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)

Primary synovial chondromatosis (PSC) is a rare, usually monoarticular disorder of synovial joints. PSC is characterised by the formation of osteocartilaginous nodules in the synovial connective tissue. We report the case of a 32-year-old male with PSC of the left hip. At clinical examination abduction of the left hip was limited and rotation was painful. Ultrasound examination of the hip revealed joint effusion and multiple hyperechogenic foci due to distal acoustic shadowing. Plain radiographs showed a slight soft tissue swelling around the femoral neck and multiple round or ovoid calcifications of a uniform size. MRI revealed a large joint effusion with multiple small filling defects. Open total synovectomy was performed after dislocation of the femoral head. The diagnosis of PSC was confirmed by histological examination of the excised material. The majority of cells failed to exhibit any staining for cerb B-2 and ki-67. None of the sections showed more than 5% labelling for DNA-fragmentation proven by terminal deoxytransferase-mediated dUTD nick-end labeling (TUNEL), and all were completely non-reactive for p53 as well. In conclusion, immunohistochemical analysis suggests that in this case PSC originated from metaplasia and not from a proliferative process. After two years, the patient was free of symptoms and radiological control did not show evidence of recurrence or femoral head necrosis. Physical findings, diagnosis, histological features and management of PSC are discussed.
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PMID:Synovial chondromatosis of the hip: a case report and clinicopathologic study. 1516 24

Malignant gliomas arise from two distinct pathways, as de novo lesions or from secondary transformation from low-grade lesions. Herein, we describe the cases of two patients to illustrate the proposition that de novo malignant gliomas can originate as non-enhancing tumors and rapidly progress to a pattern of ring enhancement characteristic of a glioblastoma. Both patients presented with new-onset seizures (simple partial and generalized). Their neurological examinations were unremarkable. Initial MRI evaluations revealed a right precentral gyrus and right medial temporal lobe lesions in each case, respectively. These lesions demonstrated increased T2 signal changes without contrast enhancement. The biopsy of the right frontal lesion in the first patient was consistent with an anaplastic astrocytoma; the second patient was followed expectantly. Repeat MRI for both patients within 17 weeks disclosed ring-enhancing lesions, consistent with an unusually rapid evolution to glioblastoma multiforme (GBM). Subsequent resection of the right medial temporal lesion in the second patient revealed a GBM. Neither tumor displayed abnormal overexpression of P53 by immunohistochemistry. Early MRI of de novo glioblastomas may demonstrate a non-enhancing tumor suggestive of a low-grade lesion. These tumors can rapidly evolve into ring-enhancing lesions more consistent with the traditional imaging findings.
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PMID:Non-enhancing de novo glioblastoma: report of two cases. 1544 98

Cholangiocarcinomas are malignant tumors of the intra- or extrahepatic biliary tract. An increasing incidence of cholangiocarcinomas has been documented. This increase might be only apparent, due to the progress in investigation and changes in tumor codification. The major clinical sign of cholangiocarcinomas is obstructive jaundice, which is persistent and progressive. Biological tumor markers are nonspecific: an increased serum level of carcinoembryonic antigen is relevant when associated with an increased level of CA 19-9 or CA-125. K-ras mutation and aberrant expression of p53 are present in one third of intrahepatic cholangiocarcinomas. The firstline imaging investigation is ultrasonography, which always detects dilatation of the bile ducts, but more rarely the tumor itself. Classically, endoscopic retrograde cholangiopancreatography (ERCP), the "gold standard" investigation in case of obstructive jaundice, has been performed following ultrasonography. The actual recommendations, based on grade B and C evidences, are to start investigations with ultrasonography and to continue with noninvasive methods: MRI/MRCP or spiral CT, whenever a malignant obstructive jaundice is suspected. Invasive cholangiography (ERCP, PTC) should be reserved for tissue diagnosis or therapeutic decompression when cholangitis is present, or for stent insertion in unresectable tumors. If MRI, CT or cholangiography do not exclude resectability, hepatic arteriography and portal vein evaluation should be performed preoperatively. All patients who do not have unequivocal cholangiographic and angiographic signs of unresectability should undergo surgery, in order to benefit of a possible tumor resection. The radical surgical procedures relieve the obstruction and jaundice by resecting the tumor. The palliative (surgical or endoscopic) procedures cure the jaundice, but do not remove the tumor. Prognosis of cholangiocarcinomas is dismal, although five-year survival rates for these tumors have improved due progress in surgery and adjuvant oncological therapy.
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PMID:Cholangiocarcinoma: risk factors, diagnosis and management. 1552 94

