Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of solitary fibrous tumor (SFT) arising from a kidney. The patient was an 18-year-old female who visited our hospital with the complaint of left abdominal pain. Computed tomography revealed a slightly enhanced tumor of approximately 3 cm in diameter near the upper calyx of the left kidney. Renal cell carcinoma was suspected, and left nephrectomy was performed under laparoscopy. Histopathological examination revealed proliferation of CD34-positive spindle-shaped cells, and a diagnosis of SFT was made. There has been no local recurrence or distant metastasis for 15 months after the operation.
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PMID:[Solitary fibrous tumor of a kidney: a case report]. 1704 55

Leiomyomas are rare esophageal disorders, although among the benign esophageal neoplasms, they are the most common. Multiple leiomyomas are distinguished from esophageal leiomyomatosis, an extremely rare condition, which is associated with Alport syndrome, showing deletions and rearrangements of the COL4A5/COL4A6 gene. There are only a few reports of diffuse multilocular lesions. A 19-year-old man presented with upper gastrointestinal bleeding and diffuse abdominal pain. On endoscopy multiple nodules covered with intact mucosa were present, the largest tumor arising from the gastro-esophageal border infiltrating the cardia. Barium swallow demonstrated narrowing of the middle and lower esophagus with the upper third of the stomach filled by the tumor. Thorax and abdominal CT scans revealed infiltration of almost the total aboral esophagus by the tumor with compression of left and right bronchi. The infiltration reached the whole lesser curvature of the stomach. Endosonography showed multiple encapsulated nodules. Due to the extended tumor growth with infiltration of the upper third of the stomach, a total esophago-gastrectomy with reconstruction by colon interposition was performed. On histopathological examination multiple esophageal leiomyomas with infiltration of the proximal third of the stomach was shown. Immunohistochemically the tumor stained positive for desmin and sm-actin and negative for CD34 and c-kit. Genetic analysis ruled out a deletion of the COL4A5/COL4A6 locus on chromosome X that is linked with Alport syndrome-diffuse leiomyomatosis. Extended mutations in the COL4A5 gene, associated with Alport syndrome, to the COL4A6 gene, are required for the development of leiomyomatosis. In young patients with diffuse multinodular infiltration by encapsulated tumors, esophageal leiomyomatosis should be considered. If the proximal third of the stomach is infiltrated by the tumor an extended resection is necessary. Reconstruction procedures include colon interposition.
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PMID:Multiple giant leiomyomas of the esophagus and stomach. 1706 96

This case report presents an incidental finding of a rectal GIST (gastrointestinal stromal tumor) presenting as a submucosal calculus, not previously reported. A 53-year-old man without a significant medical history presented with abdominal pain in the left lower quadrant, and with constipation. Upon rectal examination, a hard submucosal swelling was palpated 4 cm from the anus, at 3 o'clock, in the left rectum wall. X-ray photos, computerized tomography (CT)-scan and a magnetic resonance imaging (MRI) scan clearly showed a calculus. Excision revealed a turnip-like lesion, 3.1 x 2.3 x 1.8 cm. Analysis showed it was a rectal GIST, a rare mesenchymal tumor of the gastrointestinal tract, which expressed CD117 (or c-kit, a marker of kit-receptor tyrosine kinase) and CD34. Calcification is not a usual clinicopathological feature of GISTs [1-3], and although a number of rectal GISTs have been reported [4-9], we have found no cases so far of rectal GIST presenting as a submucosal calculus. In general, GISTs are rare mesenchymal tumors of the gastrointestinal tract (nerve tissue, smooth muscle). Histology and immunohistochemistry discriminate gastrointestinal stromal tumors from leiomyomas and neurinomas. The most important location is the stomach; the rectal location is rare. Usually, the classic signs of malignancy such as cellular invasion and metastasis are missing. A set of histologic criteria stratifies GIST for risk of malignant behavior such as mitotic activity and tumor size, cellular pleomorphism, developmental stage of the cell and quantity of cytoplasma [7,13]. Tumors with a high mitotic activity and size above 5 cm are considered malignant. Recent pharmacological advances such as tyrosine kinase inhibitors have determined c-kit (i.e., CD117) as the most important marker, amongst others. C-kit positive tumors respond extremely well to chemotherapy with Imatinib (Glivec, Gleevec) [10-12].
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PMID:Rectal GIST presenting as a submucosal calculus. 1726 37

