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1/8. Colorectal gastrointestinal mesenchymal tumours. Report of a stromal case of the rectum (GIST) and a leiomyosarcoma of the transverse colon.

    BACKGROUND: Gastrointestinal stromal tumours (GISTs) are the most common mesenchymal tumours of the gastrointestinal tract. They are positive to C-kit (CD 117), more common in the older males, and mostly in the stomach, less in the colon and rectum and oesophagus. Benign tumours are more common than the malignant ones. classification of GISTs is based on morphology and immunochemistry. methods: We report two cases of colorectal gastrointestinal mesenchymal tumours, one on the transverse colon which was found to be immunohistochemically leiomyosarcoma and the other on the rectum which met the GIST criteria. The patients underwent transversectomy and abdominal perineal resection, respectively. CONCLUSIONS: They did not receive Imanitib postoperatively and two years after there is no evidence of recurrence. Surgery is the treatment of choice for resectable GISTs, and other mesenchymal tumours benign or malignant.
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ranking = 1
keywords = esophagus
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2/8. Gastrointestinal stromal tumour of the colon presenting with intestinal obstruction.

    Gastrointestinal Stromal Tumours are the commonest mesenchymal tumors of the gastrointestinal tract, the stomach and small intestine being the favored sites. They rarely occur in the colon and rectum and esophagus. The diagnosis is difficult, especially in the rarer sites, since there are no pathognomic features to suggest GIST on preoperative clinical examination and investigations, and only a detailed histopathological analysis of the specimen reveals their true nature. The case of a young female patient who presented with intestinal obstruction due a GIST of the transverse colon is reported. The relevant literature is briefly reviewed.
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keywords = esophagus
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3/8. Primary gastrointestinal stromal tumor of the esophagus in an hiv-positive patient.

    We describe a rare case of malignant gastrointestinal stromal tumor (GIST) of the esophagus presenting in an hiv-positive man. Not only did the tumor arise from an unusual anatomic site for GIST, namely, the esophagus, but it also had a predominant epithelioid cell morphology that is uncommon and preferentially associated with aggressive behavior. Exhaustive immunohistochemical studies showed strong reactivities to the classic GIST marker, CD34, and to the current more sensitive and more specific GIST marker, CD117/ c-kit protein. This immunophenotype corresponded to that of stromal tumors arising in the more common sites like stomach and small intestine as well as to that of a reported series of esophageal GISTs in the general population. Mutations of the c-kit protein was detected in the tumor, confirming previous observations. This further documents that esophageal GIST and the more common benign esophageal spindle cell lesions are pathologically distinct entities and despite its rarity, esophageal GIST should be recognized by pathologists and clinicians. The occurrence of this tumor in an hiv-positive patient is coincidental, and it resulted in an extremely unusual metastatic site that has not been reported for GISTs.
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ranking = 6
keywords = esophagus
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4/8. Esophageal GIST: therapeutic implications of an uncommon presentation of a rare tumor.

    gastrointestinal stromal tumors (GISTs) are rarely reported in the esophagus. The authors report a patient with an esophageal GIST, incidentally found after an echocardiogram. CT scan and endoscopic ultrasonography showed the tumor in the dependence of the muscularis propria of the esophageal wall. An Ivor-Lewis esophagectomy was performed. The tumor was well-circumscribed involving the submucosal and the muscular layers of the esophagus, measuring 13.5 x 8.5 x 7.6 cm, without involving the surgical margins. Histologically, the tumor consisted of spindle cells, with low mitotic index (2/50 HPF), that were immunoreactive for KIT (CD117) and CD34, consistent with GIST of high risk of aggressive behavior. No adjuvant therapy was given to the patient, who is alive and without evidence of disease 1 year after surgery. Since esophageal GISTs are rarely reported in the literature and usually have a poor prognosis, the diagnostic differentiation of these tumors from other more common mesenchymal neoplasms is essential, both for therapeutic and prognostic reasons.
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ranking = 2
keywords = esophagus
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5/8. Sarcomatoid carcinoma of the esophagus.

