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    BIOMARKER:

    PTEN mutation

    i
    Other names: 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, CWS1, GLM2, MHAM
    Entrez ID:
    5728
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    1d
    Repurposing drugs for treating the neurobehavioral manifestations of PTEN hamartoma tumor syndrome. (PubMed, iScience)
    A final number of six compounds, with promising potency and propensity to cross the blood-brain-barrier, were tested in vivo in pharmacokinetic and proof-of-principle pharmacodynamic studies, and we observed that dual PI3K/mTOR inhibitors achieve effects comparable to or even surpassing those of standard mTOR inhibitors. In summary, our study showcases a combination of in vitro models providing a valid strategy for identifying drug-repurposing candidates to treat PHTS patients.
    Journal
    |
    PTEN (Phosphatase and tensin homolog)
    |
    PTEN mutation
    1d
    The use of cell-free DNA (cfDNA)/circulating tumor DNA (ctDNA) to guide treatment selection in metastatic breast cancer. (PubMed, Pharmacogenomics)
    Actionable genomic mutations such as PIK3CA, ESR1, ERBB2, BRCA1/2, and AKT/PTEN are reviewed in relation to their corresponding therapeutic agents. Implementation challenges, pre-analysis pitfalls, uncertain sampling cadence, cost barriers, and disparities in access are discussed, along with potential solutions.
    Review • Journal • BRCA Biomarker • Circulating tumor DNA
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • 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)
    |
    BRCA2 mutation • BRCA1 mutation • PIK3CA mutation • HER-2 mutation • PTEN mutation
    5d
    Solid Pseudopapillary Neoplasms (SPNs) of the Pancreas: Appraisal of Contemporary Clinicopathologic Features - Clinical Implications and Surgical Outcomes of Patients Treated and Followed at a Single Institution. (PubMed, J Surg Oncol)
    Patients with solid pseudopapillary neoplasms had a favorable oncologic outcome. Recurrence/metachronous metastasis occurred in older patients with larger tumors, each containing a pathogenic co-mutation, and one patient experiencing traumatic tumor rupture.
    Journal
    |
    TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)
    |
    TP53 mutation • PTEN mutation
    8d
    A Study of 177Lu-DTPA-SC16.56 in People With Neuroendocrine Carcinomas of the Lung and Prostate (clinicaltrials.gov)
    P1, N=12, Not yet recruiting, Memorial Sloan Kettering Cancer Center | Initiation date: Mar 2026 --> Jun 2026
    Trial initiation date
    |
    PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • DLL3 (Delta Like Canonical Notch Ligand 3)
    |
    TP53 mutation • PTEN mutation • RB1 mutation • DLL3 expression
    9d
    Inavolisib for PIK3CA Mutated Advanced Endometrial Cancer: MITO END-4 (clinicaltrials.gov)
    P2, N=48, Not yet recruiting, National Cancer Institute, Naples
    New P2 trial
    |
    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PGR (Progesterone receptor) • PTEN (Phosphatase and tensin homolog)
    |
    PIK3CA mutation • PTEN mutation
    |
    Itovebi (inavolisib)
    10d
    Integrative multi-omic analysis identified ERBB2 mutations and senescence-driven immune suppression as dual therapeutic targets in LAR triple-negative breast cancer. (PubMed, Cancer Biol Med)
    The LAR subtype harbors two therapeutic vulnerabilities: ERBB2 mutation-driven kinase activation; and senescence-mediated immune evasion. The LAR-S signature enables precise patient stratification and supports senescence-targeted and immunotherapy combination strategies as promising approaches for this refractory TNBC subtype.
    Journal • PD(L)-1 Biomarker • IO biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • AR (Androgen receptor)
    |
    PIK3CA mutation • HER-2 mutation • PTEN mutation
    |
    Nerlynx (neratinib)
    11d
    Endocrine and metabolic features of PTEN hamartoma tumor syndrome in childhood: a pediatric case series. (PubMed, J Pediatr Endocrinol Metab)
    This report highlights the heterogeneous pediatric phenotype of PHTS and draws attention to the non-tumoral manifestations of PTEN mutations, including abnormalities in glucose metabolism, growth axis, and neurodevelopment. Early diagnosis and multidisciplinary follow-up are essential to prevent potential complications.
