Gastrointestinal Stromal Tumor

P=N/A, N=1000, Not yet recruiting, Universität Duisburg-Essen

The advent of targeted therapy, notably the first tyrosine kinase inhibitor (TKI) imatinib, has revolutionized the treatment landscape for GISTs...This commentary highlights discrepancies in the recommendations for managing GISTs as outlined in these major guidelines. Based on emerging new evidence from recent studies, the authors propose recommendations to be considered for inclusion in future guideline updates to optimize management strategies and ultimately improve the outcomes of patients with GISTs.

Definitive diagnosis of seminoma was established through expanded immunohistochemistry (OCT4+/SALL4+/PLAP+/D2-40+) and molecular confirmation of the characteristic KIT p.D816Y mutation, which concurrently explains the observed imatinib resistance. In conclusion, the findings of the present study highlighted the imperative of integrating morphology, immunohistochemistry and context-specific molecular profiling to avoid diagnostic in CD117-positive tumors.

Our findings highlight the clinical relevance of integrating NGS into routine GIST management, particularly for the identification and interpretation of rare genetic variants. The study underscores the importance of data sharing and collective variant annotation to support accurate molecular classification, prognostic assessment, and therapeutic decision-making for individual patients.

P=N/A, N=10, Completed, iOMEDICO AG | Recruiting --> Completed | N=100 --> 10 | Trial completion date: Nov 2027 --> Sep 2025 | Trial primary completion date: Sep 2027 --> Aug 2025

P1/2, N=75, Active, not recruiting, Memorial Sloan Kettering Cancer Center | Trial completion date: Nov 2025 --> Nov 2026 | Trial primary completion date: Nov 2025 --> Nov 2026

Considering the rarity and heterogeneity of WT-GISTs, a regulatory detection procedure should be established for WT-GISTs, including NGS for qWT-GISTs, to identify the molecular mechanisms and potential therapeutic targets. Implications: WT-GISTs are heterogenous tumors which should be managed using different treatments and follow-up strategies.

The patient has been on imatinib since July 2023 with controlled disease. To the best of our knowledge, this is the first reported case of CSS with a DIS3L2 variant. Further reports and studies are needed to establish a definitive association between this gene and CSS.

In light of the lack of metastatic dissemination and the patient's advanced age, targeted therapy with imatinib was commenced, leading to the elimination of hypoglycemia episodes. This case underscores the necessity of incorporating NICTH into the differential diagnosis of hypoglycemia in non-diabetic individuals, particularly when a tumor is present. Timely identification and focused intervention of the underlying neoplasm can result in positive outcomes.

The identification of patients with NF1 and their interittent follow-up are important for the early detection of potential complications, especially tumorigenesis. This review aimed to summarize NF1-associated tumors in pediatric patients and recently developed targeted therapies for treating these tumors.

Using a 73-gene panel, we characterized the molecular characteristics of GISTs and revealed a correlation with their clinical features. Moreover, KIT/PDGFRA-dependent and KIT/PDGFRA-independent mechanisms underlying resistance to imatinib were explored. Overall, our 73-gene panel is sufficient for clinical application in cases of GISTs.