Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P04637 (p53)
 77,613 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 24 year old man had a two year history of a painless mass on his right popliteal region. Magnetic resonance imaging demonstrated a 6 x 8 cm tumour mass in the lateral gastrocnemius. Histological examination of the tumour resected by radical surgery revealed that it consisted of myoblastic sarcoma and chondrosarcoma. Immunohistochemical studies were positive for Ki-67 and p53 throughout the area and for S-100 protein in the chondrosarcomatous area; in addition, they showed partial positivity for muscle common actin (HHF-35), smooth muscle actin, and myoglobin in the spindle cells. The percentages of Ki-67, p53, and p21/WAF1 positive cells in the spindle cell component were 34%, 65.7%, and < 0.1%, respectively. In addition, staining was negative for pancytokeratin, desmin, and glial fibrillary acidic protein. The SYT-SSX, TLS-CHOP, and EWS-FLI1 fusion genes were not detected using the reverse transcription polymerase chain reaction. Given the results, the definitive histological diagnosis is malignant mesenchymoma. This is the first report of malignant mesenchymoma of the lower leg with immunohistochemical and molecular studies.
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PMID:Malignant mesenchymoma of the lower leg. 1168 25

The objective of the present study was to analyze the role of the mesothelial markers desmin and N-cadherin in the diagnostic panel of serous effusions. A total of 181 pleural and peritoneal effusions consisted of 101 cases cytologically diagnosed as malignant (89 carcinomas, 12 mesotheliomas), 78 benign, and 2 inconclusive specimens. All specimens were immunostained using 11 antibodies, against epithelial membrane antigen, Ber-EP4, carcinoembryonic antigen, E-cadherin, CA 125, N-cadherin, desmin, calretinin, p53, vimentin, and CD45. After evaluation of immunocytochemistry results, 110 specimens were diagnosed as malignant (98 carcinomas, 12 mesotheliomas) and 71 as benign (56 cellular, 15 paucicellular). The presence of desmin was detected in benign mesothelial cells in 47 of 56 (84%) reactive cellular specimens compared with 1 of 12 (8%) malignant mesotheliomas and 2 of 98 (2%) carcinomas. N-cadherin was expressed in 48 of 56 (86%) reactive cases, 12 of 12 (100%) mesotheliomas, and 47 of 98 (48%) carcinomas. In carcinomas, N-cadherin expression was most often seen in ovarian carcinoma but was also found in other carcinomas. Calretinin, an established marker of mesothelial cells, was detected in 52 of 56 (93%) reactive specimens, 11 of 12 (93%) mesotheliomas, and 3 of 98 (3%) carcinomas. Evaluation of staining results led to reclassification of six malignant specimens as benign, whereas 17 cases diagnosed as benign and the two diagnosed as inconclusive were classified as malignant. In conclusion, desmin appears to be a promising marker for the distinction between reactive mesothelium and malignant epithelial cells in terms of both specificity and sensitivity, and its complementary use with calretinin is recommended. Unlike calretinin, it may also prove valuable for the distinction between benign and malignant mesothelial cells. N-cadherin does not have a role in the distinction between mesothelial and epithelial cells. However, it may prove useful in the characterization of carcinomas of unknown origin. As has previously been shown, a significant number of diagnoses that are based on morphologic examination alone are modified after the use of a broad antibody panel.
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PMID:The role of desmin and N-cadherin in effusion cytology: a comparative study using established markers of mesothelial and epithelial cells. 1168 57

Cardiac fibroma and inflammatory myofibroblastic tumor (IMT) of the heart are rare lesions occurring in young patients and having pathologic similarities. We compared the morphologic and immunohistochemical features of seven cardiac fibromas, including one biopsied at birth and removed 4 years later, and two IMTs of the heart diagnosed at Marie Lannelongue Surgical Center (Le Plessis Robinson, France) between 1980 and 1999. Cardiac fibromas occurred in five females and two males and were surgically biopsied (n = 2) or removed (n = 6) between the ages of 8 days to 31 years (mean 7 +/- 12 years). Inflammatory myofibroblastic tumors were removed in two male patients, aged 13 weeks and 1 year, both alive and well 9 months and 5 years after surgery, respectively. Fibromas were ventricular lesions measuring 3 to 10 cm (mean, 5.7 +/- 2.2 cm). They contained entrapped myocytes and wavy elastic fibers. Three cases contained calcifications. Spindle cells were monomorphic. Their nucleus had a thin chromatin without nucleolus. Mitoses and extramedullary hematopoiesis were only observed in fibromas from patients younger than 5 months (n = 5) while prominent collagen fibrosis was present in fibromas from patients older than 4 years (n = 3). Inflammatory myofibroblastic tumors were endocardial lesions measuring 2 and 2.5 cm. They were covered by fibrin. Spindle cells were larger than in fibromas. Their nucleus had obvious nucleoli. They were associated with numerous inflammatory cells in a variable amount of myxoid background. Occasional mitoses and foci of necrosis were present. Spindle cells in both fibromas and IMTs strongly expressed smooth-muscle actin and were negative for desmin, CD34, S-100 protein, and p53. Our study shows that IMT must be considered in the differential diagnosis of cardiac fibroma especially in cases of inflammatory syndrome, location outside the ventricular myocardium, or multinodular lesions. Morphologic analysis permits the correct diagnosis, while immunochemistry shows a myofibroblastic differentiation in both lesions.
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PMID:Fibroma and inflammatory myofibroblastic tumor of the heart. 1174 71

