Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0677930 (primary tumor)
 20,210 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on the first case of benign perineurially differentiated peripheral nerve sheath tumor (perineurioma) presenting as a bleeding gastric mass in a 30-year-old, previously healthy woman with no signs or stigmata of von Recklinghausen's disease or other primary tumor at time of presentation. Gastric resection specimen revealed an ulcerated moderately cellular mesenchymal tumor consisting of elongated wavy spindle cells arranged in a fascicular and sheet-like pattern with focal whorling and occasional alternation of dark staining cellular and light staining hypocellular areas. Tumor cells were strongly immunoreactive for epithelial membrane antigen, CD56 (N-CAM), and vimentin, but were negative for S-100-protein and other lineage-specific epithelial, mesenchymal, hematolymphoid, and reticulo-histiocytic markers. CD117 revealed numerous positive staining mast cells, but the lesional cells were not reacting. We presume that the combined histological and immunohistochemical profiles of this unusual gastric neoplasm are consistent with a diagnosis of perineurioma with a probably benign biological behavior. To our knowledge, this is the first report of gastric perineurioma, an extremely rare mesenchymal lesion that should be considered among the differential diagnoses of gastrointestinal stromal tumor, especially the so-called KIT-negative GIST. Gastrointestinal perineuriomas might be under-recognized, as our case was initially diagnosed as a benign GIST.
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PMID:Perineurioma of the stomach. A rare spindle cell neoplasm that should be distinguished from gastrointestinal stromal tumor. 1613 53

Myofibrosarcoma is a rare neoplasm that occurs mainly in the head and neck region and extremities of middle-aged patients. It often appears as a low-grade sarcoma and rarely metastasizes. We report the case of a 47-year-old male patient with a malignant mesenchymal pulmonary tumor affecting almost the entire lower left lobe. Clinically suggestive for a lung carcinoma, the tumor showed typical features of a myofibrosarcoma. A major spindle cell component was observed being positive for smooth-muscle actin, calponin, and vimentin, while stainings for desmin, h-caldesmon, alkaline phosphatase (ALK), and extensively studied cytokeratins were negative. Striking was a strong infiltrate with neutrophilic and eosinophilic granulocytes. DNA cytometry revealed aneuploidy with a peak in the near triploid range. Comparative genomic hybridization demonstrated multiple DNA gains and losses correlating with an aggressive clinical course. Shortly after resection of the primary tumor, the patient showed multiple distant metastases in the contralateral lung, the mediastinal lymph nodes, the left adrenal gland, and the pectoral and deltoid muscle, which responded well to chemotherapy. The case report will discuss the evidence for the final diagnosis of a primary pulmonary myofibrosarcoma and the differential diagnosis of sarcomatoid tumors of the lung.
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PMID:Unusual sarcomatoid neoplasm of the lung suggesting a myofibrosarcoma. 1615 84

Spindle epithelial tumor with thymus-like differentiation (SETTLE) is an extremely rare type of thyroid tumor. It has been reported only 20 times in the English literature. This tumor occurs predominantly in young patients and has a protracted clinical course despite the occurrence of metastases. In the recent literature SETTLE has been considered to be a tumor of low malignant potential with distant metastases developing some years after diagnosis. Herein we report a case of SETTLE in a 22-yr-old man in which a lymph node metastasis developed soon after the primary tumor manifestation. Histological examination of the tumor showed the predominantly monophasic variant of SETTLE. The primary and metastatic lesions were highly cellular tumors composed of sheets of spindle cells that were positive for pan-cytokeratin and vimentin and negative for thyroglobulin, calcitonin, and S-100 protein.
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PMID:Spindle epithelial tumor with thymus-like differentiation (SETTLE) of the thyroid with neck lymph node metastasis: a case report. 1619 99

