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)

Desmoplastic small round cell tumor is a rare, aggressive neoplasm that mainly affects young male patients and is characterized by a reciprocal translocation t(11;22)(p13;q12) associated with the EWS-WT1 gene fusion transcript. Clinical, histopathologic, immunohistochemical, and molecular genetics features were reviewed for 32 tumors. There were 29 male and three female patients, with ages from 6 to 54 years (mean, 25 years). The main clinical signs and symptoms included abdominal pain (eight patients), weight loss (five patients), and presence of umbilical hernia (four patients). Two tumors primarily involved the ethmoid sinus and the soft tissues of the scalp; the other tumors (mean size, 10 cm) involved the abdominal cavity (88%). One patient presented initially with an axillary lymph node metastasis. Generally, all tumors showed the typical histologic findings of variably sized clusters of small, round, or spindled cells lying in a desmoplastic stroma. The neoplastic cells in formalin-fixed, paraffin-embedded tissue sections were positive for desmin (dot pattern) (81% of the cases), WT1 (91%), keratin (87%), neuron-specific enolase (84%), CD99 (23%), and actin (3%). The EWS-WT1 gene fusion transcript was detected in 29 of 30 tumors. One tumor with typical clinicopathologic and immunohistochemical features did not show the gene fusion. Follow-up for 27 patients showed that 19 patients (70%) died of uncontrolled, local, or widespread metastatic disease 3-46 months (mean, 20 months) after diagnosis, and eight patients were alive with known evidence of disease. Occasionally, desmoplastic small round cell tumor lacks the classic clinical, histologic, and immunohistochemical features. This study emphasizes the utility of analysis of the EWS-WT1 gene fusion transcript, which was performed on paraffin-embedded tissues, to confirm the diagnosis.
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PMID:Desmoplastic small round cell tumor: a clinicopathologic, immunohistochemical, and molecular study of 32 tumors. 1213 Nov 50

We report a case of primitive neuroectodermal tumor (PNET) arising in the transverse colonic mesentery. A 24-year-old Japanese woman was admitted to Kagoshima City Hospital with complaints of abdominal pain and sensations of abdominal fullness of 5 months' duration. On palpation, a mass the size of an infant's head was noted in the right flank. Abdominal computed tomography (CT) and ultrasonography showed a huge mass that consisted of multiple cystic components. On arteriography, a slight tumor stain appeared, with stretched and displaced tributaries of the right colic and middle colic arteries. Barium swallow examination demonstrated that the ascending colon was shifted to the right and small intestine to the left. We performed an en-bloc resection of the tumor in the transverse colonic mesentery, including the ascending colon, proximal jejunum (20 cm in length), and greater omentum. The resected tumor was 12 x 10 x 7 cm in size, 590g in weight, elastic soft in consistency, and multicystic. Histologically, the specimens showed a sheet-like proliferation of spindle-to-polygonal cells, and focally, the tumor formed rosette structures. Immunohistochemically, the tumor cells were positive for neuron-specific enolase (NSE) and mic-2. EWS-FLI1 chimeric mRNA was detected by reverse transcriptase-polymerase chain reaction (RT-PCR). Based on the above findings, we finally diagnosed the tumor as PNET of the colonic mesentery. There has been no recurrence for 20 months after operation. PNET arising in the mesentery is very rare, and we distinguished PNET from other tumors by immunohistochemical examination and by demonstration of the presence of EWS-FLI1 chimeric mRNA in the tumor.
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PMID:Primitive neuroectodermal tumor of the transverse colonic mesentery defined by the presence of EWS-FLI1 chimeric mRNA in a Japanese woman. 1216 13