Reports of supernumerary ovaries are rare. We describe two such cases, one with fibroma and the other with endometriosis and cystic change. A large fibroma measuring 17.4 x 12.0 x 7.5 cm in size was found in the supernumerary ovary of the omentum in the first case of a 47-year-old married woman with Meig's syndrome. The second case was associated with endometriosis and cystic change, measuring 11 x 5 x 3 cm in size and located in the upper abdominal cavity. It was attached to the uterus of a 28-year-old pregnant woman who had neither fibroma nor Meig's syndrome. Histologically, corpus albicans and a few primordial germ cells were demonstrated, respectively. A fibroma showing a storiform pattern was found in the first case. The second case had endometriosis and a thin-walled cyst with bleeding and necrosis caused by torsion. Immunohistochemically, desmin, alpha-smooth muscle actin, c-kit, CA125, Na+/K+ATPase, overexpression of p53, myc and ras were all negative in the fibroma cells of the first case, and in the endometriosis and cyst wall of the second case. The fibroma cells were positive for vimentin and estrogen receptor, and the proliferating cell nuclear antigen was sporadically demonstrated in their nuclei. The mutation of the p53 gene at exons 5-8 was not detected by sequence analysis. Using RT-PCR, bax, bcl-2 and p16 were not detected either. Clinically, the two cases presented here did not show abnormal hormonal symptoms. They were diagnosed as abdominal tumors or masses. Based on these considerations, one might assume that supernumerary ovaries are probably more frequent than reported at present.
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PMID:Two cases of supernumerary ovary: one with large fibroma with Meig's syndrome and the other with endometriosis and cystic change. 1179 34

The aim of this study was to describe a child with a right cerebellar hemisphere metastasis from primary clear cell sarcoma of the kidney without evidence of bone metastases, and to investigate the immunohistochemical features of primary and metastatic tumors. A 12-month old boy was admitted our hospital due to an abdominal mass. Abdominal computed tomography revealed a large right renal tumor. Tumor was removed with nephrectomy. Histopathologic examination of tumor revealed clear cell sarcoma of the kidney. The patient received radiotherapy and chemotherapy in postoperative period. He suffered from gait disturbance and confusion 8 months later. A computed tomography scan revealed a tumor that was enhanced with contrast medium at right cerebellar hemisphere concomitant with ventricular enlargement. After ventriculo-peritoneal shunting procedure, tumor was excised totally and histopathologic diagnosis showed metastasis of clear cell sarcoma of the kidney. Immunohistochemically vimentin, actin, desmin, neuron specific enolase, cytokeratin, P 53, Ki-67 and P-170 were performed using formalin fixed, paraffin embedded sections. Both of the tumors were positive for vimentin and negative for desmin, actin, neuron specific enolase, cytokeratin and P 53. Scattered nuclei were stained by Ki-67 in primary and metastatic cerebellar tumor. Both primary and metastatic tumors were negative for p53 and P-170. The treatment consisted of surgery, radiotherapy and chemotherapy. The patient is alive and well without evidence of recurrence 16 months after second surgery. Clear cell sarcoma of the kidney is most commonly associated with bone metastasis. Cerebellar metastasis of clear cell sarcoma of the kidney is very unusual. To the best of our knowledge, this patient is second case in the English literature. With review of the literature, our immunohistochemical findings support the theory that relapse and metastasis of primary clear cell sarcoma of the kidney are not related with increase of aggressiveness.
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PMID:Cerebellar metastasis from clear cell sarcoma of the kidney. A case report with immunohistochemistry. 1191 76

