of actionable mutations between the CSF, peripheral blood, and systemic metastatic tumor tissue. Larger studies are needed to assess the clinical utility of these observations, particularly with the development of several novel targeted agents that are CNS-penetrant.
Clinical • Next-generation sequencing • Metastases
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
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TP53 mutation • HER-2 amplification • HER-2 negative • PIK3CA mutation • HER-2 mutation • ER Y537S • PIK3CA E542K • PIK3CA E545 • PIK3CA E542 • TP53 R273H
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FoundationOne® CDx • Guardant360® CDx • CNSide™ Cerebrospinal Fluid Assay
5ms
Title , Early Identification of KRAS and PIK3CA Mutations Using Multiplex Digital PCR Compatible with Liquid Biopsy Samples to Support Tumor Progression Surveillance (AMP 2023)
We developed a comprehensive multiplex mutant detection method with high sensitivity and specificity. This study demonstrates the strong potential of Absolute Q dPCR as a powerful multiplex platform for early mutation detection and monitoring in liquid biopsy samples.
Liquid biopsy • Biopsy
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KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
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KRAS mutation • KRAS G12C • PIK3CA mutation • KRAS G12D • PIK3CA H1047R • KRAS wild-type • PIK3CA E545K • RAS wild-type • KRAS G12 • PIK3CA E542K • KRAS G12S • PIK3CA E545 • PIK3CA E542 • PIK3CA H1047L • PIK3CA mutation + KRAS mutation
6ms
Analysis of several common APOBEC-type mutations in bladder tumors suggests links to viral infection. (PubMed, Cancer Prev Res (Phila))
BKPyV tumor positivity in the NMIBC subset with FGFR3- or PIK3CA-mutated tumors was also associated with a higher risk of progression to MIBC (p=0.019). In conclusion, our results support smoking and BKPyV infection as risk factors contributing to bladder tumorigenesis in the general patient population through distinct molecular mechanisms.
Journal
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PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR3 (Fibroblast growth factor receptor 3)
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PIK3CA mutation • PIK3CA E545K • FGFR3 mutation • FGFR3 S249C • PIK3CA E542K • PIK3CA E545 • PIK3CA E542 • FGFR3 Y375C
6ms
Clear Cell Squamous Cell Carcinoma of the Maxillary Gingiva Associated with PIK3CA and HRAS Mutations: Report of a Case and Literature Review. (PubMed, Head Neck Pathol)
We report a case of CCSCC of the oral cavity with PIK3CA and HRAS mutations. The identification of PIK3CA and/or HRAS mutations is rare in SCC; however, both mutations are important potential targets for antitumor therapy. A detailed analysis of gene mutations in CCSCC may lead to a better understanding of its biological behavior and an improved prognosis, as well as a differential diagnosis from other clear cell neoplasms.
Review • Journal
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • EWSR1 (EWS RNA Binding Protein 1) • MME (Membrane Metalloendopeptidase) • MLANA (Melan-A) • TP63 (Tumor protein 63) • MAML2 (Mastermind Like Transcriptional Coactivator 2) • RASA1 (RAS P21 Protein Activator 1)
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TP53 mutation • PIK3CA mutation • PTEN mutation • KRAS G12A • HRAS mutation • PIK3CA E542K • NRAS G12 • PIK3CA E542
7ms
PIK3CA mutations in cutaneous squamous cell carcinoma. (PubMed, Intractable Rare Dis Res)
Although additional basic researches and clinical trials are necessary, various inhibitors may be effective therapeutics for PIK3CA mutation-positive cSCC. Our study revealed the prevalence of PIK3CA mutations in cSCC.
Journal
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PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
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PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • PIK3CA E545 • PIK3CA E542
7ms
Prevalence of PIK3CA mutations in Taiwanese patients with breast cancer: a retrospective next-generation sequencing database analysis. (PubMed, Front Oncol)
The secondary endpoints were to decipher the mutation types across breast cancer subtype, menopausal status, and time to treatment failure after everolimus (an mTOR inhibitor) or cyclin-dependent kinase 4/6 (CDK4/6) inhibitor treatment...A high frequency of PIK3CA mutations was detected in Taiwanese patients with breast cancer, which was consistent with previous studies. Early detection of PIK3CA mutations might influence therapeutic decisions, leading to better treatment outcomes.
