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• W2113846788 abstract "A 78-year-old woman presented with an abdominal mass associated with anaemia and weight loss. On physical examination, she was pale and the abdomen was distended because of a huge, non-tender abdominal mass extending from epigastrium to suprapubic region (Fig. 1). Huge intra-abdominal mass. Laboratory results showed anaemia with haemoglobin 7.8 g/dL, whereas other biochemical and tumour markers were normal. Oesophago-gastroduodenoscopy was carried out showing few duodenal polyps. Computed tomography scan showed a huge, heterogeneously enhanced tumour (30 cm in size) abutting the undersurface of diaphragm and displaced the adjacent viscera without sign of infiltration (Fig. 2). Computed tomography scan of abdomen showing that tumour displaces adjacent organs. Intraoperatively, tumour was found to arise from the inferior surface of left hemi-diaphragm near the tendenous part and was totally excised together with part of left hemi-diaphragm and it weighed 11 kg. Postoperative period was complicated by reactive left pleural effusion, which was gradually resolved. The histopathological diagnosis was malignant extra-gastrointestinal stromal tumour, which was strongly positive for c-kit and CD 34, but negative for actin, desmin and S-100 protein. Although gastrointestinal stromal tumours (GIST) are the most common mesenchymal neoplasms of the gastrointestinal tract, they account for less than 1% of all GI malignancies.4 Most of these tumours express a tyrosine kinase receptor, also called CD117, a product of c-kit proto-oncogene, which is the single best marker of GIST. Finding of this antigen allow us to classify those soft tissue tumours that are outside the gastrointestinal tract, but histologically resemble GIST and show strong immuohistochemical staining for kit as extra-gastrointestinal stromal tumour (EGIST). There are several suggestions about the histogenesis of EGIST. One of the possibilities proposed by Arash et al. is that tumours originate from the GI tract and later move outside the tract.2 Another possibility is these tumours arise from mesenchymal elements outside the GI tract.1,3 The cellular origin of GIST is thought to be the interstitial cell of Cajal, which has both a smooth muscle and neural component and functions as GI tract pacemaker.3,4 In our case, the tumour arose from the diaphragm, which only comprises skeletal muscles, making the former proposal of histogenesis more favourable, unless it originated from smooth muscles of blood vessels supplying the diaphragm. Of course, further studies are required before a conclusion can be drawn. The discovery of mutations of c-kit does not just help in the diagnosis, but also provides the development of effective therapy for GIST and with the implication in its prognosis. Imatinib is the only effective agent nowadays in treating GIST and acts as a selective competitive inhibitor of c-kit. It was shown to be successful in treating advanced or metastatic disease,7,10 in which those with mutations at exon 11 was associated with best response.5,6 However, there are no current data available to support the use of imatinib as either a neoadjuvant or an adjuvant agent.5 The dosage and duration of imatinib is generally agreed at 400 mg daily and in long term until progression of disease or intolerance, respectively.8,9 Whether the therapeutic effect of imatinib is the same on EGIST is still unknown; probably further prospective studies can give us more information. In conclusion, GIST are known for their diversity in clinical behaviour and difficulty in determining their malignant potential and prognosis. Although significant advances in diagnosis and treatment of GIST have been made during the past few years, the questions about histogenesis and treatment of EGIST still remain unanswered. Our case suggests that a migration from GI source is likely for EGIST. Ongoing studies probably can answer those questions and provide more new options in management of EGIST in the future." @default.
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• W2113846788 date "2008-10-01" @default.
• W2113846788 modified "2023-10-18" @default.
• W2113846788 title "MALIGNANT EXTRA-GASTROINTESTINAL STROMAL TUMOUR OF DIAPHRAGM" @default.
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• W2113846788 doi "https://doi.org/10.1111/j.1445-2197.2008.04694.x" @default.
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