Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P10415 (Bcl-2)
 33,771 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The characterization of clinical, histopathological, immunohistochemical, and genetic features of intimal sarcomas arising in the pulmonary artery is presented in this study. Four resected lungs, one endarterectomy specimen and three biopsies from eight patients (four males and four females; median age 41 years) suffering from intimal sarcomas of the pulmonary artery using conventional stains, immunohistochemistry, and comparative genomic hybridization (CGH) were analyzed. The predominant clinical presentation was dyspnea (all eight patients) and febrile pulmonary disease (six of eight). Signs of embolic lung disease were present in all patients. One patient died postoperatively, six patients died of disease 8-35 months after presentation, and one patient was alive 6 months after surgery. Histopathological examination of the submitted material showed spindle cell, partially myxoid and pleomorphic sarcomas. Metastases were histologically confirmed in three patients (lung, pleura, and skull). Immunohistochemically, vimentin was strongly expressed in all tumors. Focal positivity was observed for alpha smooth muscle actin, CD117, CD68, p53, and bcl2. No reaction could be obtained for endothelial markers. The proliferation index Ki-67 was between 5% and 80%. Six examined tumors were positive for mdm2. In the CGH analysis, gains and amplifications in the 12q13-14 region were found in six of eight tumors (75%). Other, less consistent alterations, were losses on 3p, 3q, 4q, 9p, 11q, 13q, Xp, and Xq, gains on 7p, 17p, and 17q, and amplifications on 4q, 5p, 6p, and 11q. Intimal sarcomas of the pulmonary artery are tumors with an unfavorable prognosis and poorly differentiated morphology. A majority of tumors show a consistent genetic alteration (gains and amplifications in the 12q13-14 region) and overexpression of mdm2, implicating the mdm2/p53 pathway as a possible mechanism in the tumor pathogenesis.
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PMID:Gains of 12q13-14 and overexpression of mdm2 are frequent findings in intimal sarcomas of the pulmonary artery. 1121 36

Microcystic adnexal carcinoma (MAC) is the prototype for a subset of locally aggressive adnexal carcinomas (LAACs). Ultraviolet radiation (UVR) and UVB signature p53 mutations are implicated in the etiology of the most common cutaneous carcinomas. However in MACs, the role of UVR and p53 mutations is unknown. In addition, controversy still exists regarding the patterns of differentiation within these tumors. The objective of this study was to determine the expression patterns of immunohistochemical markers for p53, Ki-67, c-erbB-2, and Bcl-2 in MACs, and to compare these patterns with two MAC histologic stimulants: sclerosing type basal cell carcinomas (sBCCs) and desmoplastic trichoepitheliomas (dTEs). Other objectives were to compare expression patterns of cytokeratin (CK) AE1/AE3, CK7, CD20, endothelial membrane antigen (EMA), Ber-EP4, CD34, alpha-smooth muscle actin (SMA), and S-100 protein in MACs with its histologic simulators, and to determine the usefulness of all the immunohistochemical studies in diagnosis. Immunohistochemical markers were performed on 10 MACs, 10 sBCCs, and four dTEs. They included p53, Ki-67, c-erbB-2, Bcl-2, CK AE1/AE3, CK7, CD20, EMA, Ber-EP4, CD34, S-100 protein, and alpha-SMA. MACs expressed p53 in less than 25% of the tumor cells in only two cases (20%), and both cases showed only moderately intense staining, whereas 80% of the sBCCs were positive and showed intense staining, and all dTEs were negative. In MACs, less than 5% of the tumor cells were Ki-67 positive, whereas the sBCCs showed 20% to 40% Ki-67-positive tumor cells and dTEs showed rare Ki-67-positive cells. Bcl-2 was expressed focally in MACs, diffusely in sBCCs, and in scattered cells in dTEs. All tumors were negative for c-erbB-2. CD34, CK7, EMA, Ber-EP4, S-100 protein, and alpha-SMA all showed a distinctive pattern of staining in MACs. Although MACs arise commonly in chronically sun-exposed skin, increased expression of p53 is not found frequently. Overexpression of c-erbB-2 does not appear to be a factor in the development and progression of these adnexal tumors. Bcl-2 is expressed in MACs, but not diffusely as in sBCCs. The low level of Ki-67 supports a low proliferative rate, and other immunohistochemical markers support divergent patterns of adnexal differentiation in MACs. Immunohistochemical studies may help to differentiate MAC from sBCCs and dTEs.
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PMID:Microcystic adnexal carcinoma: an immunohistochemical study including markers of proliferation and apoptosis. 1125 20

