Patient: Male, 68Final Diagnosis: Ruptured metastatic hepatic lesion from a jejunal GISTSymptoms: Abdominal discomfort • hypotensionMedication: —Clinical Procedure: —Specialty: Gastroenterology and HepatologyObjective:Rare diseaseBackground:Gastrointestinal stromal tumors (GISTs) are rare gastrointestinal neoplasms. The spontaneous rupture of a jejunal GIST is very rare and spontaneous rupture of liver metastasis from an intestinal GIST is even rarer with only a few cases reported in the literature.Case Report:In this article, we reported a case of spontaneous rupture of a liver metastasis from a malignant jejunal GIST that presented with active tumoral bleeding, hypovolemic shock, and hemoperitoneum. The patient was successfully treated with arterial embolization of the tumor.Conclusions:In appropriately selected patients, arterial embolization appears to be an effective safe treatment for a GIST metastasis rupture.

We present the first reported case of stage 4 thymoma with pleural metastases that was found to be driven by the neurotrophic tyrosine receptor kinase (NTRK)-fusion gene. The patient was started on chemotherapy but it was discontinued due to intolerable side effects. Alternative options in such patients with rare diseases are limited; in fact, many concerns exist regarding the safety and efficacy of newly approved agents for the treatment of advanced thymomas, such as pembrolizumab and sunitinib. Due to NTRK-fusion gene positivity, entrectinib, a novel NTRK-fusion inhibitor, was then initiated. This drug has shown an objective response of 57% in treating NTRK fusion-positive solid tumors of 19 different histological subtypes, predominantly sarcomas, non-small cell lung cancer (NSCLC), and mammary analogue secretory carcinoma of the salivary gland. However, it has never been assessed in the treatment of thymomas. After 10 months of follow-up, the patient showed a significant response with mild adverse events, which was managed by temporary discontinuation of the drug. This case highlights the crucial role of whole-genome sequencing and tissue-agnostic antineoplastics in the future of cancer treatment.

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.