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)

Catecholamine-secreting metastatic carcinoid should be considered in differential diagnosis of malignant pheochromocytoma. Paroxysmal functioning or hormonally silent gastroenteropancreatic neuroendocrine tumors (GEP NETs) require repeat biochemical measurements and sensitive anatomic and functional imaging studies overlapping those for malignant pheochromocytoma. This report presents clinical, laboratory, and radiologic findings in a patient presenting with heart rate variability; vasoactive headaches reactive to ethanol, tyramine and tryptophan; labile blood pressure; diaphoresis; diarrhea; abdominal pain; unexplained pancreatitis; joint pain; and paroxysmal flushing with pallor. GI studies (including endoscopic ultrasound) and multiple imaging modalities (including 2D CT, MRI with gadolinium, [18]FDG PET/CT, [123I]MIBG, and SRS [111In]Octreotide [OctreoScan]) were not diagnostic. 24-h BP, Holter and 30-day cardiac event monitors plus urinary biochemical studies consistently suggested catecholamine-synthesizing NET. NIH plasma metanephrines studies and [6]-[18F]Fluorodopamine PET ruled out malignant pheochromocytoma (pheo). Repeated studies showed persistently abnormal GEP NET biomarkers and urinary catecholamines. Capsule endoscopy revealed suspicious submucosal lesions throughout the small intestine. Dual-phase 64-slice multidetector computed tomography (MDCT) with 3D volumetric reconstruction of the abdomen and pelvis revealed multiple diffuse liver metastases and three extrahepatic lesions consistent with metastatic carcinoid. In combination, intensive biochemical testing repeated over time, dual-phase 64-slice MDCT with 3D image reconstruction and volume-rendering (VR) technique, and advanced radionuclide imaging are required to detect NETs' sporadic or paroxysmal functioning, rule out extra-adrenal pheochromocytoma, and localize and characterize metastatic carcinoid. If pheochromocytoma is ruled out, yet symptoms and biochemical markers for catecholamine excess are present, then carcinoid and other amine-precursor-uptake decarboxylation (APUD) tumors must remain in the differential diagnosis.
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PMID:Catecholamine-secreting metastatic carcinoid as differential diagnosis in pheochromocytoma: clinical, laboratory, and imaging clues in the search for the lurking neuroendocrine tumor (NET). 1710 73

A 66-year-old man with history of acute myeloid leukemia (AML) presented with B-symptoms and abdominal pain. A CT scan of the abdomen demonstrated an enlargement of the head and uncinate of pancreas and diffuse lymphadenopathy. The patient developed respiratory distress and expired. An autopsy of the pancreas revealed clusters of large, atypical cells, which morphologically and immunophenotypically were consistent with CD30 positive, ALK-negative anaplastic large cell lymphoma (ALCL) of T-cell lineage and multifocal fat necrosis (panniculitis) in the peripancreatic adipose tissue. This is the first case of ALCL of the pancreas and panniculitis in a patient with history of AML.
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PMID:Anaplastic large cell lymphoma with involvement of the pancreas presenting as panniculitis in a patient with a history of acute myeloid leukemia--case report and review of the literature. 1719 61

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

Systemic mastocytosis is an uncommon condition characterized by abnormal proliferation of mast cells in one or more organ. The specific D816V KIT mutation is present in most cases. Gastrointestinal symptoms occur commonly but histologic characterization of gastrointestinal involvement is incomplete. The purpose of this study was (1) to describe the clinicopathologic features in five patients with systemic mastocytosis involving the gastrointestinal tract and (2) to determine whether gastrointestinal involvement is associated with the usual D816V mutation or a different mutation. Clinical details were obtained from the hospital of origin or referring pathologist. Histologic features were documented in slides stained with hematoxylin and eosin, mast cell tryptase and CD117. Molecular analysis for the D816V KIT mutation was performed on formalin-fixed paraffin-embedded sections. Symptoms included diarrhea/loose stools (n=5), abdominal pain (n=4), vomiting (n=3) and weight loss (n=3). Other findings included cutaneous lesions of mastocytosis (n=4), malabsorption (n=2), hypoalbuminemia (n=2) and constitutional growth delay (n=1). Sites of gastrointestinal involvement included the colon (n=5), duodenum (n=3) and terminal ileum (n=3). Endoscopic/gross findings included mucosal nodularity (n=4), erosions (n=2) and loss of mucosal folds (n=2). In three patients the endoscopic appearance was considered consistent with inflammatory bowel disease. All cases showed increased mast cell infiltration of the lamina propria, confirmed by immunohistochemistry for mast cell tryptase and CD117. In two cases, mast cells had abundant clear cytoplasmic resembling histiocytes. Marked eosinophil infiltrates were present in four patients, in one patient leading to confusion with eosinophilic colitis. Architectural distortion was noted in three cases. The D816V KIT mutation was present in all four cases tested. In conclusion, gastrointestinal involvement by systemic mastocytosis is characterized by a spectrum of morphologic features that can be mistaken for inflammatory bowel disease, eosinophilic colitis or histiocytic infiltrates. Systemic mastocytosis involving the gastrointestinal tract is associated with the usual D816V KIT mutation.
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PMID:Systemic mastocytosis involving the gastrointestinal tract: clinicopathologic and molecular study of five cases. 1893 52