We report a case of solitary fibrous tumor involving the spinal nerve root at the L1-L2 level in a 67-year-old man. The patient presented with lumbar pain and weakness in his right lower extremity. Histologically, the tumor was composed of a proliferation of monomorphous spindle cells in an abundant collagenous stroma; neither necrosis nor mitoses were evident. These cells were strongly immunoreactive with CD34, Bcl-2, CD99, and vimentin, but were negative with S100 protein, smooth muscle actin, and epithelial membrane antigen. Such an immunohistochemical profile was consistent with a solitary fibrous tumor of the spinal nerve rootlet and ruled out the main differential diagnoses, schwannoma and meningioma. The present case suggests that solitary fibrous tumor should be considered in differentiating spindle cell lesions of the spinal cord and nerve rootlet.
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PMID:Solitary fibrous tumor of the spinal nerve rootlet: report of a case mimicking schwannoma. 1498 50

Mesenchymal proliferations presenting as mucosal polyps are relatively uncommon and are represented by gastrointestinal stromal tumors, smooth muscle and neural tumors, and inflammatory fibroid polyps. In this report, we describe the clinicopathologic features of a distinctive type of mucosal polyp composed of cytologically bland spindled cells with fibroblastic features. Fourteen cases with histologic features of"fibroblastic polyps" were identified from our case files from January 2000 to December 2003. The clinical and endoscopic findings were reviewed. Immunohistochemistry using a panel of antibodies (vimentin, smooth muscle actin, desmin, CD31, CD34, Bcl-2, c-Kit, S-100, and epithelial membrane antigen) was performed in all cases, and electron microscopy was performed in two cases. The lesions were solitary in all cases and not associated with an identifiable polyposis syndrome. Associated adenomata and/or hyperplastic polyps at different sites were present in 10 cases and hyperplastic polyps were seen in close association in 3 cases. These polyps were characterized by a monomorphic spindle cell proliferation in the lamina propria, without necrosis or mitotic activity. The lesions were intimately associated with the muscularis mucosae and resulted in wide separation and disorganization of the colonic crypts. Immunohistochemical analysis revealed strong and diffuse positivity for vimentin only. Weak and focal reactivity was noted in 2 cases for CD34 and smooth muscle actin, while staining for other antibodies was negative. Electron microscopy revealed sparse cytoplasmic organelles and many intermediate filaments. The histology and ultrastructural and immunohistochemical findings are suggestive of fibroblastic differentiation of these spindle cells. In summary, these lesions represent a distinctive type of colonic mucosal polyp that should be distinguished from other stromal polyps of the gastrointestinal tract.
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PMID:Benign fibroblastic polyps of the colon: a histologic, immunohistochemical, and ultrastructural study. 1537 61

