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Beghini, A., Tibiletti, M., Roversi, G., Chiaravalli, A., Serio, G., Capella, C. and Larizza, L. (2001) Germline Mutation in the Juxtamembrane Domain of the Kit Gene in a Family with Gastrointestinal Stromal Tumors and Urticaria Pigmentosa. Cancer: Interdisciplinary International Journal of the American Cancer Society, 92, 657-662.
https://doi.org/10.1002/1097-0142(20010801)92:3<657::AID-CNCR1367>3.0.CO;2-D

has been cited by the following article:

• TITLE: Complexity of Giant GIST Case Series and Review of the Literature

  AUTHORS: Remy Mckey, Mohamad Alskafi, Houda Khatoun, Hassan Salame, Salah Ezzedine

  KEYWORDS: Gastrointestinal Stromal Tumor, GIST, GI Malignancy, Imatinib, Case Series

  JOURNAL NAME: Open Journal of Gastroenterology, Vol.12 No.6, June 30, 2022

  ABSTRACT: Background: Gastrointestinal stromal tumors are the most common type of mesenchymal tumors of the GI tract, most commonly found in the stomach and intestines. They are thought to grow from the interstitial cells of Cajal (ICCs) or precursors of these cells. They have an insidious onset and may grow to a very large size depending on the site of origin. Material and method: We present a case series of three patients who had very large GISTs that had different presentations and outcomes. Patients were from different backgrounds and all were above 50 years old. Each one had a palpable mass in the abdomen in the initial presentation with a multilobulated mass at imaging devoting malignant behavior and higher risk of the tumor. They are managed according to guidelines and treated with Imatinib, but none of them had genetic and molecular studies of the tumor due to non-availability of the test. Conclusion: As a conclusion, GISTs are not easy to diagnose especially in the early phase of the disease and it may take years for it to become clinically relevant. Thence a thorough medical history and physical exam with imaging and endoscopies are the main diagnostic modalities with the importance of molecular profiling that will guide therapy and predicting prognosis.