Plexiform schwannoma is a benign peripheral nerve sheath tumor composed exclusively of schwann cells arranged in a plexiform pattern. Most plexiform schwannomas are skin tumors and there has been only one case report of this tumor originating in the colon. We describe herein the first known case of plexiform schwannoma of the small intestine occurring without any relationship to schwannomatosis or neurofibromatosis. A 57-year-old man presented with a short history of abdominal pain, vomiting, and bloody stool after each meal. Jejunography demonstrated multiple nodular tumors in the small intestine. We resected the small intestine laparoscopically. The tumors consisted of multiple white nodules in the submucosal and subserosal layers. Microscopic examination revealed that each tumor was composed mainly of Antony A tissue, compatible with conventional schwannoma. Immunohistochemically, the tumors were positive for S-100, vimentin, and neuron-specific enolase, and negative for HHF35, Alpha-SMA, and c-kit. No evidence of recurrence has been found in 38 months of follow-up.
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PMID:Plexiform schwannoma of the small intestine: report of a case. 1466 89

Clinical histories, endoscopic ultrasound (EUS)-guided fine-needle aspiration (FNA) material, and immunohistochemical stains performed on cell block samples of 6 solid-pseudopapillary tumors of the pancreas (SPTPs) were reviewed in the cases of 5 females (13-58 years) and 1 man (57 years); all had abdominal pain. Preliminary cytologic diagnoses at endoscopy included 1 SPTP 2 low-grade neoplasms, and 3 pancreatic endocrine tumors. Variable numbers of branching fragments with central capillaries and myxoid stroma were seen in the smears of 5 of 6 cases but were more apparent in the cell block material of all cases. The cells had bland nuclear features and rare grooves. Extensive necrosis was noted in 1 case and rare mitotic figures in 1. SPTPs showed strong cellular immunoreactivity for vimentin and focal weak keratin reactivity. Neuron-specific enolase, alpha1-antitrypsin, and alpha1-antichymotrypsin stains performed in 2 cases were strongly positive. Subsequent surgical resection confirmed all diagnoses. EUS-guided FNA diagnosis of SPTP is accurate. The characteristic branching papillae with myxoid stroma are best seen in cell block slides. Clinical setting, cytomorphologic features, and immunostains of the cell block help distinguish SPTP from pancreatic endocrine tumors, acinar cell carcinoma, and papillary mucinous carcinoma.
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PMID:Endoscopic ultrasound-guided fine-needle aspiration cytology diagnosis of solid-pseudopapillary tumor of the pancreas: a rare neoplasm of elusive origin but characteristic cytomorphologic features. 1515 Dec 5

Carcinoid tumors are common in the duodenum except for in the Vater's papilla [1-9]. We report here a case of carcinoid tumor arising in the Vater's papilla with repeated episods of pancreatitis. The patient is a 28 year-old-woman who had repeated abdominal pain with elevated serum amylase and had been treated as chronic pancreatitis. Computed tomography (CT) revealed a slight dilatation of the main pancreatic duct from the pancreatic head to the tail, and mild swelling of the pancreas. A submucosal tumor measuring 1.3 cm in diameter was detected in the ampulla of Vater by esophagogastroduodenscopy (EGD), and total papillectomy was performed under the suspicious of carcinoid tumor. The tumor was not encapsulated, 1.0 cm in diameter, undefined, and whitish in color. Histologically monomorphic tumor cells with lightly eosinophlic cytoplasm and round nuclei proliferate in trabecular and solid patterns. Immunohistochemically tumor cells were positive for neuron-specific enolase, chromogranin A and synaptophysin, and the tumor was diagnosed as carcinoid tumor. It should be noted that carcinoid tumor in the ampulla may occur with initial signs of acute or chronic pancreatitis.
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PMID:Carcinoid tumor of the Vater's papilla presenting with chronic pancreatitis--a case report--. 1642 77

