KIT mutation

Tyrosine kinase inhibitors (TKI) (midostaurin, avapritinib) have changed the treatment landscape in SM...Cladribine continues to have a role for MC debulking, whereas interferon-α has a diminishing role in the TKI era...Allogeneic stem cell transplant has a role in such patients. Imatinib has a therapeutic role only in the rare patient with an imatinib-sensitive KIT mutation.

cytopenias or organomegalies) and shorter PFS and overall survival. Our findings confirm the clinical, genetic and prognostic heterogeneity of SM-AHN and point out its association with the underlying oncogenic profile of neoplastic MC and AHN cells.

P3, N=482, Recruiting, Cogent Biosciences, Inc. | Active, not recruiting --> Recruiting

Multidisciplinary team approaches are essential for individualized care. Future progress depends on biomarker-driven trials, integration of novel strategies such as Chimeric Antigen Receptor T-Cell (CAR-T) therapy, and stronger international collaborative research to improve outcomes in this challenging malignancy.

We conclude that KIT mutations, especially exon 17, confer a high-risk phenotype in otherwise favorable pediatric AML1::ETO AML. Our exploratory data suggest this may be associated with a chemoresistant profile, potentially driven by SOCS1-associated JAK-STAT dysregulation. These findings highlight the necessity of refined risk stratification based on KIT exon profiling and support targeting the SOCS1/JAK-STAT axis to overcome therapy resistance.

Mutational signatures included chromosomal instability and chromothripsis. There was a robust ancestry-related difference in tumor evolutionary dynamics where African ancestry was correlated with more genome doubling and clonality with less evolutionary branching.

KRAS mutations were more frequent in dMMR tumors than in MMR-proficient tumors (63.8% vs 40.8%).ConclusionGenetic mutations in the RAS/RAF pathway and dMMR status are associated with distinct clinicopathological features in patients with early-onset CRC. dMMR is a potentially favorable prognostic marker.

P=N/A, N=82, Recruiting, Fujian Medical University Union Hospital | N=180 --> 82

Esophageal GISTs are exceptionally rare, and those driven by BRAF gene fusions are even more uncommon. This report describes a 69-year-old woman who underwent surgical resection of an esophageal GIST harboring an MKRN1-BRAF gene fusion, offering insight into future treatment and surveillance strategies.

For therapeutic categories, performance reached 0.84 for avapritinib sensitivity and 0.81 for imatinib sensitivity. Prognostic performance was comparable to pathology-based scores, with highest discrimination in the overall cohort and in patients without adjuvant therapy. DL applied to WSIs enables prediction of molecular alterations, treatment sensitivity, and RFS in GIST, performing comparably to established risk scores across international cohorts, providing a baseline for future multimodal predictors.

RNA-Seq demonstrates high accuracy for detecting clinically relevant KIT and PDGFRA mutations and may complement DNA-based profiling. The DNA cohort provides broader context for mutation prevalence and patterns in clinical practice.

This study characterizes the clinicopathological and molecular profiles of 29 Caucasian GIST patients, reinforcing the critical role of molecular stratification in clinical practice.