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 (GI) stromal tumors (GISTs), the specific KIT- or PDFGRA-signaling driven mesenchymal tumors, are the most common mesenchymal tumors of the GI tract. This study analyzed 1091 tumors originally classified as smooth muscle tumors of the small intestine (including jejunum or ileum and excluding duodenum), and found that 906 (83%) of these were GISTs. The GIST patients had 55:45 male-to-female ratio with a median age of 59 years (range, 13-94 years). Only 0.6% of tumors occurred before the age of 21 years and 13.6% before the age of 40 years. The tumors varied from 0.3 to 40 cm (median, 7.0 cm) and most commonly presented with GI bleeding or acute abdomen; 18% were incidentally detected. Histologically, the tumors were relatively monotypic with spindle cell (86%), epithelioid (5%), or mixed patterns (9%). Skeinoid fibers were present in 44% of cases, and their presence was associated with a favorable course. Most epithelioid tumors were malignant, and this morphology sometimes emerged from less cellular and less mitotically active spindle cell tumors, suggesting that it represented a transformation. KIT was immunohistochemically detected in 98%, CD34 in 40%, smooth muscle actin in 34%, desmin in 0.2%, and S-100 protein in 14% of the tumors tested. Outcome was strongly dependent on tumor size and mitotic activity, with an overall 39% tumor-related mortality, twice that for gastric GISTs. Only <3% of tumors <5 cm and < or = 5 mitoses/50 HPF metastasized, whereas 86% of tumors >10 cm and >5 mitoses/50 HPF metastasized. In stark contrast to corresponding gastric tumors, tumors >10 cm with mitotic activity < or = 5/50 HPF and those < or = 5 cm with mitoses >5/50 HPF had a high metastatic rate (>50%); tumors >5 cm < or = 10 cm with low mitotic rate had a 24% metastatic rate. The median survival times of patients with low mitotic rate tumors who died of disease decreased by increasing tumor size. KIT exon 11 mutations were detected in 90 cases, exon 9 mutation in 17 cases, and exon 17 mutation in 1 case; the presence of mutation or mutation type was not prognostically significant. There were no PDGFRA exon 12 or 8 mutations. Systematic data on prognosis of small intestinal GISTs of various size and mitotic activity categories can be helpful in management and surveillance of patients with these tumors.
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PMID:Gastrointestinal stromal tumors of the jejunum and ileum: a clinicopathologic, immunohistochemical, and molecular genetic study of 906 cases before imatinib with long-term follow-up. 1700 Nov 71

Visceral involvement in acute non-lymphocytic leukemia (ANLL) seldom precedes hematological manifestation. We report on a patient with M4 - ANLL presenting with acute abdomen without any evidence of blood disorder. Laparotomy revealed only ileal wall oedema. Postoperative clinical deterioration led to a second-look operation combined with intraoperative endoscopy. Biopsied tissues were diffusely infiltrated by blasts characterised as HLA-DR (+), PGM1 (50% +), MPO (50% +) and CD 34 (-). Bone marrow reconfirmed these findings and showed positivity for CD4 (44%), CD11b (50%), CD11c (42%), CD13 (33%), CD34 (32%), and CD56 (54%). Chemotherapy achieved a complete but short remission. Relapse occurred 7 months later. Immediately after consolidation chemotherapy the profoundly immunosuppressed patient passed away after a lower respiratory tract infection. We discuss the contrast between histology and short disease duration, the unusual presentation and the bad prognosis, and attempt to correlate the clinical course with the coexpression of markers.
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PMID:Acute abdomen as initial manifestation of M4 - acute non-lymphocytic leukemia. 1734 43

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

Splenic angiosarcomas are usually secondary tumours, and only few primary cases have been encountered. We report a unique primary case of epithelioid angiosarcoma arising in the spleen in a male patient 55-year-old and presented to our hospital as a medical emergency with acute abdomen and haemorrhagic ascitis. CT revealed splenic focal lesion and suggested that this abdominal haemorrhage was due to ruptured splenic haemangioma, thus abdominal exploration and splenectomy were done. The histopathological examination showed an infiltrating ill-defined growth formed of high grade epithelioid cells arranged in sheet-like growth pattern, with occasional papillary appearance. The presence of rudimentary vascular channels lined by epithelioid endothelial cells with occasional intraluminal erythrocytes suggested vascular tumour origin. The neoplastic cells showed diffuse expression of CD31 together with focal expression of cytokeratin (CK) and CD34. Because of its epithelioid morphology and unmistakable positivity for CK, this case may be easily misdiagnosed as a metastatic carcinoma, which is not uncommon finding in the spleen. Epithelioid angiosarcoma is a rare type of vascular tumour in the spleen, which co-expresses vascular and epithelial markers making its distinction from metastatic carcinoma is sometimes difficult.
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PMID:Primary Epithelioid Angiosarcoma of Spleen: A Case Report and Review of Literature. 2689 76