BRAF

This study investigated additional genetic alterations in MET-amplified gastric cancers (GCs), which are associated with poor prognosis and limited response to targeted therapies. Researchers found that MET amplification is frequently accompanied by co-amplifications of other oncogenes located on chromosome 7, such as BRAF, CDK6, and EGFR, in 54% of cases. These co-amplifications exhibit significant intra- and intertumoral heterogeneity. This complex heterogeneity may explain the diagnostic and therapeutic challenges, subclonal evolution, and the failure of targeted therapies in MET-amplified GCs.

This study developed a functional precision oncology platform using patient-derived organoids (PDOs) and xenografts (PDOXs) from BRAFV600E-mutant colorectal cancer (CRC). The platform faithfully recapitulated tumor heterogeneity and drug responses. Researchers discovered that RNF43 mutations predict enhanced sensitivity to the encorafenib-cetuximab combination and increase tumor immunogenicity. These findings provide a mechanistic rationale for combining targeted therapies with immunotherapy in this aggressive CRC subtype.

This prospective study evaluated the clinical value of serum-based BRAF V600E mutation detection, alone and in combination with ultrasound-guided fine-needle aspiration cytology (US-FNAC), for the preoperative diagnosis of papillary thyroid carcinoma (PTC). The study included 145 patients with small thyroid nodules. Results indicated that serum BRAF V600E detection, while comparable to US-FNAC in overall performance, showed significantly higher sensitivity for papillary thyroid microcarcinoma (micro-PTC). The integration of both methods substantially improved overall diagnostic performance, suggesting a complementary approach for earlier diagnosis and better risk stratification.

This retrospective study investigated eight cases of multifocal micronodular pneumocyte hyperplasia (MMPH) associated with tuberous sclerosis complex (TSC), a rare benign pulmonary lesion. Patients typically presented with multiple ground-glass nodules in the lungs on CT scans and various clinical manifestations of TSC. A significant diagnostic challenge was highlighted, as intraoperative frozen sections were often misdiagnosed as early-stage lung adenocarcinoma. Next-generation sequencing revealed TSC1 or TSC2 gene mutations in most patients, confirming the association with TSC. All followed-up patients showed a favorable overall survival.

This study investigated the utility of urinary extracellular vesicles (EVs) as a liquid biopsy source for colorectal cancer (CRC). Urinary EVs demonstrated superior purity and DNA quality compared to plasma and urinary cell-free samples. Detecting RAS/BRAF mutations in urinary EV-DNA after curative surgery allowed for minimal residual disease (MRD) identification. MRD positivity was strongly associated with an increased risk of recurrence and inferior overall survival. These findings suggest that urinary EV-DNA is a promising tool for postoperative monitoring and risk stratification in CRC patients.

This retrospective study analyzed 120 cases of lung adenocarcinoma (LUAD) with malignant serous effusions (MSE) to characterize their clinicopathologic, molecular, and prognostic features. Pleural effusions were most common, but pericardial involvement was associated with the shortest overall survival. Molecular profiling revealed TP53 mutations and actionable alterations in genes such as EGFR, KRAS, BRAF, ALK, and ROS1. NKX2-1 (TTF-1) negativity and the absence of actionable alterations were independent adverse prognostic factors, with dual NKX2-1/CD274 (PD-L1) negativity defining the poorest prognosis subgroup. Immunotherapy-based regimens and tyrosine kinase inhibitors showed varying survival benefits.