    Journal
    |
    PTEN (Phosphatase and tensin homolog)
    |
    PTEN mutation
    13d
    Clinicogenomic Landscape and Function of PIK3CA, AKT1, and PTEN Mutations in Breast Cancer. (PubMed, JCO Precis Oncol)
    Here, we present the landscape of PIK3CA, AKT1, and PTEN alterations in, to our knowledge, the largest clinical cohort examined to date. The functional complexity of rare PTEN variants underscores the need for functional validation by tools such as DMS. Rare AKT pathway variants may predict clinical benefit from AKT inhibitors and warrant further clinical investigation.
    Journal
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • AKT1 (V-akt murine thymoma viral oncogene homolog 1)
    |
    PIK3CA mutation • PTEN mutation • AKT1 mutation
    |
    FoundationOne® CDx
    |
    fulvestrant • Truqap (capivasertib)
    13d
    POU2F3 in SCLC: Diagnostic Utility in Neuroendocrine Low/Negative SCLC and Discrimination From Other Thoracic Malignancies and Other Small Blue Round Cell Tumors. (PubMed, Lab Invest)
    This study establishes POU2F3 as a critical diagnostic biomarker for neuroendocrine-low/negative SCLC, demonstrating high specificity in distinguishing SCLC-P from other thoracic malignancies and small blue round cell tumors. We delineate the distinct clinicopathological-genomic profile of POU2F3-driven SCLC (SCLC-P), providing a foundation for its diagnostic application. Further validation in expanded cohorts is warranted to confirm its clinical utility.
    Journal
    |
    TP53 (Tumor protein P53) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • NCAM1 (Neural cell adhesion molecule 1) • POU2F3 (POU Class 2 Homeobox 3) • SYP (Synaptophysin)
    |
    TP53 mutation • PTEN mutation • RB1 mutation
    14d
    Immunohistochemical and molecular profiling of uveal melanoma: clinicopathological correlations from an Italian cohort. (PubMed, Pathologica)
    This study highlights the heterogeneous molecular landscape of UM and underscores the importance of integrating histopathological and molecular data for improved prognostic stratification. The identification of potential therapeutic targets and atypical mutations typically associated with other melanoma subtypes suggests avenues for future research and tailored therapeutic strategies.
    Retrospective data • Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • BRAF (B-raf proto-oncogene) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NOTCH1 (Notch 1) • GNAQ (G Protein Subunit Alpha Q) • KDR (Kinase insert domain receptor) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11) • JAK3 (Janus Kinase 3) • H3-3A (H3.3 Histone A)
    |
    PD-L1 expression • TP53 mutation • TMB-H • BRAF mutation • PTEN mutation
    14d
    Next-generation sequencing methodologies to identify patients for targeted therapy: focus on HR+/HER2- metastatic breast cancer. (PubMed, Pathologica)
    In this review, we discuss the clinical and biological significance of PI3K pathway alterations in HR+/HER2- mBC, focusing on tumors that progress following endocrine therapy and CDK4/6 inhibitor treatment. We then highlight how different diagnostic strategies, including sample type, testing methodology, and timing, can improve the identification of patients who are eligible for targeted therapies and promote the effective integration of molecular diagnostics into routine clinical care.
    Review • Journal • Next-generation sequencing
    |
    HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • AKT1 (V-akt murine thymoma viral oncogene homolog 1)
    |
    HR positive • HER-2 negative • PIK3CA mutation • PTEN mutation • AKT1 mutation • HR positive + HER-2 negative
    15d
    Molecular and Clinicopathologic Features Associated With FOLR1 Expression in Gynecologic Malignancies. (PubMed, Int J Gynecol Pathol)
    Endometrial tumors with FOLR1 overexpression had a significantly higher rate of TP53 mutations (P=0.013), while all endometrial tumors with PTEN alterations were negative for FOLR1 (P=0.037). Overall, FOLR1 overexpression was associated with poor prognostic factors, such as advanced clinical stage, increased recurrence rate, higher pathologic T and N stage, poor histologic grade, larger tumor size, lymphovascular invasion, uterine serosa involvement, and shorter progression-free survival.
    Journal • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • FOLR1 ( Folate receptor alpha )
    |
    PD-L1 expression • TP53 mutation • PTEN mutation • FOLR1 expression • FOLR1 overexpression • FOLR1 positive