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    BIOMARKER:

    PIK3R1 mutation

    i
    Other names: PIK3R1, Phosphoinositide-3-Kinase Regulatory Subunit 1, Phosphatidylinositol 3-Kinase 85 KDa Regulatory Subunit Alpha, Phosphoinositide-3-Kinase, Regulatory Subunit 1 (Alpha), Phosphatidylinositol 3-Kinase Regulatory Subunit Alpha, Phosphoinositide-3-Kinase Regulatory Subunit Alpha, PtdIns-3-Kinase Regulatory Subunit Alpha, PI3K Regulatory Subunit Alpha, PI3-Kinase Subunit P85-Alpha, GRB1, Phosphatidylinositol 3-Kinase, Regulatory Subunit, Polypeptide 1 (P85 Alpha), Phosphatidylinositol 3-Kinase
    Entrez ID:
    5295
    Related biomarkers:
    Expression
    Mutation
    Others
    11ms
    Ipsilateral Breast Carcinoma Recurrence: True Recurrence or New Primary? A Clinicopathologic and Molecular Study. (PubMed, Am J Surg Pathol)
    Although 41.7% of recurrences showed private mutations or amplifications relevant to tumor progression, such as PIK3CA, PIK3R1, MAP3K1, AKT1, GATA3, CCND1, MDM4, or T P 5 3; a common mutational progression pattern was not identified. Further studies, including larger series, are necessary to evaluate the prognostic significance of the molecular classification of recurrences.
    Journal
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • CCND1 (Cyclin D1) • MDM4 (The mouse double minute 4) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • GATA3 (GATA binding protein 3)
    |
    PIK3CA mutation • PIK3R1 mutation
    12ms
    Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era. (PubMed, J Clin Immunol)
    This study underscores the clinical heterogeneity and challenging diagnosis of APDS, highlighting the importance of multidisciplinary management tailored to individual needs and further supporting leniolisib efficacy.
    Journal
    |
    PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • PIK3CD (Phosphatidylinositol-4 5-Bisphosphate 3-Kinase Catalytic Subunit Delta)
    |
    PIK3R1 mutation • PIK3CD mutation
    |
    sirolimus
    12ms
    Landscape and prognostic significance of oncogene drivers in metastatic castration sensitive prostate cancer. (PubMed, Transl Cancer Res)
    Oncogenes are frequency mutated in mCSPC and associated with aggressive features and inferior outcomes. Future work will need to validate these results to better assess its significance in allowing for personalization of care.
    Journal • Metastases
    |
    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) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • FGFR2 (Fibroblast growth factor receptor 2) • FGFR1 (Fibroblast growth factor receptor 1) • HRAS (Harvey rat sarcoma viral oncogene homolog) • NOTCH1 (Notch 1) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • CCND1 (Cyclin D1) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • MITF (Melanocyte Inducing Transcription Factor)
    |
    KRAS mutation • EGFR mutation • BRAF mutation • FGFR2 mutation • ALK mutation • AKT1 mutation • PIK3R1 mutation
    12ms
    Pediatric Patients Aged 1 to 6 Years with APDS (clinicaltrials.gov)
    P3, N=15, Recruiting, Pharming Technologies B.V. | Trial completion date: Nov 2025 --> Feb 2026
    Trial completion date
    |
    PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • PIK3CD (Phosphatidylinositol-4 5-Bisphosphate 3-Kinase Catalytic Subunit Delta)
    |
    PIK3R1 mutation
    1year
    Genomic and transcriptomic analyses of residual invasive triple-neg breast cancer after neoadjuvant chemotherapy in prospective MIRINAE trial (a randomized phase II trial of adjuvant atezolizumab + capecitabine versus capecitabine; KCSG-BR18-21). (SABCS 2024)
    TIL-high tumors were associated with immune-enriched cancer including BLIA and TME subtypes. Ongoing analysis of invasive disease-free survival as the primary endpoint in each arm of MIRINAE trial and the role of atezolizumab in association with genomic features will provide deeper insights into the role of ICIs as adjuvant therapy.
    P2 data • Clinical • PD(L)-1 Biomarker • BRCA Biomarker • IO biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • AR (Androgen receptor) • HRD (Homologous Recombination Deficiency) • CD8 (cluster of differentiation 8) • PALB2 (Partner and localizer of BRCA2) • IFNG (Interferon, gamma) • LAG3 (Lymphocyte Activating 3) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • CXCL9 (Chemokine (C-X-C motif) ligand 9) • CD4 (CD4 Molecule) • CXCL13 (Chemokine (C-X-C motif) ligand 13) • IRF4 (Interferon regulatory factor 4) • CD3D (CD3d Molecule) • GZMK (Granzyme K) • NDRG1 (N-Myc Downstream Regulated 1)
    |
    TP53 mutation • BRCA1 mutation • PIK3CA mutation • PALB2 mutation • PIK3R1 mutation
    |
    FoundationOne® CDx • Prosigna™ Breast Cancer Prognostic Gene Signature Assay
    |
    Tecentriq (atezolizumab) • capecitabine
    1year
    Clinical sequencing reveals diagnostic, therapeutic, and prognostic biomarkers for adult-type diffuse gliomas. (PubMed, Heliyon)
    AEBP1 amplification was associated with shorter OS in GBM. Our study suggests that clinical sequencing can recapitulate previous findings, which may provide a powerful approach to discover diagnostic, therapeutic and prognostic markers for precision medicine in adult-type diffuse gliomas.