Pituitary apoplexy is an acute clinical event usually caused by hemorrhage or infarction in a pituitary adenoma. We report the unusual case of hemorrhagic pituitary apoplexy in an 18 year-old male with previously undiagnosed type 2 diabetes mellitus who presented with unexplained hyperglycemia (glucose 49.2 mmol/l [887 mg/dl]) and obtundation and in whom an initial diagnosis of non-ketotic hyperglycemic coma (NKHC) was made. MRI revealed a heterogeneous mass arising from an expanded sella turcica into the suprasellar cistern. Despite well-controlled glucose levels on continuous insulin infusion, dexamethasone, and initiation of bromoergocriptine (parlodel) therapy, the patient's vision and pupillary responses deteriorated acutely. Following emergency transphenoidal surgery, the patient's vision and mental status improved. Data confirmed preoperative panhypopituitarism; serum prolactin was 396 ng/ml (microg/l). Immunostudies demonstrated tumoral labeling for prolactin, but not for ACTH, GH, TSH, LH, FSH, or P53.
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PMID:Hemorrhagic pituitary apoplexy in an 18 year-old male presenting as non-ketotic hyperglycemic coma (NKHC). 1604 31

Breast and ovarian cancers are the second and fifth leading causes of cancer death, respectively, among women in the United States. Individuals with breast cancer have a 20--30% chance of having at least one relative with the disease. However, only 5--10% of the cases are a direct result of germline mutations in highly penetrable genes, such as BRCA1 and BRCA2 (BRCA1/2) as well as genes TP53 and PTEN. Since 1996, genetic testing for these mutations has been clinically available. A strategy for the management of women at increased familial risk of breast and ovarian cancers is described, which includes genetic assessment, chemoprevention, radiologic screening, and clinical and self-examination. Genetic testing should occur within a cancer genetic clinic after genetic counseling. A blood sample allows determination of the presence of the BRCA1 and BRCA2 genes, the TP53 gene, the PTEN gene, and the ATM gene. Tumor examination has identified a growth factor receptor gene, human epidermal growth factor receptor (HER-2). With regard to diet and lifestyle, women at increased risk of breast cancer could be advised to reduce dietary fat, avoid obesity, decrease alcohol consumption, and take regular exercise. Although chemoprotection is a valuable consideration, it is important to emphasize that the use of Tamoxifen in BRCA1 and BRCA2 mutation carriers is not established, nor is the optimum duration of benefit. An overview of the main outcomes of the current published studies confirms a 38% decrease in breast cancer incidence with Tamoxifen but recommends its use be restricted to women at high risk of breast cancer and low risk for potential side effects. The role of bilateral risk-reducing mastectomy or prophylactic mastectomy has been controversial for several reasons, including the psychosocial significance of the breast in Western cultures, the wide acceptance of breast conservation in surgery for early breast cancer, and the previous lack of data on its efficacy. The surgical procedure should aim to remove substantially all at-risk breast tissue. However, there is a balance between reduction of cancer risk and cosmetic outcome. Bilateral prophylactic oophorectomy can significantly decrease ovarian cancer risk in women who carry BCRA1 mutations. Oophorectomy lowers the risk of breast cancer, even in women who have previously used hormone replacement therapy. There are no published randomized controlled trials examining the effectiveness of mammographic screening in women under 50 years of age with a family history of breast cancer. However, the published studies do suggest that mammographic screening of a high-risk group of women under 50 years of age may detect cancer at a rate equivalent to that seen in women 10 years older with normal risk. Other initial studies also support MRI as having a greater sensitivity than mammography in high-risk women. Breast clinical and self-examination is often advocated, but its effectiveness is unproved, and only one randomized study has been undertaken in women at risk. On the basis of this study as well as one nonrandomized study, it can be concluded that clinical examination as well as mammography are essential in detecting breast cancer. under 50 years of age with a family history of breast cancer. However, the published studies do suggest that mammographic screening of a high-risk group of women under 50 years of age may detect cancer at a rate equivalent to that seen in women 10 years older with normal risk. Other initial studies also support MRI as having a greater sensitivity than mammography in high-risk women. Breast clinical and self-examination is often advocated, but its effectiveness is unproved, and only one randomized study has been undertaken in women at risk. On the basis of this study as well as one nonrandomized study, it can be concluded that clinical examination as well as mammography are essential in detecting breast cancer.
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PMID:Breast cancer and ovarian cancer genetics. 1621 1

