bims-p53act Biomed News
on p53 mutations and anti-cancer therapy response
Issue of 2025–12–07
eight papers selected by
Toni Martínez Bernabé, Universitat de les Illes Balears



  1. Cell Mol Life Sci. 2025 Dec 01.
      
    Keywords:  Gain-of-function; Mutant p53; Organoid; Pancreatic cancer; Subtype
    DOI:  https://doi.org/10.1007/s00018-025-05945-w
  2. J Obstet Gynaecol Res. 2025 Dec;51(12): e70151
       BACKGROUND: Ovarian cancers have been the most lethal gynecologic malignancies worldwide, with survival outcomes remaining poor despite therapeutic advances. Since TP53 is the most frequently mutated gene in ovarian cancers, it highlights the central role of p53 dysfunction in promoting tumor initiation, genomic instability, and progression. Beyond classical loss of transcriptional activity, mutant p53 may exert dominant-negative effects on residual wild-type protein and acquire oncogenic gain-of-function properties that promote invasion, metastasis, and resistance to chemotherapy. Nevertheless, despite extensive efforts, effective therapeutic agents targeting TP53-mutant tumors remain elusive, representing a major unmet medical need.
    METHODS: The published articles were reviewed.
    RESULTS: To detect the TP53 mutations, driven by recent technological innovations, circulating tumor DNA has emerged as a powerful and minimally invasive biomarker that enables the detection of gene mutations and the real-time monitoring of tumor evolution, minimal residual disease, and therapeutic resistance. Bridging diagnostics and therapy, recent discoveries highlight that cytoplasmic p53 aggregates as a clinically adverse phenotype in high-grade serous ovarian cancers, elucidating mechanisms of aggregate formation and propagation. By restoring p53 conformation and transcriptional activity through distinct molecular mechanisms, pharmacologic reactivation of mutant p53 holds promise as a novel therapeutic strategy.
    CONCLUSION: These advances indicate that TP53 disruption, once deemed untargetable, may become a new cornerstone of precision oncology in ovarian cancer.
    Keywords:  ovarian cancer; p53; protein aggregate
    DOI:  https://doi.org/10.1111/jog.70151
  3. Front Oncol. 2025 ;15 1605080
      Osteosarcoma (OS), the most common primary malignant bone tumor, remains a therapeutic challenge because of its high metastatic potential, chemoresistance, and poor prognosis. Mutations in the TP53 tumor suppressor gene, including loss-of-function (LOF) and gain-of-function (GOF) mutations, play a central role in OS progression by disrupting cell cycle regulation, DNA repair, and apoptosis and promoting immune evasion and metabolic reprogramming. This review provides an in-depth analysis of p53 biology in OS, highlighting its impact on therapeutic resistance and tumor progression. We discuss advancements in radiotherapy, chemotherapy, and immunotherapy, emphasizing strategies targeting mutant TP53 and its associated pathways. Emerging approaches, including metabolic reprogramming, noncoding RNA regulation, and precision biomarkers such as miRNAs and histone modifications, offer promising tools for diagnosis, risk stratification, and treatment optimization. By linking the molecular mechanisms of p53 with novel therapeutic strategies, this review underscores opportunities for translational research aimed at improving the clinical outcomes of OS patients.
    Keywords:  TP53; molecular mechanism; mutation; osteosarcoma; p53
    DOI:  https://doi.org/10.3389/fonc.2025.1605080
  4. Oncologist. 2025 Dec 03. pii: oyaf400. [Epub ahead of print]
       BACKGROUND: Mutations in TP53 are common in gastroesophageal cancer and portend a poor prognosis. Tumor cells with TP53 mutations increasingly rely on ataxia-telangiectasia and Rad3-related (ATR) protein to respond to and repair DNA damage induced by cytotoxic chemotherapy. We aimed to assess the efficacy of ATR inhibitor, berzosertib, with irinotecan in patients harboring TP53-mutated, metastatic gastroesophageal cancer.