Retrospective data • Journal • Next-generation sequencing
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HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
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HR positive • HER-2 negative • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E545 • PIK3CA E542 • PIK3CA wild-type • CDK4 mutation
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everolimus
8ms
Real-world challenges in undertaking NTRK fusion testing in non-small cell lung cancer. (PubMed, J Thorac Dis)
NTRK fusions in NSCLC are rare. This study highlights real world diagnostic challenges regarding NTRK testing, such as requirements of adequate tumor tissue and appropriate testing methodologies.
Journal • Real-world evidence • PD(L)-1 Biomarker • IO biomarker • Real-world
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EGFR (Epidermal growth factor receptor) • PD-L1 (Programmed death ligand 1) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MET (MET proto-oncogene, receptor tyrosine kinase) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • EML4 (EMAP Like 4) • NTRK (Neurotrophic receptor tyrosine kinase)
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PD-L1 expression • EGFR mutation • PIK3CA mutation • NTRK3 fusion • MET amplification • MET mutation • PIK3CA E542K • PIK3CA E542 • EML4-NTRK3 fusion • NTRK expression • NTRK fusion
8ms
Characteristics of PIK3CA gene mutations in Her2-low breast cancer (PubMed, Arkh Patol)
Statistically significant increase in the frequency of exon 9 mutations of the PIK3CA gene is specific for the group of patients with Her2-low BC. Our results supported the concept of Her2-low BCs as the unique entity and pointed out the need of their further study.
Journal
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HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • KIT (KIT proto-oncogene, receptor tyrosine kinase)
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HER-2 positive • HER-2 negative • PIK3CA mutation • HER-2 mutation • HER-2 expression • HER-2 underexpression • PIK3CA E545 • PIK3CA E542 • PIK3CA E545X • PIK3CA H1047X
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cobas® PIK3CA Mutation Test
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Piqray (alpelisib)
8ms
Prognostic value of PIK3CA mutational status in tissue & plasma in HR+/HER2- breast cancer (BC) (ESMO 2023)
Table: 495P Conclusions Our results support the determination of PIK3CA in tissue as the diagnostic method of choice, although further studies are needed to assess the role of liquid biopsy in the detection of PIK3CAm. In our population, the presence of PIK3CAm confers worse prognosis in luminal BC, being significantly worse in mutation carriers in exon 9 regardless visceral involvement.
HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • KIT (KIT proto-oncogene, receptor tyrosine kinase)
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HER-2 negative • PIK3CA mutation • KIT mutation • PIK3CA E545 • PIK3CA E542
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cobas® PIK3CA Mutation Test
8ms
Adjuvant aromatase inhibitors in patients with PIK3CA mutation early breast cancer (ESMO 2023)
Methods We studied a unicentre cohort of 262 patients with steroid hormone receptor-positive, HER2-negative eBC, who were planed to be treated with endocrine therapy only: aromatase inhibitor (AI, n=183) or Tamoxifen (TAM, n=69), AI and TAM (n=9), Fulvestrant (n=1) and tested the three most common somatic PIK3CA gene mutations (H1047R, E545K, E542K) by qPCR. Conclusions Although we observed a trend that AIs are less effective in patients with PIK3CA mutated tumours, formal validation is still lacking. Further data including prospective studies are required.
Clinical
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HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
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HR positive • HER-2 negative • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • HR positive + HER-2 negative • PIK3CA E545 • PIK3CA E542 • PIK3CA wild-type
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tamoxifen • fulvestrant
8ms
ORA-LM: Molecular Analysis in Cerebrospinal Fluid of ALK or EGFR Positive NSCLC Patients with Leptomeningeal Metastases (IASLC-WCLC 2023)
However, the MRI acquired four weeks after adding capmatinib showed partial response (PR) of LM.Patients with ALK+ NSCLC switched from alectinib [n=2] or brigatinib [n=1] to lorlatinib following LP. Although we identified the primary driver in 26 out of 28 patients with EGFRm+ NSCLC, only seven CSF samples showed RM (ERBB2, EGFR and PIK3CA). Commonly identified RMs in systemic progression such as EGFR C797X and METamp were not identified in CSF or plasma. Identifying resistance mechanisms to targeted therapy in LM proves difficult.
