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      Football Size Jejunal Gastrointestinal Stromal Tumour

      case-report
      Author(s): 1 , , 2
      Editor(s): ,
      Publication date (Electronic, pub):
      Publication date (Electronic, collection):
      Journal: Cureus
      Publisher: Cureus
      Keywords: gastrointestinal stromal tumour, gist, abdominal mass

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          Abstract

          Gastrointestinal stromal tumours (GISTs) are considered the most common mesenchymal neoplasms of the alimentary tract, yet they account for only 0.2% of all gastrointestinal neoplasms.

          We are presenting a case of a 68-year-old gentleman who was diagnosed with a 250 mm jejunal GIST only when he presented with abdominal pain and fullness in the upper abdomen. We believe that detailed medical history, followed by prompt investigations, will help in early diagnosis of small GISTs with less malignant potential, which in turn will lead to better outcomes.

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          Gastrointestinal stromal tumors: a comprehensive review.

          Trisha Parab, Michael J. DeRogatis, Alexander M Boaz … (2019)
          Gastrointestinal stromal tumors (GISTs) are rare neoplasms of the gastrointestinal tract associated with high rates of malignant transformation. Most GISTs present asymptomatically. They are best identified by computed tomography (CT) scan and most stain positive for CD117 (C-Kit), CD34, and/or DOG-1. There have been many risk stratification classifications systems which are calculated based on tumor size, mitotic rate, location, and perforation. The approaches to treating GISTs are to resect primary low-risk tumors, resect high-risk primary or metastatic tumors with imatinib 400 mg daily for 12 months, or if the tumor is unresectable, neoadjuvant imatinib 400 mg daily followed by surgical resection is recommended. Sunitinib is required for KIT exon 9, 13, and 14 mutations, while ponatinib is used for exon 17 mutations and regorafenib for highly refractory tumors. High-risk tumors should be monitored for recurrence with serial abdominal CT scans. Radiofrequency ablation has shown to be effective when surgery is not suitable. Newer therapies of ipilimumab, nivolumab, and endoscopic ultrasound alcohol ablation have shown promising results. This report addresses the epidemiology, clinical presentation, diagnostic imaging, histologic diagnosis, classification and risk stratification, staging and grading, surgical treatment, adjuvant treatment, and metastasis of GISTs.
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            Gastrointestinal stromal tumor : epidemiology, diagnosis, and treatment

            George Mantese (2019)
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              Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis.

              Jerzy Lasota, Markku Miettinen (2006)
              Gastrointestinal stromal tumors (GISTs) are specific, generally Kit (CD117)-positive, mesenchymal tumors of the gastrointestinal tract encompassing a majority of tumors previously considered gastrointestinal smooth muscle tumors. They are believed to originate from interstitial cells of Cajal or related stem cells. To review current clinicopathologically relevant information on GIST. Literature in Medline and authors' own experience. GISTs usually occur in older adults (median age 55-60 years) and rarely in children in the second decade (<1%) throughout the gastrointestinal tract: 60% in stomach, 35% in small intestine, and less than 5% in rectum, esophagus, omentum, and mesentery; most GISTs in the latter 2 sites are metastatic. Five percent of GISTs occur in patients with neurofibromatosis type 1 syndrome (multiple small intestinal tumors) and in Carney triad (gastric epithelioid GISTs in young females). Familial GISTs occur in patients with inheritable germline Kit or platelet-derived growth factor receptor alpha (PDGFRA) mutations. Histologically GISTs vary from spindle cell tumors to epithelioid and pleomorphic tumors. Most GISTs (95%) express Kit (CD117), CD34 (70%), and heavy caldesmon (80%), whereas 25% are positive for smooth muscle actin and less than 5% for desmin. Tumor size and mitotic activity are best predictive prognostic features; small intestinal tumors behave more aggressively than gastric tumors with similar parameters. Mutually exclusive gain-of-function Kit or PDGFRA mutations occur in a majority of GISTs representing in-frame deletions, point mutations, duplications and insertions. Mutations in Kit juxtamembrane domain (exon 11) are the most common in GISTs of all sites, whereas rare Kit extracellular domain (exon 9) Ala502-Tyr503 duplication is specific for intestinal GISTs. Mutations in PDGFRA have been identified in juxtamembrane (exon 12) and tyrosine kinase domains (exons 14 and 18), nearly exclusively in gastric GISTs, mostly in epithelioid variants. Some Kit and PDGFRA mutations have a prognostic value. Kit/PDGFRA tyrosine kinase inhibitor imatinib has been successfully used in the treatment of metastatic GISTs for more than 5 years. However, primary and acquired secondary resistance linked to certain types of Kit and PDGFRA mutations is limiting long-term success necessitating the use of alternative treatments.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Cureus
                Journal ID (iso-abbrev): Cureus
                Journal ID (issn): 2168-8184
                Title: Cureus
                Publisher: Cureus (Palo Alto (CA) )
                ISSN (Electronic): 2168-8184
                Publication date (Electronic, pub): 5 December 2020
                Publication date (Electronic, collection): December 2020
                Volume: 12
                Issue: 12
                Electronic Location Identifier: e11913
                Affiliations
                [1 ] Breast Surgery, West Hertfordshire Hospitals NHS Trust, St. Albans and Watford General Hospitals, London, GBR
                [2 ] Surgical Oncology, Fayoum University, Fayoum, EGY
                Author notes
                Article
                DOI: 10.7759/cureus.11913
                PMC ID: 7781859
                SO-VID: 7795610c-c5ad-4ed4-ba54-2caf7b4e668c
                Copyright © Copyright © 2020, Monib et al.
                License:

                This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

                History
                Date accepted : 4 December 2020
                Categories
                Subject: Gastroenterology
                Subject: General Surgery

                Keywords: gastrointestinal stromal tumour,gist,abdominal mass
                Data availability:
                Keywords: gastrointestinal stromal tumour, gist, abdominal mass

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