Malignant melanoma is known to display tremendous histologic diversity. One rare variant is the rhabdoid phenotype, so called because of the appearance of cells resembling rhabdomyoblasts seen in malignant rhabdoid tumors of the kidney. We present the histologic, immunohistochemical, and ultrastructural features of a malignant melanoma composed entirely of rhabdoid cells. A 62-year-old man presented with a 6.5-cm lung mass. Although presumed to be a metastatic lesion, extensive workup failed to reveal a primary tumor site. Histologic sections showed a mass composed entirely of polygonal neoplastic cells with prominent nucleoli and large hyaline cytoplasmic inclusions. The tumor cells were strongly immunoreactive with S100 protein, vimentin, and CD56, and were focally reactive with Mart-1. Tumor cells were negative for Melan-A, tyrosinase, HMB-45, AE1/AE3, cytokeratin (CK) 7, CK8/ 18, CK20, CK903, CAM 5.2, epithelial membrane antigen, smooth muscle actin, desmin, leukocyte common antigen, Bcl-2, CD3, CD20, CD30, CD138, kappa and lambda light chains, CD68, CD34, factor VIII, synaptophysin, and glial fibrillary acidic protein. Electron microscopy showed cytoplasmic whorls of intermediate filaments containing entrapped rough endoplasmic reticulum, mitochondria, and lipid. Recognition of this rare variant of malignant melanoma is important in the evaluation of tumors with rhabdoid morphology.
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PMID:Malignant melanoma with a rhabdoid phenotype: histologic, immunohistochemical, and ultrastructural study of a case and review of the literature. 1516 28

The immunohistochemical analysis of the spindle cell lipomas has been for the most part limited to the study of S-100 protein, CD34, and Bcl-2 reactivity. To evaluate the immunoexpression of desmin and actins in spindle cell lipomas of different histological subtypes a retrospective immunohistochemical study of 25 spindle cell lipomas using archival formalin-fixed, paraffin-embedded tissue was performed. Strong positivity of the spindle cell component for desmin was found in 4 of 25 cases (16%). The expression was diffuse in two cases and focal (in up to 25% of the spindle cells) in the other two. Two of these cases were of the classical type and the other two were angiomatous spindle cell lipomas. Desmin-positive and desmin-negative spindle cells showed no morphological differences. The spindle cell component expressed CD34 in all cases and Bcl-2 in 14 of the 25 cases. There was no immunoreactivity for smooth muscle actin, muscle-specific actin, or S-100 protein. We conclude that a significant proportion of spindle cell lipomas express desmin, and therefore that the immunoreactivity for this antigen does not exclude the diagnosis, even in lesions with nonclassical histological features and/or atypical locations.
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PMID:Desmin expression in spindle cell lipomas: a potential diagnostic pitfall. 1532 74

We report a distinctive angiomyxofibromatous lesion arising from the falx cerebri of a 48-year-old woman. The tumor was composed of bland-appearing, spindle, and stellate cells in a myxoid matrix with prominent vascularity. The tumor cells were immunopositive diffusely for vimentin and focally for S-100 protein, but were immunonegative for epithelial membrane antigen, CD34, MIC2, Bcl-2, glial fibrillary acidic protein, cytokeratin CAM 5.2, desmin, and smooth muscle actin. This lesion could not be categorized according to the current World Health Organization classification of tumors of the nervous system, thus underscoring a need to enhance our understanding of myxoid mesenchymal neoplasms and reassess their nosology.
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PMID:Angiomyxofibromatous tumor of the falx cerebri. 2614 67