Large cell/anaplastic (LC/A) medulloblastoma (MB) is a recently recognized variant of medulloblastoma known to be associated with an advanced stage and a poor prognosis. Although Eberhart et al. suggested histopathologic grading of medulloblastoma in 2002, no consensus has been reached in terms of determining the criteria of an LC/A variant, and its biological behavior continues to be the subject of debate. We retrospectively analyzed 74 cases (range 0.25-15 years) of MB clinicopathologically using the criteria established by Eberhart et al. The LC/A variant was identified in 16 cases (22% of MB cases), five of which showed a poor outcome. Most LC/A variant cases revealed synaptophysin immunoexpression (75%), but no epidermal growth factor receptor (EGFR) expression. Expression of synaptophysin, NeuN, GFAP, p53, c-erbB2, and EGFR did not differ in LC/A and non-LC/A variants. Seven of the 74 cases of medulloblastoma showed erbB2 amplification by FISH, four of which were LC/A variants. N-myc amplification was observed in only one LC/A variant, but no c-myc amplification was found. In patients younger than 10 years, the LC/A variant showed a significantly poorer outcome than the non-LC/A variant (P = 0.02), while no difference was found in older patients. Multivariate analysis revealed only metastasis on MRI and p53 expression, but not anaplasia as unfavorable prognostic factors. Our study suggests that prognostic implications of anaplasia in medulloblastoma are uncertain, and that the reproducibility of the histopathologic criteria of the LC/A variant should be reassessed before they can be applied in practical use.
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PMID:Medulloblastoma: histopathologic and molecular markers of anaplasia and biologic behavior. 1669 20

Contrast enhanced magnetic resonance imaging (CE MRI) is the most sensitive tool for screening women who are at high familial risk of breast cancer. Our aim in this study was to assess the cost-effectiveness of X-ray mammography (XRM), CE MRI or both strategies combined. In total, 649 women were enrolled in the MARIBS study and screened with both CE MRI and mammography resulting in 1881 screens and 1-7 individual annual screening events. Women aged 35-49 years at high risk of breast cancer, either because they have a strong family history of breast cancer or are tested carriers of a BRCA1, BRCA2 or TP53 mutation or are at a 50% risk of having inherited such a mutation, were recruited from 22 centres and offered annual MRI and XRM for between 2 and 7 years. Information on the number and type of further investigations was collected and specifically calculated unit costs were used to calculate the incremental cost per cancer detected. The numbers of cancer detected was 13 for mammography, 27 for CE MRI and 33 for mammography and CE MRI combined. In the subgroup of BRCA1 (BRCA2) mutation carriers or of women having a first degree relative with a mutation in BRCA1 (BRCA2) corresponding numbers were 3 (6), 12 (7) and 12 (11), respectively. For all women, the incremental cost per cancer detected with CE MRI and mammography combined was pound28 284 compared to mammography. When only BRCA1 or the BRCA2 groups were considered, this cost would be reduced to pound11 731 (CE MRI vs mammography) and pound15 302 (CE MRI and mammography vs mammography). Results were most sensitive to the unit cost estimate for a CE MRI screening test. Contrast-enhanced MRI might be a cost-effective screening modality for women at high risk, particularly for the BRCA1 and BRCA2 subgroups. Further work is needed to assess the impact of screening on mortality and health-related quality of life.
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PMID:Cost-effectiveness of screening with contrast enhanced magnetic resonance imaging vs X-ray mammography of women at a high familial risk of breast cancer. 1701 84