Elastofibroma and nodular fasciitis are two rare, benign soft tissue tumors. Elastofibroma is suggested to develop as a result of abnormal degeneration of elastic fibers after local trauma. Similarly, fibroblastic proliferation, which is triggered by local trauma or nonspecific inflammatory event, is suggested to play an important role in the origin of nodular fasciitis. In this immunohistochemical study, vimentin, smooth muscle actin (SMA), desmin, S-100 protein, p53, and estrogen receptors were applied to paraffin sections of 10 elastofibroma and four nodular fasciitis specimens to learn more about their histogenesis and biological behavior. All cases with nodular fibrosis were strongly SMA and vimentin positive, while only three weakly stained with estrogen receptor antibody. There was no immunreactivity for S-100, desmin, and p53 in nodular fasciitis. However, all elastofibroma cases were stained positively with vimentin. No staining was observed with SMA, S-100, desmin, and p53 in elastofibroma. The staining pattern of nodular fasciitis supported a myofibroblastic origin, whereas the SMA negativity in elastofibroma was correlated with fibroblastic origin.
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PMID:Vimentin, smooth muscle actin, desmin, S-100 protein, p53, and estrogen receptor expression in elastofibroma and nodular fasciitis. 1200 56

The present case report describes a case of ganglioglioma with a distinct sarcomatous component in the left temporal lobe of a 59-year-old Japanese man. Neoplastic neuroglial tissue contained both benign and anaplastic glial components with a MIB-1 labeling index of 0.1% and 12.0%, respectively. Sarcomatous tissue adjacent to the anaplastic glial tissue was dominated by pleomorphic fibroblastic cells with a MIB-1 labeling index of 10.8%. They were immunoreactive for smooth muscle actin, type IV collagen, and alpha 1 antitrypsin, but not for desmin and CD34. Interestingly, some of the sarcomatous cells were double-positive for smooth muscle actin and GFAP. The p53 protein had accumulated in the anaplastic astrocytes and sarcomatous cells, but direct DNA sequencing of PCR products failed to detect any mutation in the p53 gene (from exon 4 to exon 10).
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PMID:Anaplastic ganglioglioma with sarcomatous component: an immunohistochemical study and molecular analysis of p53 tumor suppressor gene. 1203 Apr 14

The tumour suppressor gene p53 is recognised as a central regulator of the cell cycle and apoptosis. Post-natally, p53 mutations are associated with many cancers and mice lacking p53 are prone to spontaneous tumour formation. The present study examines skeletal muscle formation in post-natal mice lacking p53 using two different models of skeletal muscle regeneration. The level of endogenous myogenic cell proliferation in mature skeletal muscle was examined and the time course of muscle regeneration after whole muscle transplantation or crush injury were compared in p53 (-/-) and control C57Bl/6J adult mice, using desmin and proliferating cell nuclear antigen (PCNA) immunohistochemistry and histological analysis. The pattern of inflammation, myoblast proliferation and myotube formation in regenerating p53 (-/-) skeletal muscles appears normal and similar to those in control C57Bl/6J muscle. These data indicate that p53 is not required for the regulation of myoblast proliferation, differentiation and myotube formation in vivo during myogenesis of adult skeletal muscle.
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PMID:The role of p53 in vivo during skeletal muscle post-natal development and regeneration: studies in p53 knockout mice. 1214 46

In the gastrointestinal tract, carcinosarcomas are most frequently seen in the esophagus. Carcinosarcoma in the stomach is a rare tumor. We report a carcinosarcoma of the antrum of stomach. The tumor was polypoid and exophytic in appearance and located in the antrum. Immunohistochemical studies showed positivity for cytokeratin, epithelial membrane antigen and cytoplasmic carcinoembryonic antigen in the epithelial component. Positive staining with vimentin, desmin and focal smooth muscle actin and negative staining with chromogranin were observed in spindle cells. Nuclear positive staining was observed with p53 and Ki-67 in both glandular and spindle atypical cells.
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PMID:Carcinosarcoma of the stomach. 1257 16

Leiomyomatosis peritonealis disseminata (LPD) is a rare clinicopathological entity typically observed in women of reproductive age. We report a case of LPD with malignant change in a man. A 77-year-old man presented with a mass measuring 10 cm in diameter at the terminal ileum and numerous peritoneal small nodules that were revealed by abdominal computed tomography. Right hemicolectomy with lymph node dissection was performed. Macroscopically, a tumor of the terminal ileum consisted of aggregates of small nodular lesions with calcification and necrosis. The wall of the ileum and colon was intact. Microscopically, some of the nodular lesions consisted of neoplastic growths of atypical spindle cells with cellular atypism and abnormal mitoses. A few of these lesions were completely surrounded by smooth muscle bundles. Hemorrhages and necroses were found within the tumor nodules. Immunohistochemically, the tumor cells were positive for vimentin, desmin, muscle actin, alpha-smooth muscle actin, cytokeratin and p53. The remaining nodular lesions, including small peritoneal lesions, were composed of hypocellular hyalinizing nodules. This case was thought to be LPD with malignant change, although the pathogenesis was uncertain because the tumor cells were negative for estrogen and progesterone receptors.
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PMID:Leiomyomatosis peritonealis disseminata with malignant change in a man. 1260


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