Solitary fibrous tumor (SFT) is an unusual mesenchymal neoplasm that most often arises in the pleura; however, it has recently been described in a number of extrapleural sites. This report describes an extremely rare case of a benign SFT arising in the pancreas. A 41-year-old woman presented in the clinic with right upper abdominal pain. Subsequent ultrasonographic studies revealed a 1.5x1.5x1.4 cm hypoechoic mass within the pancreatic body, which was later confirmed on both helical computerized tomography and magnetic resonance imaging studies. An endocrine tumor was clinically suspected. Laparoscopic enucleation of the mass was performed. Microscopically, the tumor was composed of bland uniform spindle cells arranged between collagen bundles. On immunohistochemical studies, these spindle cells were positive for CD34 and bcl-2 but negative for cytokeratin (AE1+AE3 and Cam5.2), smooth muscle actin, desmin, S-100, and c-kit. Based on the light microscopic morphology and immunohistochemical staining profile, the diagnosis of SFT was rendered.
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PMID:Solitary fibrous tumor of the pancreas: a case report. 1765 47

Epithelioid hemangioendothelioma is a rare vascular origin tumor which usually occurs in soft tissues, liver, and lung. It usually affects adult women and presents as multiple hepatic nodules with mainly peripheral distribution. It is difficult to diagnose and treat because of non-specific clinical manifestations and findings on the imaging study. Moreover, pathological misdiagnosis is common. We report a case of this rare tumor that was detected incidentally. Final diagnosis was based on histological evidence. A 52-years old man suffered from right upper quadrant abdominal pain for 3 months, and was initially misdiagnosed as a metastatic carcinoma. Physical examination revealed superior cervical lymphadenopathy with mild hepatomegaly. Finally, hepatic epithelioid hemangioendothelioma was diagnosed on the basis of positive immunohistochemical staining for factor VIII, CD34, and VEGF. Our case highlights the importance of a histological diagnosis to avoid misdiagnosis.
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PMID:[A case of primary hepatic epithelioid hemangioendothelioma mimicking metastatic carcinoma]. 1817 61

We report the rare occurrence of an inflammatory fibroid polyp of the appendix. The lesion was diagnosed in a 33-year-old woman presenting with abdominal pain, fever and localized tenderness in right iliac fossa on abdominal palpation. CT-scan showed an 8 cm appendiceal mass and a laparoscopic appendectomy was consequently performed. On microscopic examination, the tumor consisted of spindle cells dispersed in a loose fibromyxoid stroma containing numerous blood cells and inflammatory cells with abundant eosinophils. On immunohistochemistry, the spindle tumor cells were positive for vimentin, fascin and focally for CD34 and CD35. They were negative for smooth muscle actin, desmin, CD21, CD23, CD117 and S100 protein. Inflammatory fibroid polyp is a rare benign mesenchymal tumor of the gastrointestinal tract rarely reported in the appendix. This tumor shares some common pathologic features with the myofibroblatic inflammatory tumor but they are two different entities. The pathogenesis of this tumor remains unclear but fascin and CD35 immunoreactivity of the tumor cells suggests a probable dendritic cell origin.
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PMID:[Inflammatory fibroid polyp, a rare tumor of the appendix]. 1835 80

Lymphangioma of the pancreas is an extremely rare benign tumour of lymphatic origin, with fewer than 60 published cases. Histologically, it is polycystic, with the cysts separated by thin septa and lined with endothelial cells. Though congenital, it can affect all age groups, and occurs more frequently in females. Patients usually present with epigastric pain and an associated palpable mass. Complete excision is curative, even though, depending on the tumour location, surgery may be simple or involve extensive pancreatic resection and anastomoses. The authors present a 49-year-old woman in whom a polycystic septated mass, 35 mm multiply 35 mm in size, was discovered by ultrasonography (US) in the body of the pancreas during investigations for epigastric pain and nausea. At surgery, a well circumscribed polycystic tumor was completely excised, with preservation of the pancreatic duct. The postoperative recovery was uneventful. Histology confirmed a microcystic lymphangioma of the pancreas. Immunohistochemistry showed cystic endothelial cells reactivity to factor VIII-RA (++), CD31 (+++) and CD34 (-). Postoperatively, abdominal pain disappeared and the patient remained symptom free for 12 mo until now. Although extremely rare, lymphangioma of the pancreas should be taken into consideration as a differential diagnosis of a pancreatic cystic lesion, especially in women.
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PMID:Cystic lymphangioma of the pancreas. 1905 18

