Congenital intestinal lymphangiectasia

Background. Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. Case report. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and suportive therapy. Conclusion. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications

Significance of KIT and PDGFRA mutations in gastric gastrointestinal stromal tumor imatinib-naive surgically treated patients

BACKGROUND: /Aim. KIT (KIT proto-oncogene receptor tyrosine kinase) and PDGFRA (platelet-derived growth factor receptor alpha) gene mutations represent major molecular forces inside the gastrointestinal stromal tumors (GIST). Aim of this study was to evaluate these mutations in the patients who underwent surgical resection of gastric GIST, but without imatinib mesylate treatment. Methods. Retrospective clinical study included patients who were operated on due to gastric GIST from November 2000 till November 2016. A molecular analysis of paraffin embedded tumor tissue was performed, and the patients with the presence of KIT and PDGFRA mutations were further evaluated, with regard to the pathological tumor stage, disease recurrence and overall survival. Results. Out of 45 patients in total, 43 patients had KIT and PDGFRA mutations, and 2 patients were classified as the wild type GIST. After curative resection, 11 patients were classified as a low risk GIST, 8 as an intermediate risk and 26 as a high risk GIST. The KIT mutations were present in 37 patients, most commonly as deletion in exon 11. The PDGFRA mutations were present in 6 patients. The presence of KIT mutation had a strong statistical correlation with the mitotic index (p = 0.021). After the ten-year follow-up, all patients with the PDGFRA mutations were alive, while those with the KIT mutations had a survival rate of 71% (p = 0.31). Conclusion. The presence of KIT exon 11 deletion in the patients with primarily resected gastric GIST is associated with the higher mitotic index and worse overall survival than those present with the PDGFRA mutations. This results suggest prognostic significance towards more aggressive behaviors

Biliary mucinous cystadenoma of the liver with focal malignant alteration

Biliary mucinous cystadenoma of the liver is a rare tumor that develops almost exclusively in women. Its typical localization is near the hepatic hilus. It may become malignant, and therefore careful histological examination of the entire resected specimen is mandatory. Incomplete excision results in recurrence and occasionally in malignant alteration. The authors present a 66-year old woman who presented with the right upper abdominal pain and occasional vomiting, and who was diagnosed with cystic lesion of the right lobe of the liver. The lesion was totally excised by an open operation. It was filled with mucinous viscous fluid and there was proliferation in one part of the internal surface. The cystic lesion communicated with the common hepatic duct through a tiny duct (above the cystic duct), but in spite of that, it did not contain bile. Histological examination showed mucinous cystadenoma with focal malignant alteration. After the uneventful recovery, the pain and vomiting were eliminated and she has remained symptom free so far

Pendular stromal tumour of the stomach with dominant PDGFRA immunoexpression: Case report and short literature review

Introduction. Gastrointestinal stromal tumours are most frequent mesenchimal tumours of the gastrointestinal tract that originate from Cajal’s interstitial cells that are most frequently CD-117 positive. Stromal tumours of the stomach are the most frequent mesenchimal tumours of the gastrointestinal tract. Such tumours are usually sessile, but rarely pendular when they can be easily removed with a limited local excision of the stomach wall around the pedicle. Major stomach resections are rarely necessary. Case Outline. In a 54-year-old woman with abdominal pain and fever of unknown aetiology, a large spherical mobile and almost painless mass was found within the upper right abdomen. US and CT showed a mainly cystic, partly solid tumour, of 15.5×12.5 cm in diameters. Laboratory data including tumour markers were within normal limits. At operation a mobile and free tumour of the stomach attached to the anterior wall with a 2.5 cm pedicle was found and easily excised. Abdominal mucosa was normal. There was no liver metastasis or peritoneal dissemination. Hystology and imunohistochemistry showed a rare sclerosing sincitial subtype of stromal tumour with imunophenotype heterogenicity with a dominant PDGFRA and rare CD-117 immunoexpression. The postoperative recovery was uneventful. The patient was symptom-free with no sign of recurrence after a year and a half. Conclusion. A rare subtype of histological highly malignant stromal tumour of the stomach, macroscopically of pendular type, that was easily excised, was presented which so far showed a favourable evolution with no signs of recurrence

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Tuberculous lymphadenitis as a cause of obstructive jaundice: A case report and literature revie