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

Gastrointestinal stromal tumors are the most common mesenchymal tumors of the gastrointestinal tract. These tumors are present in almost all case mutations of KIT-CD117. When located in different places other than the gastrointestinal tract they are called extragastrointestinal stromal tumors (EGISTs). We present the case of a 70-year old patient with abdominal pain. Computed tomography (C/T) and ultrasound (U/S) indicated the existence of a hypoechoic enlarged 9.6 x 10 cm uterus due to leiomyoma. The clinical condition of the patient deteriorated and obtained the characteristics of an acute abdomen. The patient underwent urgent exploratory laparotomy, which revealed the incidental existence of a large tumorous formation in the pouch of Douglas. A total abdominal hysterectomy, bilateral ovarectomy, omentectomy, and tumor resection from the rectouterine pouch were performed. Histology analysis confirmed the diagnosis of a malignant EGIST. EGISTs are infrequent in pelvis. In our case, pelvic EGIST led to an acute pain symptomatology obtaining characteristics of invasive uterine leiomyosarcoma. Pelvic imaging with classical methods of U/S and C/T may lead to confusion and false diagnosis. To the best of our knowledge, this is the first case report about an EGIST located in the rectouterine pouch of Douglas leading to acute abdomen symptomatology.
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PMID:Extragastrointestinal stromal tumor mimicking a uterine tumor. A rare clinical entity. 1798 44

Gastrointestinal stromal tumors are the most common mesenchymal tumors of the gastrointestinal tract. These tumors are present in almost all cases of KIT-CD117 mutations. When located outside the gastrointestinal tract, they are referred to as extra-gastrointestinal stromal tumors. We present a case of a 72-year-old female with acute abdomen. Computed tomography detected intestinal obstruction and failed to determine the causative pathology. The patient underwent urgent exploratory laparotomy, which revealed pelvic extra-gastrointestinal tumor originating from the broad ligament of the uterus. This case is unique with regard to symptoms and the unusual anatomic location of the mass. Surgeons should be aware of the extra-gastrointestinal stromal tumor entity and its manifestations and management.
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PMID:Extra-gastrointestinal stromal tumor presenting as a surgical emergency. 2603 9

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