    Journal
    |
    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • ATRX (ATRX Chromatin Remodeler) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • AEBP1 (AE Binding Protein 1)
    |
    TP53 mutation • PIK3CA mutation • IDH wild-type • PIK3R1 mutation
    1year
    A single center experience on PI3K/AKT/MTOR signaling defects: Towards pathogenicity assessment for four novel defects. (PubMed, Pediatr Allergy Immunol)
    Differential diagnosis with combined immunodeficiency and diseases of immune dysregulation make molecular genetic analysis crucial for diagnosing mTOR pathway defects. It is easy to differentiate APDS and homozygous PIK3R1 defects with specific laboratory features. Additionally, mTOR pathway functional analysis is a definitive diagnostic and pathogenicity assessment tool for novel APDS mutations.
    Journal
    |
    PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • PIK3CD (Phosphatidylinositol-4 5-Bisphosphate 3-Kinase Catalytic Subunit Delta) • CD4 (CD4 Molecule)
    |
    PIK3R1 mutation • PIK3CD mutation
    1year
    Study of Ribociclib and Everolimus in HGG and DIPG (clinicaltrials.gov)
    P2, N=100, Recruiting, Nationwide Children's Hospital | Not yet recruiting --> Recruiting
    Enrollment open
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • CCND1 (Cyclin D1) • CDK4 (Cyclin-dependent kinase 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • CDK6 (Cyclin-dependent kinase 6) • CCND2 (Cyclin D2) • CDKN2C (Cyclin Dependent Kinase Inhibitor 2C)
    |
    PIK3CA mutation • PTEN mutation • CDKN2A deletion • PIK3CA amplification • CCND1 amplification • CDK4 amplification • PIK3R1 mutation
    |
    everolimus • Kisqali (ribociclib)
    over1year
    Superselective Intra-arterial Cerebral Infusion of Temsirolimus in HGG (clinicaltrials.gov)
    P1, N=12, Recruiting, Nader Sanai | Trial completion date: Apr 2025 --> Apr 2026 | Trial primary completion date: Apr 2024 --> Apr 2025
    Trial completion date • Trial primary completion date
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • mTOR (Mechanistic target of rapamycin kinase) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • PIK3C2B (Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Beta)
    |
    PIK3CA mutation • MTOR mutation • PIK3CA mutation + PTEN mutation • PIK3R1 mutation
    |
    Torisel (temsirolimus)
    over1year
    Plasmacytoid Urothelial Carcinoma of the Urinary Bladder - a Clinicopathological and Molecular Analysis of 52 Cases. (PubMed, Hum Pathol)
    Plasmacytoid UC is an aggressive histologic subtype that demonstrates frequent somatic gene mutations and CNVs, which may underlie its oncogenesis and progression. Gene mutations of the mTOR pathway are associated with poor outcome in a subset of patients with plasmacytoid UC.
    Journal
    |
    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • TERT (Telomerase Reverse Transcriptase) • CDH1 (Cadherin 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
    |
    TP53 mutation • HER-2 overexpression • MTOR mutation • PIK3R1 mutation
    over1year
    Study of Ribociclib and Everolimus in HGG and DIPG (clinicaltrials.gov)
    P2, N=100, Not yet recruiting, Nationwide Children's Hospital | Trial completion date: Jan 2034 --> May 2034 | Initiation date: Jan 2024 --> May 2024 | Trial primary completion date: Jan 2028 --> May 2028
    Trial completion date • Trial initiation date • Trial primary completion date
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • CCND1 (Cyclin D1) • CDK4 (Cyclin-dependent kinase 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • CDK6 (Cyclin-dependent kinase 6) • CCND2 (Cyclin D2) • CDKN2C (Cyclin Dependent Kinase Inhibitor 2C)
    |
    PIK3CA mutation • PTEN mutation • CDKN2A deletion • PIK3CA amplification • CCND1 amplification • CDK4 amplification • PIK3R1 mutation
    |
    everolimus • Kisqali (ribociclib)
    almost2years
    Clinicopathological analysis of rosette-forming glioneuronal tumors. (PubMed, Diagn Pathol)
    RGNT is a comparatively rare mixed glioneuronal tumor that occurs in the midline structures. Its morphology shows certain overlaps with other low-grade neuroepithelial tumors. Identifying the rosettes around the neuropil is critical for morphological diagnosis, and the molecular identification of FGFR1 mutations accompanied by PIK3R1 mutations can facilitate diagnosis.
    Journal
    |
    FGFR1 (Fibroblast growth factor receptor 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • GFAP (Glial Fibrillary Acidic Protein) • OLIG2 (Oligodendrocyte Transcription Factor 2)
    |
    FGFR1 mutation • PIK3R1 mutation