KIT mutation

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.

We conducted a phase 2 trial of pan-fibroblast growth factor receptor inhibitor rogaratinib in patients with sarcoma and report here on the cohort of patients with advanced SDH-deficient GIST...This trial illustrates a successful demonstration of targeted cancer therapy predicated on an epigenetic mechanism of oncogene activation. Clinicaltrials.gov identifier: NCT04595747 .

This case highlights a possible association between secondary genomic alterations, PRC2-related epigenetic alteration, and aggressive tumor behavior in NF1-associated GIST. Integrated genomic and epigenomic evaluations may provide important insights into tumor behavior and therapeutic strategies for this rare GIST subtype.

Patients with germline PVs were more likely to have two or more affected first-degree relatives (49.0% vs. 29.1%, p = 0.019). These findings highlight a meaningful germline contribution to MM risk and support the incorporation of genetic testing in this population.

The patient demonstrated imatinib treatment response in her small bowel lesion, yet no change in the pancreatic lesion nor cystic masses associated with the stomach. Additionally, GISTs rarely metastasize to the pancreas, with only a handful of cases reported in the literature; this further emphasizes the need to consider alternative or additional diagnoses when patients without predisposing factors to multifocal GIST present with multiple lesions, even at younger ages.

P1, N=14, Not yet recruiting, Jecho Biopharmaceuticals Co., Ltd.

P3, N=482, Active, not recruiting, Cogent Biosciences, Inc. | Trial completion date: Sep 2026 --> Jan 2030

Avapritinib provides a favorable initial response in children with RUNX1::RUNX1T1-positive AML harboring KIT mutations, enabling deeper molecular remission; however, response rates decline with prolonged treatment. Avapritinib has a favorable safety profile.