Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000727 (acute abdomen)
 3,084 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Gastrointestinal autonomic nerve tumour (GANT) is a rare mesenchymal neoplasm of the gastrointestinal tract arising from the neural plexus of the intestinal wall. Herein, we present a 70-year-old male patient presenting with a clinical picture of acute abdomen. Examination of the specimen obtained from the small bowel by means of complete resection revealed a relatively soft submucosal mass measuring 4.5 x 3 cm in size with spindle morphology and high mitotic activity (> 10 mitoses per 50 high-power fields). The tumour cells were strong positive for c-kit (CD117), S-100 protein and glial fibrillary acidic protein (GFAP), but did not harbour mutations in the c-kit and PDGFR genes. The diagnosis was based on light microscopy and immunohistochemical verification. We started tyrosine kinase inhibitor 400 mg/day. The patient is currently alive without metastasis at 28 months postoperatively. He is under close follow-up and survival data of the patient will be presented in the later studies.
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PMID:Gastrointestinal autonomic nerve tumour of jejunum presenting as a perforated mass. 2486 46

A 72-year-old Japanese male with acute abdomen underwent emergency surgery for a preoperative diagnosis of stercoral colonic perforation of the sigmoid colon. A pathological examination revealed a proliferating spindle cell lesion that surrounded the perforation and replaced the muscularis propria without any mass formation. The spindle cells were positive for KIT and CD34 by immunohistochemistry, and somatic mutation of the c-kit gene was found using genomic DNA extracted from the lesion. We diagnosed the spindle cell lesion as a planar gastrointestinal stromal tumor (GIST). We speculate that perforation of the sigmoid colon in this case may be caused by the stasis of stool resulting from abnormal peristalsis of the lesional site. Two other similar cases have been reported in the literature, and showed good prognoses. Although their pathogenesis is unclear, planar GISTs should be considered as a possible cause of idiopathic or stercoral colonic perforation.
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PMID:A planar gastrointestinal stromal tumor replacing the proper muscle layer causing fecaloma and perforation in the sigmoid colon: a case report and literature review. 2618 82