    METHODS: NCI 10211 is a phase II trial that enrolled patients with TP53-mutated, unresectable or metastatic gastroesophageal adenocarcinoma to receive berzosertib with irinotecan on day 1, 15 in 28-day cycles. Initially, patients who had progressed on at least one prior line of therapy were enrolled which was later amended to at least two prior lines of therapy. The primary outcome was objective response rate (ORR), and secondary outcomes included progression free survival (PFS) and overall survival (OS). Nine patients underwent biopsy for correlative studies, which included assay evaluation of ℽH2AX, NBS1, and KAP1 p-Ser 824 expression.
    RESULTS: Of the 17 patients enrolled, 16 were evaluable for the primary endpoint of ORR. The ORR was 0%, disease control rate (DCR) of 56.2%, median progression free survival (mPFS) of 4.01 months, and median overall survival (mOS) of 6.21 months. The study did not meet its primary endpoint. The most common treatment-related adverse events were nausea (52.9%), anemia (41.2%), diarrhea (41.2%), and lymphopenia (41.2%) without any unexpected adverse events.
    CONCLUSION: This novel combination of ATR inhibitor berzosertib with irinotecan did not lead to objective responses in patients with TP53-mutated, advanced gastroesophageal adenocarcinoma. The combination regimen was well tolerated without unexpected adverse events. This trial was registered with ClinicalTrials.gov (NCT03641313).
    Keywords:  ATR inhibition; DNA damage repair; TP53 mutation; gastroesophageal cancer
    DOI:  https://doi.org/10.1093/oncolo/oyaf400
  5. Oral Oncol. 2025 Nov 29. pii: S1368-8375(25)00628-1. [Epub ahead of print]172 107799
      Head and neck squamous cell carcinoma (HNSCC) is characterized by frequentTP53mutations, which include gain-of-function (GOF) variants that drive tumor progression and chemoresistance. While genomic evidence across multiple specimens ranging from oral pre-malignant lesions (OPL) through invasive and metastatic HNSCC indicates that TP53 loss or mutation occurs relatively early in HNSCC carcinogenesis, it has been difficult to discern how mutation of this tumor suppressor drives further tumor cell evolution and influences the tumor microenvironment to drive tumor progression. To address this question, we generated an immortalized human oral keratinocyte (iHOK) cell line expressing wt TP53 as well as TP53 mutant forms to determine how mutations impact functional and genomic characteristics of HOKs that can in turn drive their evolution to neoplastic cells. We established a novel panel of iHOK cell lines harboring distinctTP53mutations, including the high-risk C238F variant. Key results revealed significant phenotypic and molecular divergence: high-risk lines exhibited enhanced invasiveness and chemoresistance compared to low-risk counterparts. Weighted gene co-expression network analysis (WGCNA) linked high-risk mutations to pro-metastatic pathways and stress-response signatures, with the C238F line uniquely enriched for p53-related GOF mechanisms. Conversely, low-risk lines remained chemosensitive. These findings underscore the clinical relevance of mutation-specific iHOK models in determining the transcriptomic events that drive invasiveness and drug resistance and identify ways to intercept these phenotypes. By mirroring theTP53diversity observed in patient tumors, this cell line panel bridges a critical gap in head and neck carcinogenesis research, enabling mechanistic dissection of GOF phenotypes and preclinical evaluation of therapies in an array of TP53mutant cell models. Its significance lies in providing a validated, annotated resource that accelerates drug discovery and clarifies the role ofTP53mutational subtypes in HNSCC development and progression, offering a framework for future translational studies in genetically complex malignancies.
