Novel association of CHEK2 mutation in gastrointestinal stromal tumor: A case report and literature review

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, typically driven by mutations inc-KITorPDGFRA. TheCHEK2gene encodes a checkpoint kinase involved in DNA damage response and has been implicated in hereditary cancer syndromes. However, its r...

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Bibliographic Details
Published in:Human Pathology Reports Vol. 42; p. 300794
Main Authors: Hu, Trevor T, Pazhyattil, Joyce, Richman, Allison M., Henderson, Kathryn, Groh, Darren, Abdulrahim, Ahmed F.
Format: Journal Article
Language:English
Published: Elsevier Inc 01.11.2025
Elsevier
Subjects:
c-KIT
CHEK2 mutation
DNA damage response
Gastrointestinal stromal tumor
Pathology
Tyrosine kinase inhibitors
CHEK2 mutation
c-KIT
DNA damage response
Tyrosine kinase inhibitors
Gastrointestinal stromal tumor
ISSN:2772-736X, 2772-736X
Online Access:Get full text
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Summary:Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, typically driven by mutations inc-KITorPDGFRA. TheCHEK2gene 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 aCHEK2mutation. 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 pathogenicCHEK2mutation, 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 aCHEK2mutation in GIST raises important questions about its potential role in tumorigenesis and therapeutic response. Given the established involvement ofCHEK2in genomic stability and checkpoint regulation, its presence in GIST warrants further investigation. This case highlights the need to exploreCHEK2mutations in larger cohorts to determine their clinical significance and potential impact on treatment strategies. This case represents the first reported association ofCHEK2mutation 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.
ISSN:2772-736X
2772-736X
DOI:10.1016/j.hpr.2025.300794