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) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
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EGFR mutation • ALK positive • PIK3CA E545K • ALK fusion • PIK3CA E542K • EGFR positive • BRAF K601E • PIK3CA E545 • PIK3CA E542 • BRAF K601
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Tagrisso (osimertinib) • Alecensa (alectinib) • Lorbrena (lorlatinib) • Alunbrig (brigatinib) • Tabrecta (capmatinib)
9ms
PIK3CA mutation subtype delineates distinct immune profiles in gastric carcinoma. (PubMed, J Pathol)
© 2023 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland
Journal • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability) • CD8 (cluster of differentiation 8) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C) • GZMB (Granzyme B) • VSIR (V-Set Immunoregulatory Receptor)
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MSI-H/dMMR • PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E542K • PIK3CA E545 • PIK3CA E542 • PIK3CA E545X
9ms
Enrollment closed • Checkpoint inhibition • IO biomarker • Metastases
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PD-L1 (Programmed death ligand 1) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog)
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PIK3CA mutation • PTEN mutation • PIK3CA E545 • PIK3CA H1047 • PIK3CA E542
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Opdivo (nivolumab) • Yervoy (ipilimumab) • Aliqopa (copanlisib) • ABP 206 (nivolumab biosimilar)
10ms
Multigenic testing of somatic mutations in solid tumor cells (EACR 2023)
In 10% of cases, an increase in the number of copies of the EGFR and KRAS genes was found, and in 10% of cases, a fusion gene (RNA) MET- MET.M13M15, TMPRSS2-ERG.The identified genome changes were processed by the server through the FDA, NCCN, EMA, ESMO registries to search for the most appropriate therapy options that exist in world practice for a specific type and localization of the established mutation.ConclusionConclusion. For personalized prescription of targeted drugs, it is more efficient to use multigene diagnostics for a comprehensive study of the mutational status of a tumor.
Tumor cell
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • FGFR3 (Fibroblast growth factor receptor 3) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • FGFR4 (Fibroblast growth factor receptor 4) • CREBBP (CREB binding protein) • ERG (ETS Transcription Factor ERG) • JAK3 (Janus Kinase 3)
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KRAS mutation • BRAF mutation • PIK3CA mutation • PIK3CA E542K • IDH1 R132H • BRAF G469V • PIK3CA E545 • IDH1 R132 • JAK3 mutation • PIK3CA E542 • PIK3CA H1047L • TMPRSS2-ERG fusion
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Oncomine Focus Assay
10ms
Testing the Combination of the Anti-cancer Drugs Copanlisib, Olaparib, and MEDI4736 (Durvalumab) in Patients With Advanced Solid Tumors With Selected Mutations (clinicaltrials.gov)
P1b, N=108, Recruiting, National Cancer Institute (NCI) | Trial completion date: Jun 2023 --> Jun 2024 | Trial primary completion date: Jun 2023 --> Jun 2024
Trial completion date • Trial primary completion date • Metastases
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PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • CD4 (CD4 Molecule) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
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PIK3CA mutation • PTEN mutation • PALB2 mutation • CDK12 mutation • PIK3CA E545 • PIK3CA H1047 • BARD1 mutation • PIK3CA E542 • RAD51 mutation
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Lynparza (olaparib) • Imfinzi (durvalumab) • Aliqopa (copanlisib)
10ms
PIK3CA mutations in breast cancer: A Tunisian series. (PubMed, PLoS One)
The frequency of somatic PIK3CA mutations in BCs of Tunisian women is slightly higher than that of BCs of Caucasian women and more observed in exon 9 than in exon 20. PIK3CA mutated status is associated with negative lymph node status. These data need to be confirmed in larger series.
Journal
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HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PGR (Progesterone receptor)
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PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E545 • PIK3CA E542
11ms
Potential therapeutic implications of next generation sequencing (NGS)-based molecular profiling in HR+/HER2- metastatic breast cancer (mBC). (ASCO 2023)
PIK3CA is among the most frequently mutated genes in BC (approximately 40% of cases) and its mutations portend sensitivity to PI3K inhibitors, such as alpelisib, in combination with hormonal treatment in HR+/HER2- cases... In our analysis PIK3CA was confirmed to be the most frequently mutated gene (51% of cases); however, due to the specific European regulatory constraints, it was deemed to be actionable in a minority of cases, suggesting that NGS profiling should be performed early on after the diagnosis of metastatic disease, in order to inform the overall therapeutic strategy. Other potentially actionable alterations (FGFR1/2, AKT, HER2 ex 20 mutations) emerged from extended NGS profiling, suggesting its potential utility in selected HR+/HER2- mBC pts.