Solid pseudopapillary tumours of the pancreas (SPTP) are a distinct clinico-pathological entity that differs from the other cystic pancreatic neoplasms in the young age of onset, the almost exclusive incidence in the female sex and the low degree of malignancy. SPTP is a rare neoplasm that has shown a progressive increase of incidence, passing from 0.17%-2.7% of all exocrine tumours of the pancreas in the 1980's, to 6% in recent reports in 2003. In addition, it accounts for about 5% of cystic neoplasms of the pancreas. With the present paper, in the world literature, updated to August 2005, 887 cases have been described in 248 articles. The histogenesis of these epithelial neoplasms remains uncertain though it is likely that they originate from pluripotent immature pancreatic cells. The tumour is generally of large size and invariably presents a capsule. The diagnosis in most cases is based on compressive symptoms, pain or finding of a palpable mass, while in about 20% of the patients the finding is occasional during abdominal imaging performed for other pathologies. CT and MR are not always sufficient to differentiate with certainty between this type of tumour and other cystic neoplasms of the pancreas such as pseudocysts, parasitic cysts and congenital cysts. Cytological examination in most cases permits the diagnosis of SPTP. The malignancy of these neoplasms is attenuated and local with capsular invasion, lymp-node spread and, only rarely, liver and peritoneal metastases. The surgical treatment has to be radical since the malignancy can only be defined by postoperative histological examination. The treatment consists of three possible options: duodenocephalopancreatectomy, intermediate pancreatectomy, and distal pancreatectomy with or without splenectomy. Intraoperative histological examination is mandatory for the diagnostic confirmation and for the evaluation of negativity of the pancreatic resection margins. Survival after radical resection is excellent. Moreover, in forma metastasizing to the liver an aggressive attitude may be still curative and assure longer survival. The Authors report their experience with three female patients with an average age 18 years (28,19 and 8 years) operated on between 1995 and 2000 for SPTP. Two of the patients were asymptomatic and the finding of the tumour was occasional. The third patient presented jaundice and abdominal pain. The average diameter of the tumours was 6 cm (4, 7 and 7 cm). In all three cases tumour marker values (CEA, Ca19-9, alphaFP) were normal. Only in one case was the preoperative diagnosis correct. The surgical treatment depended on the location of the neoplasms: for the two tumours in the head, in one case an enucleoresection was performed in relation to an exophytic location, while, in the other, a duodenocephalopancreatectomy was performed. In the somatopancreatic tumour a distal splenopancreatectomy was performed. Only in one case (the DCP) the capsule and the surrounding parenchyma were infiltreted by neoplasm. In all cases there was immunohistochemical positivity for alpha1-antitrypsin and for neuron-specific enolase. Neither mortality nor operative morbidity were observed. Follow-up with CT found no relapses in any of the three patients after 5, 7 and 10 years, respectively, after the operation.
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PMID:[Solid pseudopapillary tumor of the pancreas. A report of 3 cases and a review of the literature]. 1673 74

Adenoendocrine cell carcinoma of the gallbladder is an uncommon form of cancer. We treated a 36-year-old woman who came to us with a chief complaint of abdominal pain. The abnormality was diagnosed to be a tumor-like mass in the gallbladder, and adenomyomatosis of the gallbladder was strongly suspected. A laparoscopic cholecystectomy was successfully performed, and the histopathological finding was adenoendocrine cell carcinoma of the gallbladder. The tumor cells of the small round cell carcinoma partly stained positively for synaptophysin, neuron-specific enolase, and CD 56, while adenocarcinoma cells showed positive reactions to keratin, which was thus suggestive of adenoendocrine cell carcinoma. The patient is alive and doing well at 12 months after the treatment.
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PMID:Adenoendocrine cell carcinoma of the gallbladder: report of a case. 1693 95

A 34-year-old, previously healthy female presented with severe acute upper quadrant abdominal pain and an 11-cm cystic mass in the tail of the pancreas. The patient underwent distal pancreatectomy with total gross excision of the mass. Grossly, the mass consisted of a multiloculated cystic lesion measuring 11.7 cm in its greatest dimension. An irregular solid lobulation at the lateral aspect of the cyst was visible, measuring 3 cm in the largest dimension. Histologically, there were two distinct components: a mucinous, neoplastic epithelial cyst with few foci of moderate atypia, and nodular spindle cell areas containing multinucleated tumor giant cells. Immunohistochemically, the multinucleated giant cells were positive for vimentin, CD68 and CD45, and negative for cytokeratin and epithelial membrane antigen (EMA). The spindle cells of hypercellular stroma were stained for vimentin, but not for EMA or carcinoembryonic antigen (CEA). Neuron-specific enolase (NSE), S100 and Ki-67 showed no reactivity. The histological diagnosis "osteoclast-like giant cell tumor of the pancreas associated with borderline mucinous cystic neoplasm" was made. The patient recovered and is free of disease 4 years after the diagnosis.
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PMID:A case of osteoclast-like giant cell tumor of the pancreas associated with borderline mucinous cystic neoplasm. 1849 71

