PTEN

This study characterized the genomic landscape of leiomyosarcoma, a rare and aggressive tumor, by analyzing a large dataset from the AACR Project GENIE. Researchers examined over 1,000 tumor samples, identifying the most frequent somatic mutations and copy number alterations. TP53, RB1, and ATRX were the most commonly altered genes, with homozygous deletions of RB1 and TP53, and MAP2K4 amplifications. The study also highlighted enriched IGF2 and AXIN1 alterations in metastatic samples, suggesting their potential role in disease progression. These findings enhance the understanding of leiomyosarcoma biology and could guide future precision oncology strategies.

This study investigates the impact of next-generation sequencing (NGS) on the diagnosis of BAP1 inactivated melanocytic tumors (BIMTs), which often exhibit significant morphological atypia, complicating their classification. A survey among dermatopathologists revealed that incorporating NGS results significantly improved diagnostic accuracy and interobserver agreement. Specific genomic aberrations, including pathogenic variants in TERT-p, CDKN2A, PTEN, and MYC amplification, were found exclusively in malignant cases. These findings suggest that NGS could refine melanoma diagnosis, which is critical for guiding access to effective therapies.

This prospective study evaluated gene expression profiling of seven genes (EGFR, FGFR2, PIK3CA, PTEN, SMAD4, STK11, TP53) in cell-free RNA (cfRNA) from exhaled breath condensate (EBC) in patients with advanced lung adenocarcinoma. Results indicated that PIK3CA showed the best diagnostic performance in distinguishing patients from healthy controls. High expression of FGFR2 and PIK3CA was associated with significantly shorter overall survival, highlighting their prognostic relevance. EGFR expression demonstrated a strong correlation between EBC and plasma, and low EGFR expression was linked to longer survival in patients receiving chemotherapy alone. This non-invasive EBC-based approach offers potential for molecular characterization and patient stratification.

This review examines established and emerging biomarkers for stratifying patients with early-stage breast cancer to optimize adjuvant systemic therapy. It highlights that while clinicopathological factors remain fundamental, decision-making is increasingly driven by precise biological markers. ER and HER2 status are crucial, and multigene assays refine recurrence risk and chemotherapy benefit in hormone receptor-positive cancers. Immune and DNA-repair biomarkers inform targeted therapies in HER2-positive and triple-negative subtypes, while mutation profiling of genes like ESR1, PIK3CA, AKT, MTOR, and PTEN guides targeted treatments. Emerging approaches, including liquid biopsy and artificial intelligence, offer dynamic insights but require prospective validation.