Significant improvements in the outcome of non-small cell lung carcinoma (NSCLC) have been reported in patients treated with the epidermal growth factor receptor (EGFR) inhibitor, erlotinib. To discover biomarkers for the enrichment of patients who might benefit from treatment, a pharmacogenomic approach was used to identify gene signatures that may predict erlotinib activity using in vitro model systems. Erlotinib sensitivity in a panel of 42 NSCLC cell lines was determined by EGFR-mediated proliferative potential, EGFR mutations, and/or EGFR gene amplification, thus supporting an underlying biological mechanism of receptor activation. A strong multigene signature indicative of an epithelial to mesenchymal transition (EMT) was identified as a determinant of insensitivity to erlotinib through both supervised and unsupervised gene expression approaches. This observation was further supported by expression analysis of classic EMT marker proteins, including E-cadherin and vimentin. To investigate the clinical relevance of these findings, we examined expression of the epithelial marker E-cadherin by immunohistochemistry on primary tumor samples from subjects enrolled in a randomized NSCLC clinical trial in which erlotinib in combination with chemotherapy previously failed to show clinical activity. The majority (75%) of the 87 subjects tested showed strong E-cadherin staining and exhibited a significantly longer time to progression (hazard ratio, 0.37; log rank P=0.0028) and a nonsignificant trend toward longer survival with erlotinib plus chemotherapy treatment versus chemotherapy alone. These data support a potential role for EMT as a determinant of EGFR activity in NSCLC tumor cells and E-cadherin expression as a novel biomarker predicting clinical activity of the EGFR inhibitor erlotinib in NSCLC patients.
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PMID:Epithelial versus mesenchymal phenotype determines in vitro sensitivity and predicts clinical activity of erlotinib in lung cancer patients. 1636 34

We report a case of gastrointestinal stromal tumor (GIST) that developed in a male F344 rat at week 101 of an experiment in a carcinogenicity study. Macroscopically, the primary tumor, which measured 1 cm in diameter, involved the submucosal tissue of the forestomach at the lesser curvature extending to the glandular stomach and esophagus. Histopathologically, the tumor was composed of neoplastic cells with small- to medium-sized spindle-shaped single nuclei and fibrillary cytoplasm lacking distinct cell borders. It invaded extensively into the tunica muscularis and subserosa, further extending to the lamina propria mucosa and serosal surface. A few densely proliferating portions showed a tendency to storiform pattern. Metastatic tumor nodules were found in the liver, spleen, and femur bone marrow, with multiple nodules, up to 1 cm in diameter, apparent in the liver. Immunohistochemically, diffuse, but weak cytoplasmic immunoreactivity for KIT was evident, and most neoplastic cells also exhibited strong immunoreactivity for a -smooth muscle actin and vimentin. Sparse nuclear S-100-immunoreactive cells were further observed, but none of neoplastic cells were immunoreactive for CD34, caldesmon, desmin, cytokeratin, or synaptophysin. Collectively, these features meet the criteria for a GIST, with limited potential for differentiation to smooth muscle and neural cells.
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PMID:A case report of a spontaneous gastrointestinal stromal tumor (GIST) occurring in a F344 rat. 1653 95

Basal cell adenocarcinoma (BCAC) of the salivary glands is rare. Distant metastasis to the mandible from a salivary gland tumor is also considered rare. The cytogenetic finding of a case of metastatic BCAC of the mandible is described. We are unaware of earlier reports regarding cytogenetic findings of BCAC either at the primary site or at a distant metastasis site. An 80-year-old female with primary BCAC of the parotid salivary gland underwent parotidectomy and chemotherapy. One year later, a metastatic lesion in the mandible was found. Tissue specimens from the mandibular lesion were tested by the following pathologic methods: hematoxylin-eosin and immunohistochemistry for CK8/18, CK/903, vimentin, and smooth muscle actin. The characteristic histologic architecture of BCAC found in the mandible was similar to that of the earlier findings of the tumor in the parotid gland. A fresh sample from the mandibular lesion was examined by cytogenetics and fluorescence in situ hybridization (FISH), using centromeric probes for chromosomes 4, 8, 10, 18, and 22. A paraffin-embedded sample of the primary tumor was also examined by FISH. Cytogenetic and FISH analyses of the mandibular metastatic lesion revealed a clone with a pericentric inversion of chromosome 17 and a clone with trisomy 4, respectively. Trisomy 4 was also found in the paraffin-embedded samples of the primary parotid tumor.
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PMID:Cytogenetic and fluorescence in situ hybridization analysis of a basal cell adenocarcinoma of the mandible. 1663 78

Solid pseudopapillary tumor is a rare, indolent neoplasm almost exclusively seen in the pancreas. We describe an unusual case of solid pseudopapillary tumor arising in the greater omentum of a 45-year-old man with subsequent multiple liver metastases and peritoneal dissemination. The patient underwent a total of ten laparotomies and died of unresectable disease 8 years after the initial presentation. Microscopically, the primary tumor and the relapsed tumors consistently exhibited identical growth patterns, which were characterized by solid sheets intermingling with pseudopapillary arrangements of uniformly small cells. Immunohistochemical staining was diffusely positive for vimentin and focally positive for alpha-1-antitrypsin. These features were compatible with those of conventional pancreatic solid pseudopapillary tumors. We also performed quantitative evaluation of Ki-67 immunoreactivity and mitotic figures, which indicated malignant transformation of this extremely rare tumor. This is the first detailed report of solid pseudopapillary tumor arising outside the pancreas complicated by repetitive liver metastases and peritoneal carcinomatosis, suggesting the existence of a more lethal subgroup of tumors.
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PMID:A solid pseudopapillary tumor arising from the greater omentum followed by multiple metastases with increasing malignant potential. 1669 62