LIGHT acted as a new player in the atherogenesis. The dried, unripe fruit of Evodia Fructus (EF) has long been used as a traditional Chinese herbal medicine, and is currently widely used for the treatment of headache, abdominal pain, vomiting, colds and reduced blood circulation. Evodiamine and rutaecarpine are active components of EF. In this study, we investigated the inhibitory effect of evodiamine and rutaecarpine on LIGHT-induced migration in human monocytes. Evodiamine and rutaecarpine decreased the LIGHT-induced production of ROS, IL-8, monocyte chemoattractant protein-1 (MCP-1), TNF-alpha, and IL-6, as well as the expression of chemokine receptor (CCR) 1, CCR2 and ICAM-1 and the phosphorylation of the ERK 1/2 and p38 MAPK. Furthermore, NADPH oxidase assembly inhibitor, AEBSF, blocked LIGHT-induced migration and activation of CCR1, CCR2, ICAM-1, and MAPK such as ERK and p38 in a manner similar to evodiamine and rutaecarpine. These findings indicate that the inhibitory effects of evodiamine and rutaecarpine on LIGHT-induced migration and the activation of CCR1, CCR2, ICAM-1, ERK, and p38 MAPK occurs via decreased ROS production and NADPH oxidase activation. Taken together, these results indicate that evodiamine and rutaecarpine have the potential for use as an anti-atherosclerosis agent.
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PMID:Evodiamine and rutaecarpine inhibit migration by LIGHT via suppression of NADPH oxidase activation. 1924 41

Gastrointestinal stromal tumours (GISTs) are sarcomas arising in the gastrointestinal tract. They are characterised by a gain in function mutation of the KIT oncogene and the majority express the receptor tyrosine kinase KIT, which can be detected by the immunohistochemical stain CD117. Patients with a GIST present with symptoms such as abdominal pain or gastrointestinal bleeding, or may be asymptomatic. We describe the clinical history and pathological features of a patient with a GIST who presented with a paratesticular mass which, to our knowledge, has never previously been reported. With the development of new drugs to treat GISTs, the knowledge of the type of mutations may in the future prove helpful in determining optimal treatment strategies and prognosis.
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PMID:Gastrointestinal stromal tumour with a KIT exon 11 mutation presenting as a paratesticular mass. 1938 57

HER2 (v-erb-b2 erythroblastic leukemia viral oncogene) is a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. Since the discovery of a role for HER2 and other EGF receptors in the development and progression of cancer, they have become targets for a number of targeted anti-cancer drugs. These drugs have proven to be effective in treating and managing a range of cancers, however, recent observations in the clinic have suggested that their administration causes many toxicities, including gastrointestinal toxicity. Drugs with HER2 inhibitory activity fall into two categories; the monoclonal antibodies and small molecule tyrosine kinase inhibitors. Both of these drug classes have been shown to induce symptoms consistent with mucositis development; including nausea and vomiting, diarrhoea and abdominal pain. However, to date, limited studies have been carried out to justify the source of these toxicities. This review summarizes our current knowledge of the toxicities associated with commonly used HER2 targeted therapy drugs, the role of HER2 in cancer and the healthy gastrointestinal tract and the possible mechanisms by which drugs with HER2 inhibitory activity can induce gastrointestinal damage and possibly mucositis in patients.
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PMID:HER2 targeted therapies for cancer and the gastrointestinal tract. 1951 56

Inflammatory myofibroblastic tumor of the liver is an uncommon lesion of uncertain pathogenesis that has a unique histological appearance. Symptomatology and clinical findings in most cases suggest malignancy, and despite the advances in imaging techniques, the preoperative diagnosis of this tumor is difficult. We describe herein a case of inflammatory myofibroblastic tumor of the liver with a review of the literature. A mass occupying the right lobe of the liver was excised in a 48-year-old woman, who previously presented with weakness, fever, progressive weight loss, and right upper abdominal pain. The lesion was an unencapsulated light brown tumor (largest diameter 6 cm) without necrosis or hemorrhage. The characteristic histopathological features and the presence of spindle cells expressing smooth muscle actin and anaplastic lymphoma kinase allowed the diagnosis of inflammatory myofibroblastic tumor. The present case and the review revealed that inflammatory myofibroblastic tumor of the liver is not limited to younger age groups and males. Moreover, the rare occurrence of inflammatory myofibroblastic tumor of the liver and the lack of diagnostic clinical signs and symptoms do not exclude consideration of inflammatory myofibroblastic tumor in the differential diagnosis of liver tumors, especially in patients with tumor markers in normal ranges.
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PMID:Inflammatory myofibroblastic tumor of the liver: a case report. 1953 46

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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