Tumor mutational burden • BRCA Biomarker • Next-generation sequencing • Metastases
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HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • 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) • MSI (Microsatellite instability) • FGFR1 (Fibroblast growth factor receptor 1) • CCND1 (Cyclin D1) • PALB2 (Partner and localizer of BRCA2) • CDH1 (Cadherin 1) • NSD3 (Nuclear Receptor Binding SET Domain Protein 3) • RAD21 (RAD21 Cohesin Complex Component)
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HER-2 negative • PIK3CA mutation • HER-2 mutation • PIK3CA H1047R • FGFR1 amplification • PALB2 mutation • PIK3CA E545K • CCND1 amplification • PIK3CA E542K • PIK3CA E545 • PIK3CA E542 • PIK3CA N345K
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FoundationOne® CDx • TruSight Oncology 500 Assay
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Piqray (alpelisib)
11ms
Temsirolimus (T) in patients (pts) with solid tumors with PIK3CA mutation (mut): Results from the Targeted Agent and Profiling Utilization Registry (TAPUR) study. (ASCO 2023)
Although T does not appear to have antitumor activity in pts with BC with PIK3CA mut, it does show antitumor activity in pts with other solid tumors with PIK3CA mut and warrants further study. Clinical trial information: NCT02693535. >
Clinical
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PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
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PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E545 • PIK3CA E542
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Torisel (temsirolimus)
1year
PIK3CA mutational status in tissue & plasma and clinicopathological features in HR+/HER2- breast cancer patients (ESMO-BC 2023)
We observed worse prognosis and resistance to endocrine therapy in PIK3CAm luminal BC. We need larger studies to evaluate the role of liquid biopsy in the detection of PIK3CAm.
Clinical
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HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • KIT (KIT proto-oncogene, receptor tyrosine kinase)
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HER-2 negative • PIK3CA mutation • KIT mutation • PIK3CA E545 • PIK3CA E542
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cobas® PIK3CA Mutation Test
1year
Alpelisib/iNOS Inhibitor/Nab-paclitaxel in Patients With HER2 Negative Metaplastic Breast Cancer (MpBC) (clinicaltrials.gov)
P2, N=36, Recruiting, The Methodist Hospital Research Institute | Not yet recruiting --> Recruiting
Enrollment open • Metastases
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HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
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HER-2 negative • PIK3CA mutation • PIK3CA E545 • PIK3CA E542
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Piqray (alpelisib) • albumin-bound paclitaxel • tilarginine (L-NMMA)
1year
Concordance of Actionable Mutations in Liquid Biopsies and Matched Tumor Tissue of Brazilian Non-small Cell Lung Cancer (NSCLC) (LALCA 2023)
The NGS panel could successfully detect actionable mutations in liquid biopsies with a high concordance rate and sensitivity. The detection of variants in cfDNA, but not in tDNA, suggests a greater representativeness of the mutational tumor spectrum in samples of liquid biopsies opening perspectives for employing this approach in the routing setting. The NGS assay for liquid biopsy may decrease tissue biopsies and turnaround time for report release, accelerating therapeutic strategies for NSCLC patients.
Liquid biopsy • Biopsy • Discordant
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MAP2K1 (Mitogen-activated protein kinase kinase 1)
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KRAS G12C • EGFR T790M • KRAS G12D • KRAS G12V • KRAS G13D • KRAS G12 • PIK3CA E542K • KRAS G13 • TP53 R175H • KRAS Q61H • ALK R1275Q • BRAF G469A • EGFR E709K • MAP2K1 P124Q • PIK3CA E542 • TP53 R248Q • TP53 Y220C • EGFR E746 • MAP2K1 E203K • MAP2K1 P124 • TP53 R273C
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Oncomine™ Lung cfDNA Assay
1year
Trial completion date • Trial primary completion date • Checkpoint inhibition • IO biomarker • Metastases
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PD-L1 (Programmed death ligand 1) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog)
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PIK3CA mutation • PTEN mutation • PIK3CA E545 • PIK3CA H1047 • PIK3CA E542
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Opdivo (nivolumab) • Yervoy (ipilimumab) • Aliqopa (copanlisib)
1year
PIK3CA Hotspot Mutation in Squamous Cell Carcinoma of the Uterine Cervix: A Single Institution Study (USCAP 2023)
Our study further demonstrates frequent activation of PIK3CA pathway in the oncogenesis of cervical squamous cell carcinoma, indicating a therapeutic potential by directly targeting PI3K. The impact of PIK3CA mutation on survival outcomes of patients with cervical cancer in our institution is under investigation.
Clinical
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PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
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PIK3CA mutation • PIK3CA H1047R • PIK3CA E545K • PIK3CA E545 • PIK3CA E542