PTEN mutation

Consistent with these findings, two patients derived profound clinical benefit from matched PARP inhibitors or anti-HER2 antibody-drug conjugate. Our findings definitively establish the somatic and clonal nature of these mixed tumors and provide a compelling rationale for molecularly guided treatment.

Given the multisystem involvement and elevated cancer risk associated with PTEN mutations, a multidisciplinary approach that includes genetic counseling, dermatologic evaluation, and ongoing oncologic monitoring is recommended. Increased awareness of gastrointestinal manifestations enables timely intervention and may reduce morbidity and mortality in this high-risk population.

TP53/RB1 co-alterations define an aggressive cancer subset with dysregulated cell cycle/chromatin pathways and reduced immunotherapy response. Targeting CDK, AURKA, or PI3K signaling offers promising therapeutic strategies.

Together, these results highlight distinct tumorigenic mechanisms in HIV+ DLBCL and underscore the need for mutational profiling of HIV+ DLBCL cohorts worldwide to identify biomarkers and therapeutic targets.

Taken together, our study reflected the impact of the HER2 status on the clinicopathological and molecular features of TNBCs, which might offer additional introspection and improvement for translational studies and therapeutic decisions for TNBCs.

In the CAPItello-291 trial, capivasertib and fulvestrant demonstrated efficacy in patients with up to two prior lines endocrine therapy, but its use in late-line settings has not yet been reported. In this article, we report a case of a woman with metastatic recurrent breast cancer who was treated with capivasertib and fulvestrant was used as the late-line treatment, resulting in a progression-free survival of 8 months.

P2, N=124, Recruiting, Alliance for Clinical Trials in Oncology | Trial primary completion date: Jan 2026 --> Jan 2027

The study particularly focuses on the combined use of immunotherapy (checkpoint inhibitors), chemotherapy (docetaxel), and androgen deprivation therapy (ADT), which are designed to break through the resistance-generating mechanisms and increase clinical efficacy...The current discussion also investigates the emerging areas of focus and perfection of combination regimens. The combination of all these developments makes it clear that the PI3K/AKT/mTOR signalling pathway is a key strategic point for developing therapeutics.

ESCAT tiers I-III alterations were reported in 79 % YA with MBC which supports the role of molecular profiling in YA. The differences detected in the genomic profiles of YA with BC and older patients may allude to potential different underlying disease biology.

In 20 % of breast cancer patients with LM, genetic alterations in the CSF were discordant from the primary tumor and/or systemic metastases. These genetic alterations involved in particular the PTEN-PI3K-AKT pathway in TN breast cancer. No ESR1 mutation limited to CSF only was found in HR+/HER2-breast cancer. Divergence of genetic alterations in LM from breast cancer must be considered for optimization of future target treatment strategy.

Here, we review the molecular pathogenesis, clinical features, histologic spectrum, and diagnostic strategies associated with familial follicular cell-derived thyroid tumors caused by DICER1 and PTEN germline alterations. Increased awareness of these entities by pathologists and clinicians is critical to ensure timely diagnosis, risk-appropriate surveillance, and cascade testing in affected families.

TAS-117 at the RP2D of 16 mg o.d. was tolerable, with a manageable safety profile. Clinical benefit, although durable, was only observed in a single patient with a germline PTEN mutation.