    Keywords:  Gain-of-function; Immortalized human oral keratinocyte (iHOK); Oral keratinocyte; RNA-seq; TP53 Mutations; Weighted gene co-expression network analysis (WGCNA); p53
    DOI:  https://doi.org/10.1016/j.oraloncology.2025.107799
  6. Adv Sci (Weinh). 2025 Nov 30. e12074
      ARID1A, a component of the SWI/SNF tumor suppressor complex, is frequently mutated in colorectal cancers (CRC). Here, it is found that CRC with ARID1A/TP53 concurrent mutations is highly sensitive to WEE1 inhibitors. ARID1A deficiency promoted the accumulation of R-loops, leading to replication stress. This stress, combined with the loss of G1/S and G2/M checkpoint controls due to P53 and WEE1 dysfunction, resulted in substantial DNA damage. Through chromatin accessibility sequencing, it is further revealed that ARID1A loss impaired ATF3 transcription, thereby exacerbating WEE1-inhibitor-induced DNA damage and cell death. This preclinical evidence is supported by a phase 1b/2 trial of WEE1-inhibitor-based therapy in metastatic CRC patients (NCT06363552), where one patient harboring ARID1A/TP53 concurrent mutations achieved liver lesion regression. Moreover, though CRISPR knockout screening, it is found that concurrent AKT blockade significantly augmented the antitumor effects of the WEE1 inhibitor. In conclusion, WEE1 inhibition offers a promising therapeutic strategy for ARID1A/TP53 concurrent mutant CRC.
    Keywords:  DNA damage repair; R‐loop; WEE1 inhibitors; colorectal cancer
    DOI:  https://doi.org/10.1002/advs.202512074
  7. J Obstet Gynaecol Res. 2025 Dec;51(12): e70162
       AIM: This study aimed to evaluate the correlations between programmed death-ligand 1 (PD-L1) expression, the mismatch repair system, and p53 status in endometrial cancer, considering tumor stage.
    METHODS: A retrospective analysis of clinicopathological and immunohistochemical data was conducted on 254 patients treated at Holy Cross Cancer Centre (Poland). The majority of patients had endometrioid adenocarcinoma (89.8%) and FIGO stage I disease (69.7%).
    RESULTS: Positive PD-L1 expression (threshold ≥ 1%) was observed in only 3.9% of cases, while mismatch repair system deficiency and aberrant p53 expression were present in 18.1% and 17.3%, respectively. No significant correlations were found between PD-L1 expression and clinicopathological parameters, repair system status, or p53 (p = 0.328 and p = 0.359, respectively). However, a significant association (p = 0.046) was noted between PD-L1 positivity and the microsatellite-unstable/hypermutated molecular subtype, with 30% of PD-L1 positive tumors exhibiting this subtype compared to 10.2% of PD-L1 negative tumors.
    CONCLUSIONS: No molecular marker demonstrated a significant association with recurrence risk (p > 0.05), in contrast to the FIGO stage, which showed a significant correlation (p < 0.001). Although PD-L1 expression was rare, it was significantly associated with microsatellite instability, highlighting the potential of molecular classification to identify candidates for immunotherapy. However, the low frequency of PD-L1 positivity and the small sample size warrant caution in interpreting these findings, and further research is needed to confirm the clinical relevance of PD-L1 in endometrial cancer.
    Keywords:  immune response; lymphovascular invasion; personalized therapy; response to immunotherapy; tumor cells
    DOI:  https://doi.org/10.1111/jog.70162
  8. PLoS One. 2025 ;20(12): e0320036
      We identified a germline TP53 c.758C > T (p.T253I) mutation in the TP53 tumor suppressor gene in a pediatric adrenocortical carcinoma (ACC) patient. Characteristic of pathogenic p53 mutations, we observed upregulation of total p53 protein levels in the patient's ACC and concurrent suppression of the wild-type (WT) TP53 allele. As ACC can be associated with Li-Fraumeni Syndrome (LFS) and the mutation has not yet been linked to LFS, we sought to characterize the functionality of the T253I mutation. We acquired p53-/- HEK293 cells and stably transduced them with GFP-tagged wild type (T253) or T253I p53 as well as two established pathogenic p53 mutants (C176Y and R213X). Compared to p53 WT, levels of T253I p53 increased while MDM2 levels decreased, suggesting a loss of MDM2-mediated regulation of T253I p53. Additionally, T253I showed a reduction in DNA damage responsive events, diminished DNA binding capabilities, and blunted transactivation capacity. These experimental data lead us to conclude that T253I represents a pathologic variant in TP53 that may predispose to LFS-associated tumors.
    DOI:  https://doi.org/10.1371/journal.pone.0320036