Metastatic Gastrointestinal Stromal Tumor to the Skull
Saksham Gupta1, Wenya Linda Bi1, Ian F Dunn1
1Department of Neurosurgery, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Background:
Gastrointestinal stromal tumors (GISTs) arising from the interstitial cells of Cajal along the gastrointestinal tract rarely metastasize to the central nervous system (CNS) but require aggressive multimodal therapies when they do. We present a case of recurrent GIST metastasis to the skull and review the literature on management, including the role of molecular profiling in determining adjuvant treatment.
Case:
A 64-year-old woman presented with an enlarging palpable mass over her right eye. Magnetic resonance imaging revealed an enhancing T1-hypointense, T2-hyperintense right frontal calvarial lesion with lytic features on computed tomography. Pathology confirmed metastatic GIST to the skull with dural involvement. Molecular profiling revealed a mutation in exon 11 of KIT in her primary tumor, while the skull metastasis harbored an additional mutation in exon 17 associated with acquired drug resistance.
Conclusion:
We review the epidemiology of GIST metastases and discuss potential reasons for its rare presentation to the CNS. Additionally, we highlight the diagnostic and prognostic value of molecular profiling for metastatic GIST, as well as its influence in arbitrating targeted molecular inhibitor therapy. Evolving molecular signatures, associated with treatment resistance, may play a pivotal role in future integration with multimodality treatment strategies for CNS GIST.