To further define the clinicopathologic spectrum of epithelial-myoepithelial carcinoma (EMCa), we report the gross, histologic, and immunophenotypic characteristics of 61 tumors seen within a 30-year-period. The mean age at presentation was 60.9 years, with a female predominance (1.5:1). The most common sites were parotid (62.1%), sinonasal mucoserous glands (10.3%), palate (8.6%), and submandibular (8.6%). Most EMCas showed a characteristic nodular/multinodular growth pattern and classic biphasic tubular histology. However, new morphologies in EMCa such as ancient change (8.2%), "Verocay"-like change (3.3%), and sebaceous differentiation (13.1%) were noted. Specific histologic variants were dedifferentiated EMCa (3.3%), oncocytic EMCa (8.2%), EMCa ex pleomorphic adenoma (1.6%), double-clear EMCa (3.3%), and EMCa with myoepithelial anaplasia (3.3%). All cytokeratin cocktails selectively highlighted the epithelial component well. Of the myoepithelial markers, p63, smooth muscle actin and vimentin performed best. Bcl-2 and c-kit were frequently positive (66.7% and 69.2%, respectively). p53 was highly expressed only in 1 dedifferentiated EMCa. The recurrence rate was 36.3% (median disease-free survival 11.34 y), but death was rare with 5-year and 10-year disease-specific survivals of 93.5% and 81.8%, respectively. The most important univariate predictors of recurrence were margin status (log rank P=0.006), angiolymphatic invasion (P=0.002), tumor necrosis (P=0.004), and myoepithelial anaplasia (P=0.038). Thus, EMCa is generally a low-grade tumor with a broader morphologic spectrum than previously thought, with several key features predictive of recurrence. Immunohistochemistry can aid diagnosis by highlighting the biphasic nature of the tumor.
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PMID:Epithelial-myoepithelial carcinoma: a review of the clinicopathologic spectrum and immunophenotypic characteristics in 61 tumors of the salivary glands and upper aerodigestive tract. 1719 18

Desmoplastic small round cell tumor typically presents with abundant desmoplastic stroma containing nested primitive round cells bearing a polyphenotypic immunohistochemical profile. Lesions with minimal classic morphology pose a formidable diagnostic challenge. The current case represents one such example, arising as a large abdominal-pelvic mass in a 17-year-old female patient. The tumor was composed of a monomorphous population of small round cells lining microcystic structures and forming pseudoacini and fine anastomosing trabeculae and cords. The stroma was abundantly myxoid with only occasional thick desmoplastic septa. The tumor cells were variably immunopositive for vimentin, desmin, smooth muscle actin, synaptophysin, neuron-specific enolase, Bcl-2 and WT1 (nuclear); epithelial markers were negative. The definitive diagnosis of desmoplastic small round cell tumor was rendered with the demonstration of the characteristic EWS-WT1 gene fusion by fluorescence in situ hybridization. The current case emphasizes the utility of fluorescence in situ hybridization to demonstrate EWS-WT1 gene fusion in desmoplastic small round cell tumor with nonclassic morphologic and immunohistochemical features to avoid potential misdiagnosis.
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PMID:Epithelial marker-negative desmoplastic small round cell tumor with atypical morphology: definitive classification by fluorescence in situ hybridization. 1742

Inflammatory myofibroblastic tumor is a rare lesion composed of myofibroblastic spindle cells accompanied by inflammatory infiltrate. The objective of this paper is to report an uncommon case of inflammatory myofibroblastic tumor located in the alveolar mucosa of the mandible. A 33-year-old male presented an asymptomatic tumoral lesion, firm, pedunculated, pink-colored, covered by smooth mucosa, with focal ulceration, measuring 30x20x20 mm, located in the left posterior alveolar mucosa. Clinical diagnosis was soft tissue tumor. An excisional biopsy was made. Microscopic examination showed compact fascicular spindle cells proliferation with a diffuse inflammatory infiltrate of plasma cells, lymphocytes, and eosinophils. Large ganglion-like cells were observed. The lesional cells were immunopos-itive to vimentin, a-smooth muscle actin, muscle specific actin, and CD68. Negative immunostain was observed to S-100, Bcl-2, Ki-67, desmin, CD34, and cytokeratin. A diagnosis of inflammatory myofibroblastic tumor was performed. After 28 months of follow-up there was no recurrence. Although no evidence of oral inflammatory myofibroblastic tumor recurrence or malignant transformation has been reported, it has been observed that in inflammatory myofibroblastic tumor of other regions a prolonged follow-up is necessary after surgical excision.
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PMID:Inflammatory myofibroblastic tumor of the alveolar mucosa of the mandible. 1842 72


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