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Gastrointestinal stromal tumour as a rare association with neurofibromatosis type 1

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      Abstract

      Gastrointestinal stromal tumours (GIST) are rare tumours of mesenchymal origin. These can be associated with neurofibromatosis type 1 (NF1), which is an autosomal dominant disorder. The prevalence of GIST in NF1 is estimated at 3.9–25%. This paper describes the presentation of a GIST arising from the jejenum in a 75-year-old lady with NF1, who presented with gastrointestinal bleeding. This was diagnosed by CT angiography. She was managed with laparotomy, with resection of small bowel, and an ischaemic segment of large bowel with two primary anastomoses. Pathology showed GIST of spindle cell type (Figs 3 and 4), 90 mm in size, with complete local excision. The patient was discharged on the eighth post-operative day and is currently undergoing regular clinic follow-up after multidisciplinary team meeting discussion.

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      Histopathology of gastrointestinal stromal tumor.

      Gastrointestinal stromal tumor (GIST), generally driven by oncogenic KIT or PDGFRA mutations, is the most common mesenchymal tumor of the gastrointestinal (GI) tract. GIST is most common in the stomach (60%) and small intestine (30%), but can occur anywhere in the GI-tract and the intra-abdominal soft tissues. GIST can show spindle cell or epithelioid morphology, and mitotic count and tumor size are most important prognostic parameters. GISTs in NF1 patients and children are distinctive clinicopathologic groups. Immunohistochemical testing for KIT and sometimes for DOG1/Ano 1 is essential in confirming the diagnosis. Copyright © 2011 Wiley Periodicals, Inc.
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        Gastrointestinal stromal tumors: correlation between symptoms at presentation, tumor location and prognostic factors in 47 consecutive patients

        Background Gastrointestinal stromal tumors (GIST) are mesenchymal tumors of the gastrointestinal tract, usually kit-positive, that are believed to originate from interstitial cell of Cajal, or their related stem cells. The most common clinical presentation of these tumors is gastrointestinal bleeding, otherwise they may cause intestinal obstruction, abdominal pain, a palpable mass, or can be incidentally detected during surgery or endoscopic/radiological procedures. Prognosis is related to the size of the tumor and to the mitotic rate; other prognostic factors are tumor location, tumor resection margins, tumor rupture, and c-kit mutation that may interfere with molecular target therapy efficacy. Aim Primary aim of this study was to report our experience regarding GIST patients, correlating symptoms at presentation with tumor localization and risk factors. Patients and methods 47 consecutive patients undergone to surgical resection for GISTs were enrolled in a prospective study from December 1999 to March 2009. Patient's clinical and pathological features were collected and analysed. Results The most common symptom was abdominal pain. Bleeding in the digestive tract and abdominal pain were more frequent in gastric GISTs (58% and 61%); acute abdominal symptoms were more frequent in jejunal and ileal GISTs (40% and 60%), p < 0.05. We reported a mild correlation between the mitotic rate index and symptoms at presentation (p 0.074): this correlation was stronger if GISTs causing "acute abdominal symptoms" were compared with GISTs causing "abdominal pain" as main symptom (p 0.039) and with "incidental" GISTs (p 0.022). We observed an higher prevalence of symptomatic patients in the "high risk/malignant group" of both the Fletcher's and Miettines's classification (p < 0.05). Conclusion According with our findings symptoms correlate to tumor location, to class risk criteria as mitotic index and risk classifications, however we cannot conclude that symptoms are per se predictive of survival or patient's outcome.
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          UK clinical practice guidelines for the management of gastrointestinal stromal tumours (GIST)

          Background Soft tissue sarcomas (STS) are rare tumours arising in mesenchymal tissues. Gastrointestinal stromal tumour (GIST) is the commonest STS and arises within the wall of the gastrointestinal (GI) tract. While most GISTs occur in the stomach they do occur in all parts of the GI tract. As with other STS, it is important that GISTs are managed by expert teams, to ensure consistent and optimal treatment, as well as recruitment to clinical trials, and the ongoing accumulation of further knowledge of the disease. The development of appropriate guidance, by an experienced panel referring to the evidence available, is therefore a useful foundation on which to build progress in the field. Methodology British Sarcoma Group guidelines for the management of GIST were initially developed by a panel of physicians experienced in the management of GIST. This current version has been updated and amended with reference to other European and US guidance. We have received input from representatives of all diagnostic and treatment disciplines as well as patient representatives. Levels of evidence and strength of recommendation gradings are those used by ESMO adapted from those published by the Infectious Disease Society of America. Conclusions The guidelines cover aetiology, genetics and underlying molecular mechanisms, diagnosis and initial investigations, staging and risk stratification, surgery, neoadjuvant and adjuvant therapy, the management of advanced disease and follow-up. The importance of mutational analysis in guiding treatment is highlighted, since this can indicate the most effective treatment and avoid administration of ineffective drugs, emphasising the need for management in specialist centres.
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            Author and article information

            Affiliations
            [1 ] Department of General Surgery, Queen Elizabeth University Hospital , G51 4TF Glasgow, UK
            [2 ] University of Glasgow School of Medicine , University Avenue, G12 8QQ Glasgow, UK
            [3 ] Department of Pathology, Queen Elizabeth University Hospital , G51 4TF Glasgow, UK
            Author notes
            Correspondence address. Department of General Surgery, Queen Elizabeth University Hospital, 1345 Govan Road, G51 4TF Glasgow, UK. Tel: +44 7545458591; E-mail: rhonahurley@ 123456nhs.net
            Journal
            J Surg Case Rep
            J Surg Case Rep
            jscr
            Journal of Surgical Case Reports
            Oxford University Press
            2042-8812
            February 2018
            21 February 2018
            21 February 2018
            : 2018
            : 2
            5822698
            10.1093/jscr/rjy017
            rjy017
            Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author(s) 2018.

            This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@ 123456oup.com

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