    The authors present two rare cases of sarcomatoid carcinoma of the lower thoracic esophagus in a 73-year-old woman and a 42-year-old man. The histogenesis, clinicopathological features and differential diagnosis of this unusual tumor are also discussed.
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ranking = 5
keywords = esophagus
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6/8. Detection of a new mutation in KIT exon 9 in a gastrointestinal stromal tumor.

    gastrointestinal stromal tumors are mesenchymal tumors arising in the stomach and small bowel and more rarely in the rectum, esophagus, peritoneum and retroperitoneum. These tumors are characterized by KIT or PDGFRA mutations. KIT mutations are all in frame and lead to constitutive tyrosine kinase domain activation without ligand binding. Mutations concern four exons (9, 11, 13 and 17) but mainly exon 11. We report a new mutation in exon 9, since only AY 502-503 duplication/insertion, FAF 506 insertion and P456S substitution have been previously reported. This mutation consists of a large deletion of 43 nucleotides and an insertion of 25 nucleotides. More surprisingly, the sequence inserted corresponds to the complementary sequence of the wild allele but in the opposite sense. To our knowledge, this mutation has never been previously described.
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ranking = 1
keywords = esophagus
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7/8. Could imatinib replace surgery in esophageal gastrointestinal stromal tumor.

    gastrointestinal stromal tumors GISTs are cellular spindle, or epithelioid tumors that occur in the stomach, intestine, and rarely in the esophagus. A 61-year-old man was complaining of resistant dry cough with dysphagia for one month duration. upper gastrointestinal tract endoscopic examination showed a polypoid mass 30 cm from the incisors obstructing 50% of the lumen, where multiple biopsies were taken. magnetic resonance imaging MRI showed a mass in the wall of the esophagus extending into the thoracic cavity. Histologically, the stained sections with the routine hematoxylin and eosin as well as the immunohistochemical stains for CD117, CD34, S100, vimentin, and smooth muscle actin confirmed the diagnosis of esophageal GIST. The patient was treated with imatinib, 400 mg/day. There was a dramatic reduction in the size of the tumor with successful improvement of his symptoms after 2 months of treatment, which was confirmed by repeated upper GIT endoscopy, and MRI.
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ranking = 2
keywords = esophagus
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8/8. A new case of Carney triad: gastrointestinal stromal tumours and leiomyoma of the oesophagus do not show activating mutations of KIT and platelet-derived growth factor receptor alpha.

    The Carney triad is a rare syndrome of unknown aetiology, with synchronous or metachronous appearance of rare neoplasms: gastrointestinal stromal tumours (GISTs), pulmonary chondromas and extra-adrenal paragangliomas. In most cases, the Carney triad is incomplete. The combination encountered typically, GISTs and pulmonary chondromas, was also seen in our patient, a 22-year-old woman. She was diagnosed with the triad after Billroth II gastrectomy for histologically proved gastric GISTs. The diagnosis of pulmonary chondromas was confirmed by transthoracic, computed tomography-guided needle biopsy. An oesophageal leiomyoma was resected 2 years after the initial diagnosis, on suspicion of paraganglioma. The clinical course of the patient has been uneventful since. The last follow-up was carried out 6 years after the initial diagnosis. On histological examination, the cells of gastric GIST were partly positive for CD34, whereas CD117 was expressed in all areas in variable intensity and S-100 protein was negative. The oesophageal tumour was classified as leiomyoma due to strong immunopositivity for smooth muscle actin and desmin, being negative for CD34 and CD117. Two different gastric GIST lesions as well as the oesophageal leiomyoma and normal tissue were analysed for activating mutations in common hot spots of KIT (exon 9 and 11) and platelet-derived growth factor receptor alpha (exon 18), but in all probes wild-type sequences were found. These results are in accordance with the first published analyses of GIST lesions from Carney patients.
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ranking = 4
keywords = esophagus
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