Adrenocortical cancer (ACC) is a rare tumor with a poor prognosis. By contrast, benign adrenocortical tumors are frequent, underlying the importance of a correct diagnosis of malignancy of such tumors. ACC can be diagnosed by the investigation of endocrine signs of steroid excess, symptoms due to tumor growth or an adrenal incidentaloma. Hormonal investigations demonstrate in most ACC steroid oversecretion, the dominant characteristics being a co-secretion of cortisol and androgens. Imaging by CT-scan or MRI shows a large heterogeneous tumor with a low fat content. Careful pathological investigation with the assessment of the Weiss score is important for the diagnosis of malignancy. Molecular markers can also be helpful and in the future might be important for prognosis. Tumors localized to the adrenal gland (McFarlane stages 1 and 2) have a better outcome than invasive and metastatic tumors (stages 3 and 4). Tumor removal by a specialized team is crucial for treatment and should always aim at complete removal. In patients with metastatic or progressive disease, medical treatment is started with mitotane that requires a close monitoring of its blood level. Surgery is indicated when possible for local recurrence but also in some cases of metastasis. Local treatment (radiofrequency, chemoembolization, and radiation therapy) can have some indications for metastatic disease. In patients with disease progression cytotoxic chemotherapy can be used. Despite the best care, the overall prognosis of ACC is poor with a 5-year survival rate below 30% in most series. Therefore, progress in the understanding of the pathophysiology of ACC is important. Despite the rarity of ACC, significant advances have been made in the understanding of its pathogenesis the last decade. These progresses came mainly from the study of the genetics of ACC, both at the germline level in rare familial diseases, and at the somatic level by the study of molecular alterations in sporadic tumors. These advances underline the importance of genetic alterations in ACC development and point-out to various chromosomal regions (2, 11p15, 11q, 17p13) and genes (IGF-II, p53, beta-catenin, ACTH receptor). This review will summarize these advances as well as the current clinical management of ACC.
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PMID:Adrenocortical cancer: pathophysiology and clinical management. 1739 72

Glioblastoma multiforme (GBM) is a heterogeneous group of tumors, and neuroimaging characteristics have not been well-defined in molecular subgroups. Eighty-five patients with GBM were analyzed regarding imaging characteristics and correlation to p53 expression. The p53 positivity was graded according to percentage of positive cells (Grade 0, for < 10%; Grade 1, for <25%; Grade 2, for 26-50%; Grade 3, for >50% labeled cells). Imaging characteristics evaluated in the preoperative MRI were location and number of lesions, dimensions of enhancing lesion and of surrounding edema, mass effect, tumor borders, enhancement pattern after intravenous contrast administration, and tumor necrosis. Eighteen tumors had p53 expression >50% in immunohistochemical staining. Preoperative MRI of patients harboring those tumors with high p53 positivity revealed typical lesions with ring enhancement pattern and well-defined borders in T1-weighted images with contrast, and they were significantly different from other groups of p53 expression. There was no difference in terms of location and number of the lesions, dimensions of enhancing lesion and surrounding edema, mass effect, and the tumor necrosis between four different groups of p53 expression. A special subgroup of GBMs with p53 overexpression has ring enhancement pattern and well-defined border on MRI that may be influential in preoperative planning and postoperative management of adjunct therapy.
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PMID:Neuroimaging characteristics in subgroup of GBMs with p53 overexpression. 1744 39

Cerebral involvement is an uncommon complication of multiple myeloma. We report on a 64-year-old man hospitalized for a partial seizure. MRI showed two intracerebral lesions, which proved to be plasmacytomas. After complete staging, we retained the diagnosis of immunoglobulin G lambda-type multiple myeloma with CNS involvement. Cytogenetic analysis of plasma cells detected a deletion in the p53 gene at 17p13.1. Despite cranial radiotherapy and systemic chemotherapy, the patient's disease progressed rapidly and he died five months after diagnosis. What makes this case unusual is that overt multiple myeloma had been absent before cerebral involvement was discovered. It confirms the extremely poor prognosis of patients with CNS myeloma even in the presence of aggressive treatment. Cytogenetic abnormalities could be a marker of chromosomal and genetic instability, conferring to multiple myeloma a more aggressive profile.
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PMID:Case study of intracerebral plasmacytoma as an initial presentation of multiple myeloma. 1752 37


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