Adjuvant tyrosine kinase inhibitors, such as imatinib, are reserved for high-risk lesions or unresectable tumors. This case highlights the importance of considering GIST as a differential diagnosis in obscure upper GI bleeding. It also demonstrates that laparoscopic resection is a safe and effective treatment option for ileal GISTs, even in the context of acute bleeding.
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.
B7-H3 is a promising treatment target in sarcomas as it is highly expressed particular in high grade bone and soft tissue sarcomas, such as pleomorphic liposarcomas and osteosarcomas.
WT GISTs exhibit considerable molecular heterogeneity with novel or rare mutations of uncertain significance. Targeted NGS enables the detection of clinically relevant alterations that may guide future diagnostic and therapeutic strategies. Our findings emphasize the importance of targeted molecular profiling and raise the potential for personalized treatment in this challenging subset of GISTs.
NF1-associated GISTs are typically multifocal, small-bowel predominant, and poorly responsive to targeted medical therapy, rendering surgical resection the primary treatment strategy. This case highlights the unique tumor biology of NF1 and emphasizes the importance of meticulous anatomic evaluation and coordinated multidisciplinary surgical planning to determine the optimal extent and approach to resection.
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.
Immunohistochemistry remains indispensable for diagnosis, with DOG1 demonstrating superior sensitivity. These findings reinforce the critical role of integrated histopathological and immunohistochemical evaluation in the accurate diagnosis and management of GISTs.
On follow-up PET-CT scan after imatinib therapy, the patient showed a complete/near complete metabolic response. This report expands the imaging spectrum of PHGIST and emphasizes the importance of radiologic-pathologic correlation in distinguishing this rare lesion from metastatic liver disease.