Sclerosing epithelioid fibrosarcoma is a rare tumor recently described. The histological presentation can be confused with certain soft tissue benign tumors and certain sarcomas. Metastatic spread is usually late in the natural course of the disease. We report a case of recurrent sclerosing epithelioid fibrosarcoma with pleural metastases which developed ten years after surgical resection of the primary tumor. The tumor was formed by small uniform round epithelioid cells with a clear cytoplasm. The tumor cells were strongly positive for vimentin. This clinical case is discussed in light of other cases reported in the literature.
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PMID:[Pleural metastases of sclerosing epithelioid fibrosarcoma]. 1684 Sep 96

Disappearance of E-cadherin is a milestone for epithelial-mesenchymal transition (EMT), found both in carcinomas and in some fibrotic diseases. We have studied the mechanisms of EMT in oral squamous cell carcinoma (SCC) cells isolated from primary tumor (43A) and its recurrent tumor (43B). Whereas the cells from primary carcinoma displayed a typical phenotype of squamous epithelial cells including E-cadherin and laminin-332 (laminin-5), cells from recurrent tumor expressed characteristics of dedifferentiated, EMT-experienced tumors. 43B cells expressed E-cadherin repressors ZEB-1/deltaEF1 and especially ZEB-2/SIP1, which therefore appear as candidates for endogenous EMT in these cells. Differences between endogenous and exogenous EMT were assessed by transfecting 43A cells with SNAIL cDNA. SNAIL-transfected cells showed complete EMT phenotype with fibroblastoid appearance, vimentin filaments, E-cadherin/N-cadherin switch, lack of hemidesmosomes and, as a new feature of EMT, lack of laminin-332 synthesis. Upregulation of ZEB-1 and ZEB-2 was evident in these cells, suggesting that SNAIL can regulate these E-cadherin repressors. New monoclonal antibodies against SNAIL showed nuclear immunoreactivity not only in the SNAIL-transfected cells but also in carcinoma cells lacking production of Lm-332 and showing signs of EMT. These results suggest that changes in the epithelial cell differentiation program and EMT in SCC cells can result from the interplay among several E-cadherin repressors; however, SNAIL alone is able to accomplish a complete EMT.
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PMID:Snail-dependent and -independent epithelial-mesenchymal transition in oral squamous carcinoma cells. 1689 64

Solid pseudopapillary tumor is an unusual primary tumor of the pancreas with a low potential for malignancy and unknown cell origin, seen mostly in young women. Although it is discussed among pancreatic epithelial tumors, many cases do not express cytokeratin but show neuroendocrine differentiation. Three cases (2 female, 1 male, aged 24, 45 and 50 years, respectively) of solid pseudopapillary tumor localized in the pancreas are presented. All cases displayed a well-circumscribed tumor, with an average diameter of 6 cm and a red-brown colored, hemorrhagic, cystic cut surface. Microscopically they were encapsulated with large areas composed of thin papillary formations and solid areas focally. Tumor cells were dyscohesive with small, round- to-oval, central nuclei, and vacuolated, clear or eosinophilic cytoplasm without mitotic activity. NSE, vimentin, synaptophysin, ER, PR, Ki-67, S-100, Pan CK, a1-antitrypsin, a2-antichymotrypsin, and antibodies were used in the immunohistochemical study. Vimentin, synaptophysin, NSE, PR, and a1-antitrypsin showed expression in all cases, while Pan-CK was expressed in two cases. Ki-67 expression was below 1% in all cases. Morphologic features of solid pseudopapillary tumor may be confused with pancreatic endocrine neoplasm and ductal adenocarcinoma. All cases showed features of histiocytic and neuroendocrine differentiation. Epithelial differentiation was identified in two cases. We conclude that immunohistochemistry is incapable of giving additional information for the diagnosis of solid pseudopapillary tumor due to different lines of differentiation of tumor cells. We believe that macroscopic and microscopic features (using hematoxylin and eosin stain) are more important for the diagnosis and differential diagnosis of this tumor.
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PMID:Solid pseudopapillary tumor of the pancreas: emphasis on differential diagnosis from aggressive tumors of the pancreas. 1694 Dec 59


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