ATM mutation

NFE2 gene mutations in MPNs were predominantly frameshift mutations. NFE2 gene mutations were correlated with older age, elevated levels of several inflammatory factors (including TNF-α、IFN-γ、IL-10、IL-12P70、IL-17) , and they mostly occurred in late-stage of MPNs.

We further explore the interplay of DDR inhibition with androgen receptor (AR) signaling and its ability to potentiate antitumor immunity through activation of the cGAS-STING pathway, type I interferon production, and regulation of immune checkpoints. By leveraging insights into DDR mechanisms and therapeutic opportunities, this review provides a comprehensive perspective to enhance RT efficacy and improve clinical outcomes in PCa patients.

Therapeutic annotation using OncoKB identified 223 actionable or likely oncogenic variants, highlighting potential targets for precision oncology. This study provides a comprehensive characterization of the breast cancer mutational landscape in MENA patients and offers a valuable resource for advancing genomic and therapeutic research in this demographic.

Using a 73-gene panel, we characterized the molecular characteristics of GISTs and revealed a correlation with their clinical features. Moreover, KIT/PDGFRA-dependent and KIT/PDGFRA-independent mechanisms underlying resistance to imatinib were explored. Overall, our 73-gene panel is sufficient for clinical application in cases of GISTs.

WES of ctDNA uncovers extensive ITH and identifies molecular drivers of resistance not captured by tissue biopsies. These findings support the use of plasma ctDNA analysis to monitor tumor evolution and personalize follow-up in LA-HNSCC, especially given the anatomical complexity that often limits repeated tissue sampling.

In this study we report the frequency of pathogenic/likely pathogenic (P/LP) germline variants in Indian patients with NSCLC with significant family history of cancer to be 16.5%. It suggests the potential utility of genetic testing to guide targeted screening strategies in this high-risk population.

Standard therapies include alemtuzumab-based regimens and hematopoietic stem cell transplantation, although relapse rates remain high. This case underscores the need to recognize indolent presentations of T-cell prolymphocytic leukemia that may be managed conservatively. Further research is required to identify prognostic markers and optimize therapeutic strategies.

© 2025 The Author(s). The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland

A 54-year-old woman was diagnosed with stage IIIB HER2-positive invasive breast cancer in 2017 and treated with neoadjuvant chemotherapy (TAC), modified radical mastectomy, radiotherapy, trastuzumab, and toremifene...It suggests that VUS in genes involved in cellular stress and metabolic pathways, particularly in combination with TP53 mutations, may contribute to the development of multiple primary malignancies. Furthermore, it underscores the importance of vigilant, phenotype-driven long-term surveillance in such patients, regardless of germline testing results.

P1/2, N=84, Recruiting, Memorial Sloan Kettering Cancer Center | Trial completion date: Sep 2025 --> Sep 2026 | Trial primary completion date: Sep 2025 --> Sep 2026

This case highlights the diagnostic and therapeutic challenges associated with MFS, emphasizing the need for improved molecular characterization and novel therapeutic strategies. While current treatments provide limited durable control, emerging insights into the tumor's genetic and immune landscape offer hope for more effective, personalized approaches.

TP53 alterations are consistently associated with poor prognosis, whereas ATM mutations correlate with improved outcomes following rituximab-based chemotherapy...Functional analysis shows that p53 represses BCR signaling through PTPN6 activation. Collectively, these findings highlight distinct molecular and immune landscapes and reveal therapeutic vulnerabilities in high-risk TP53-perturbed MCL.