Abstract
AbstractGastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, typically driven by mutations in c-KITor PDGFRA. The CHEK2gene encodes a checkpoint kinase involved in DNA damage response and has been implicated in hereditary cancer syndromes. However, its role in GIST pathogenesis remains unexplored. We report the case of a 67-year-old male with recurrent GIST who was found to harbor a CHEK2mutation. The patient initially presented with an abdominal mass, and histopathologic evaluation confirmed a spindle cell neoplasm with strong immunoreactivity for CD117, DOG1, and CD34. Molecular analysis identified a pathogenic CHEK2mutation, a finding not previously described in GIST. The patient was managed with surgical resection following imatinib therapy, with ongoing surveillance for recurrence. The discovery of a CHEK2mutation in GIST raises important questions about its potential role in tumorigenesis and therapeutic response. Given the established involvement of CHEK2in genomic stability and checkpoint regulation, its presence in GIST warrants further investigation. This case highlights the need to explore CHEK2mutations in larger cohorts to determine their clinical significance and potential impact on treatment strategies. This case represents the first reported association of CHEK2mutation with GIST, expanding the known genetic landscape of this tumor. Further studies are necessary to elucidate the implications of this mutation in GIST pathophysiology and treatment.