Symptoms and Diagnosis
According to the American Cancer Society, GISTs are fragile tumors that can bleed easily, which is often how they are detected—by causing bleeding in the gastrointestinal tract (Signs and Symptoms of Gastrointestinal Stromal Tumors, n.d.). Other symptoms include abdominal pain, bloody stools, indigestion, and difficulty swallowing (Gastrointestinal Stromal Tumors (GIST), 2022).
GISTs are often discovered accidentally during endoscopic or radiographic studies or even during surgery for other conditions (Gerrish & Smith, 2008). Although rare, GISTs can be inherited. There is also a rare syndrome called Carney’s triad, which mainly affects young women and includes GISTs in the stomach, along with other tumors like paraganglioma and lung chondroma (Horenstein et al., 2005).
Currently, there are no effective screening tests specifically for GISTs. They are usually detected when symptoms appear or are found accidentally during endoscopy or ultrasound (Scherübl et al., 2014; Can Gastrointestinal Stromal Tumors Be Found Early?, 2019).
References
Burch, J., & Ahmad, I. (2022, September 26). Gastrointestinal stromal cancer. StatPearls - NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK554541/
Can gastrointestinal stromal tumors be found early? (n.d.). American Cancer Society. https://www.cancer.org/cancer/types/gastrointestinal-stromal-tumor/detection-diagnosis-staging/detection.html
Definition of GIST - NCI Dictionary of Cancer Terms. (n.d.). Cancer.gov. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/gist
Gastrointestinal stromal tumors (GIST). (2022, August 15). Yale Medicine. https://www.yalemedicine.org/conditions/gastrointestinal-stromal-tumors-gist
Gerrish, S. T., & Smith, J. W. (2008, January 1). Gastrointestinal Stromal Tumors—Diagnosis and Management: A Brief review. PubMed Central (PMC). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3096364/
Horenstein, M. G., Hitchcock, T. A., & Tucker, J. A. (2005). Dual CD 117 expression in gastrointestinal stromal Tumor (GIST) and paraganglioma of Carney triad: a case report. International Journal of Surgical Pathology, 13(1), 87–92. https://doi.org/10.1177/106689690501300113
IJzerman, N. S., Drabbe, C., Hollander, D. D., Mohammadi, M., Van Boven, H., Desar, I. M., Gelderblom, H., Grünhagen, D. J., Reyners, A. K., Van Noesel, M. M., Mathijssen, R. H., Steeghs, N., & Van Der Graaf, W. T. (2020). Gastrointestinal Stromal Tumours (GIST) in Young Adult (18–40 Years) Patients: A Report from the Dutch GIST Registry. Cancers, 12(3), 730. https://doi.org/10.3390/cancers12030730
Postow, M. A., & Robson, M. E. (2012). Inherited gastrointestinal stromal tumor syndromes: mutations, clinical features, and therapeutic implications. Clinical Sarcoma Research, 2(1). https://doi.org/10.1186/2045-3329-2-16
Scherübl, H., Faiss, S., Knoefel, W., & Wardelmann, E. (2014). Management of early asymptomatic gastrointestinal stromal tumors of the stomach. World Journal of Gastrointestinal Endoscopy, 6(7), 266. https://doi.org/10.4253/wjge.v6.i7.266
Sharma, A. K., De La Torre, J., IJzerman, N. S., Sutton, T. L., Zhao, B., Khan, T. M., Banerjee, S., Cui, C., Nguyen, V., Alkhuziem, M., Snaebjornsson, P., Van Boven, H., Bruining, A., Tang, C., Yoon, H., De La Fuente, A., Kato, S., Patel, H., Heinrich, M. C., & Sicklick, J. K. (2021). Location of gastrointestinal stromal tumor (GIST) in the stomach predicts tumor mutation profile and drug sensitivity. Clinical Cancer Research, 27(19), 5334–5342. https://doi.org/10.1158/1078-0432.ccr-21-1221
Shukla, S., Singh, S. K., & Pujani, M. (2009). Multicentric malignant gastrointestinal stromal tumor. Saudi Journal of Gastroenterology, 15(1), 45. https://doi.org/10.4103/1319-3767.45055
Sun, Y., Yue, L., Xu, P., & Hu, W. (2022). An overview of agents and treatments for PDGFRA-mutated gastrointestinal stromal tumors. Frontiers in Oncology, 12. https://doi.org/10.3389/fonc.2022.927587
Zhou, S., Abdihamid, O., Tan, F., Zhou, H., Liu, H., Li, Z., Xiao, S., & Li, B. (2024). KIT mutations and expression: current knowledge and new insights for overcoming IM resistance in GIST. Cell Communication and Signaling, 22(1). https://doi.org/10.1186/s12964-023-01411-x
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