PTEN mutation

Fusion transcript analysis identified 91 recurrent fusions, including novel partners with ERBB2, MED1, and CDK12, suggesting the possibility of unique molecular events. Interpretation and conclusions This study demonstrates that Indian breast cancer patients exhibit molecular subtypes and actionable mutations comparable to Caucasian cohorts.

The results of this real-world study demonstrate that endometrial cancer is a complex disease, characterized by substantial molecular heterogeneity and varying biomarker distributions across histology, stages, and molecular subtypes. This real-world study supports the integration of comprehensive molecular profiling into routine practice to refine prognostic stratification and guide biomarker-driven therapies.

Pathway analysis revealed predominant WNT/β-catenin signaling in EBTs versus RAS-MEK-ERK pathway alterations in SMBTs resembling the seromucinous variant of ovarian endometrioid carcinoma, with additional involvement of PI3K-PTEN-AKT-mTOR and SWI/SNF chromatin remodeling pathways in both. These findings demonstrate that EBTs and SMBTs possess distinct morphologic and molecular profiles, expanding the molecular characterization of early ovarian endometrioid-type neoplasms.

P3, N=256, Active, not recruiting, Laekna Limited | Recruiting --> Active, not recruiting

P1/2, N=30, Recruiting, M.D. Anderson Cancer Center | Suspended --> Recruiting

Notably, these compounds also inhibited the growth of several human PCa cell lines and displayed synergistic effects when combined with the standard-of-care antiandrogen enzalutamide. Together, our findings provide evidence that murine tumoroids are versatile preclinical models for studying PCa tumorigenesis and drug sensitivities to develop therapeutic options for PCa patients.

Due to the low mutation frequency of commonly studied genes, cumulative mutational burden may better explain the progression and pathogenesis of endometriosis-associated epithelial ovarian carcinoma than any single mutation. CTNNB1 may be associated with the development of endometrioid ovarian carcinoma. Future studies may consider the use of polygenic scores for risk assessment of endometriosis-associated ovarian cancer.

Our findings indicate that while the overall somatic mutational load in BCa does not differ significantly with age, specific molecular alterations-particularly the enrichment of PIK3CA mutations in elderly patients-underscore the importance of integrating genomic profiling into personalized treatment planning. This study represents the first comprehensive molecular characterization of geriatric BCa patients in Türkiye, providing valuable insights for age-specific genetic profiling, treatment optimization, and future multicenter translational studies.

P2, N=137, Active, not recruiting, Canadian Cancer Trials Group | Trial completion date: Dec 2025 --> Jun 2026

This case illustrates the characteristic clinicopathological and molecular features of CMMRD-associated pediatric high-grade glioma and underscores the critical role of routine mismatch repair immunohistochemistry. Integrated histological and genomic evaluation is essential for accurate diagnosis, appropriate genetic counseling, and potential therapeutic implications. Key Points • This case represents a pediatric high-grade glioma arising in the setting of PMS2-related constitutional mismatch repair deficiency (CMMRD). • The tumor exhibited an ultra-hypermutated profile with co-occurring TP53, PIK3CA, PIK3R1, and PTEN mutations. • Loss of PMS2 expression in both tumor and non-neoplastic cells was critical in establishing the diagnosis of CMMRD. • The presence of a developmental venous anomaly may relate to underlying PIK3R1 pathway alterations. • Routine mismatch repair immunohistochemistry is essential in pediatric high-grade gliomas, even in the absence of a family history.

This study shows that DMDTCs are characterized by dysregulated phosphorylation signalling, accompanied by chromosomal instability and aberrant methylation, thus underscoring DDR gene-targeted therapy as a promising strategy.

Patient characteristics were similar between HER2-low and HER2 IHC 0 subgroups except for some differences in genetic alterations. Deterioration of PFS in later lines of therapy highlights a potential unmet need. Given the high patient attrition, the most effective treatments should be used as early as indicated as some patients may not proceed to subsequent lines of therapy.