A 77-year-old man was admitted to our hospital with abdominal pain and ascites. He had an occupational history of working with asbestos. Abdominal CT showed multiple nodular lesions with enhancement by contrast medium in the cavity. Platelet counts, CRP and serum IL-6 level were increased. Biopsied materials obtained by laparoscopy showed oval cells with rich cytoplasm growing in an epithelial pattern. To clarify the characteristics of the cells, immunohistochemistry was performed. Calretinin and CK5/6 were positive, and CEA, S-100 protein, c-kit and CD34 were negative, result in confirmation of a diagnosis of malignant mesothelioma. Because IL-6, IL-6 receptor and VEGF were expressed markedly, the patient received chemotherapy for IL-6 suppression. During the treatment, thrombocytosis imploved satisfactorily.
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PMID:[A case of IL-6 producing malignant mesothelioma of abdomen with thrombocytosis]. 1934 24

Spontaneous rupture of gastrointestinal stromal tumor (GIST) with hemoperitoneum is an extremely rare clinical presentation of this mesenchymal tumor. We report the unusual case of a 68-year-old man who was admitted to the hospital with abdominal pain. While waiting for the results of his laboratory tests the patient became pale and tachycardic and his abdomen distended with generalized rebound tenderness. A CT scan suggested rupture of a cavernous angioma of the liver and the patient was brought to the operating room for an explorative laparoscopy, which revealed hemoperitoneum from a ruptured giant gastric GIST. After conversion to laparotomy, the tumor was excised: it was 11 x 10 x 5 cm in size, with massive necrosis and clotted blood inside. Immunohistochemical examination revealed reactivity to c-KIT and CD34, consistent with the diagnostic criteria for GIST, with low mitotic activity (< 5/50 HPF). The postoperative course was uneventful, and the clinical and radiological follow-up at 6 months is negative for recurrence.
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PMID:Spontaneous rupture of giant gastric GIST presenting as hemoperitoneum and mimicking cavernous liver angioma. 1957 71

The author herein reports histopathologic features of 31 surgical cases of gastrointestinal stromal tumor (GIST) of the digestive organs. The 31 cases of GIST were diagnosed in our pathology laboratory. They consisted of 24 cases of gastric GIST, 1 case of hepatic GIST, 1 case of small intestinal GIST, 4 cases of colon GIST, and 1 case of rectal GIST. The age of the patients ranged from 56 year to 84 years with a mean of 71 years. Male to female ratio was 21:10. The presenting symptoms were gastrointestinal bleeding in 13 cases, abdominal pain and discomfort in 13 cases, and asymptomatic in 5 cases. Endoscopy and imaging modalities including US, CT and MRI were useful to detect the tumors in all cases, and biopsies confirmed the GIST diagnosis in 21 cases. The size of GIST ranged from 1 cm to 12 cm with a mean of 4.3 cm. Grossly, 23 cases were submucosal tumors, 6 serosa-side tumors, 1 solid tumor in the liver, and 1 rectal polyp. Histologically, 28 cases were of spindle cell type and 3 of epithelioid type. According to mitotic counts and tumor size, the malignant risk was very low in 4 cases, low in 14 cases, intermediate in 9 cases, and high in 4 cases. Immunohistochemically, all cases were positive for KIT and vimentin, 30 cases for CD34, and 4 cases for alpha-smooth muscle actin. None were positive for desmin and S100 protein. Ki-67 labeling ranged from 2% to 18%. P53 protein was negative in all cases. PDGFRA was positive in 20 cases among 24 cases examined. Genetic analysis using PCR-direct sequencing method was performed in 5 GISTs; all the 5 GISTs showed point mutations or deletions in KIT gene, but did not in PDGFRA gene. The 5 cases of GIST were positive for PDGFRA protein, suggesting that PDGFRA overexpression is not associated with PDGFRA gene mutations. Four of the 31 cases showed metastases. The chemotherapy was imatinib mesylate in 6 cases, and none in 25 cases. Four cases of high risk died of GIST, and 27 cases are alive now without tumors.
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PMID:Gastrointestinal stromal tumor of the digestive organs: a histopathologic study of 31 cases in a single Japanese institute. 2012 84


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