Reports about adrenocortical carcinomas (AC) mixed with sarcomatous areas are very rare. The terminology and pathogenesis of such biphasic tumors remain controversial. Herein, we report a case of sarcomatoid carcinoma of the adrenal gland in a 75-year-old woman who presented with left abdominal pain of one month's standing. The results of abdominal ultrasonography and computed tomography (CT) showed the presence of a large heterogeneous adrenal mass. A left adrenalectomy and complete splenectomy were performed. Histologically, the neoplasm showed areas of adrenocortical carcinoma and areas of sarcomatoid spindle cell proliferation. When examined immunohistochemically, the carcinomatous cells stained positively for S-100 protein, Melan-A protein, and neuron-specific enolase (NSE), and focally for vimentin and the cytokeratin marker MNF 116. Also, the carcinomatous cells were immunoreactive to the monoclonal antibody HMB-45. The sarcomatous component expressed vimentin, as well as other smooth and skeletal muscle markers. Liver metastases appeared 3 months postoperatively. Twelve months after removal of the primary tumor, the patient died of her disease. To the best of our knowledge, only seven cases of adrenal sarcomatoid carcinoma have been reported in the medical literature. We review the reported cases according to the 2004 classification of the World Health Organization (WHO) of lung tumors, and highlight the histogenesis, diagnosis, and clinical course of this very aggressive tumor.
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PMID:Sarcomatoid carcinoma of the adrenal gland: A case report and review of literature. 1936 12

Primary esophageal small cell carcinoma (PESCC) is a relatively rare and aggressive tumor with poor prognosis. Systemic spreading and metastasis often occur at diagnosis. Although 5-year survival rate of superficial squamous cell carcinoma of the esophagus can be 86.1%, 5-year survival rate of superficial PESCC is still relatively low. This study mainly retrospectively analyzed clinicopathological and immunohistochemical features of 15 cases of superficial PESCC in our hospital from 1990 to 2004, in order to find suitable diagnostic markers and applicable therapies for this disease. The records mainly included presenting symptoms, demographics, diagnostic method, histopathology, follow-up, and therapy. Immunohistochemical staining of chromogranin A (CgA), neuron-specific enolase (NSE), synaptophysin (Syn), neuronal cell adhesion molecules (CD56), thyroid transcription factor-1 (TTF-1), cytokeration 34betaE12 (CK34betaE12), cytokeratin (AE1/AE3), and cytokeratin 10/13 was performed. Incidence of superficial PESCC accounted for 4.8% of that of superficial carcinoma of the esophagus during the same period. Initial symptoms of all patients were dysphagia or accompanied with retrosternal pain and upper abdominal pain, and duration of these symptoms was 75 days averagely. Mean age of patients was 58.8 years old, and the male-to-female ratio was 2.75 : 1. Lesions were mainly located at middle thoracic esophagus. One, 2, and 5-year survival rates were 66.7, 33.3, and 6.7%, respectively. The median survival time was 19 months and mean survival time was 23.7 months after diagnosis. The percentages of PESCC samples with positive immunoreactivity were NSE 100%, Syn 100%, AE1/AE3 100%, CD56 93.3%, TTF-1 60%, CgA 53.3%, CK34betaE12 6.7%, and cytokeratin 10/13 0%, respectively. Our study suggested that PESCC was a rare and aggressive tumor with high malignancy. Superficial PESCC had rapid progression and poor prognosis compared with superficial squamous cell carcinoma of the esophagus at the same stage. The systemic therapy based on combination of postoperative chemotherapy and radiotherapy might be an effective approach for the treatment of superficial PESCC as a systemic disease. Higher proportion of positive labeling of NSE, Syn, AE1/AE3, CD56, TTF-1, and CgA in PESCC was valuably applied in diagnosis and differential diagnosis.
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PMID:Superficial primary small cell carcinoma of the esophagus: clinicopathological and immunohistochemical analysis of 15 cases. 1951 93


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