Cases reported "Carcinoma, Renal Cell"

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1/13. The incidental diagnosis.

    incidental findings transcend medical practice. Two cases are discussed in which significant conditions were discovered during clinical examination for an unrelated disorder. The first case presents a disease reported for the first time in a male. Recent literature has alluded to missed diagnoses found only at autopsies. With cost constraint as a national theme, the appropriate use of technology presents a challenge to the physician. The cases discussed raise questions about the process of diagnosis. Both situations bring to light the limitations of clinical investigation early in the pathologic process.
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2/13. Gamma surgery for intracranial metastases from renal cell carcinoma.

    OBJECT: The goal of this study was to evaluate the effectiveness and limitations of gamma surgery (GS) in the treatment of renal cell carcinoma that has metastasized to the brain. methods: The authors performed a retrospective analysis of a consecutive series of 21 patients with 37 metastatic brain deposits from renal cell carcinoma who were treated with GS at the University of virginia from 1990 to 1999. Clinical data were available in all patients. No patient died of progression of intracranial disease or deteriorated neurologically following GS. Eight patients clinically improved. Follow-up imaging studies were available for 23 tumors in 12 patients. Nine patients did not undergo follow-up imaging. One patient lived 17 months and succumbed to systemic disease: no brain imaging was performed in this case. Another patient refused further imaging and lived 7 months. Seven patients lived up to 4 months after the procedure; however, their physicians did not require these patients to undergo follow-up imaging examinations because of their general conditions-all had systemic progression of disease. Of the 23 tumors that were observed posttreatment, one remained unchanged in volume, 16 decreased in volume, and six disappeared. No tumor progressed at any time, and there were no radiation-induced changes on follow-up imaging an average of 21 months after GS (range 3-63 months). CONCLUSIONS: Gamma surgery provides an alternative to surgical resection of metastatic brain deposits from renal cell carcinoma. Neurological side effects were seen in only one case; freedom from progression of disease was achieved in all cases.
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3/13. Malignant lymphoma accompanied by renal cell carcinoma - a not so rare coincidence?

    We report a case of a patient who presented with a left sided inguinal swelling. Ultrasound examination clearly revealed a bilateral inguinal lymphoma. In addition, a renal cell carcinoma was diagnosed through ultrasound. The differences in texture between lymph nodes and renal tumour as well as the even concentric swelling of the lymph node sinus permitted a clear cut differentiation between the two entities. CT could not provide this clear distinction. Despite some controversy several case reports as well as a few retrospective studies showed an increased coincidence of renal cell carcinoma and malignant lymphoma. However, a pathophysiological connection has not yet been discovered. This report presents another case of synchronous appearance of renal cell carcinoma and malignant lymphoma and demonstrate the relevance of ultrasound in the discrimination between the two clinical entities. It is essential for physicians performing either sonography and/or CT to be aware of this coincidence to avoid misdiagnosis of lymphadenopathy in patients with renal cell carcinoma as metastasis and, vice versa, renal tumours in lymphoma patients as renal manifestation of the lymphoma.
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4/13. Linking human genetics with molecular medicine: will hereditary renal cancer play a major role?

    An inherited or familial predisposition to form kidney tumors represents less than 4% of all renal malignancies. However, hereditary renal cancer (HRC) syndromes offer important opportunities for gene discovery and function. Basic and clinical HRC investigation often provides unique insight into regulation of cell growth, cell proliferation, tumor invasion and metastasis. The genetics, biochemistry and physiology of renal tumorigenesis has been directly impacted and significantly expanded by HRC research over the last ten years. Mutations have been identified in several genes tightly linked to increased risk for development of renal cancer. Inheritance of these mutated genes causes specific hereditary syndromes often associated with clinically significant nonrenal manifestations. Molecular and biochemical alterations of most HRC gene products are also detected in sporadic renal cancer emphasizing the importance of HRC gene function in nonhereditary carcinogenesis. Despite these important molecular findings, the clinical contribution of HRC research has generally been limited to genetic screening and prognostic assessment. HRC patients and their physicians continue to face difficult decisions regarding cancer control and quality of life despite advances in minimally invasive surgical and radiological techniques. The ultimate challenge for clinicians and scientists will be translation of molecular and genetic research into clinical tools that impact diagnosis, treatment and prevention. This bench to bedside report describes the diagnosis, genetics, pathophysiology and current cancer treatment options available for HRC syndromes.
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5/13. Juvenile renal cell carcinoma as first manifestation of von hippel-lindau disease.

    Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome characterized by germline mutations in the VHL tumor suppressor gene located at chromosome 3p25-26 and pleomorphic clinical picture. The major clinical manifestations include retinal angiomas, central nervous system hemangioblastomas, pheopleochromocytoma, pancreatic cysts, epididymal cystoadenomas and renal lesions. Recently, we observed a 58-year-old male patient with macrohematuria and a history of nephrectomy due to renal cell carcinoma (RCC). The patient showed retinal angiomatosis, cerebellar hemangioblastomas, multiple pancreatic cysts, right kidney with polycystic features plus two RCC. The patient's offspring, two females and one male, showed VHL lesions, such as retinal angiomatosis, cerebellar hemangioblastomas and polycystic kidney disease (PKD). The affected family members were screened for mutations in the VHL gene. Data suggested the presence of a deletion encompassing exon 1 of the VHL gene. early diagnosis of VHL disease in patients and their relatives is important for clinical and geneticreasons. VHL disease patients have an increased incidence of malignant carcinomas and the syndrome can mimic the presentation of other cystic kidney diseases. early diagnosis and molecular genetic testing of family members is essential to improve the clinical management of patients and to allow an accurate risk assessment in asymptomatic individuals. In conclusion, nephrologists and urologists must carefully evaluate patients with PKD and RCC to confirm or exclude VHL disease, and physicians must play a crucial role in the clinical process of therapeutical decisions and choices for VHL patients.
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6/13. diplopia - an unusual primary manifestation of metastatic renal cell carcinoma.

    It is relatively unusual that initial symptoms of renal cell cancer begin with the metastatic involvement of other sites. Intracranial metastases especially in the paranasal sinuses may be unusual not only to surgeons but also to physicians. In this report, we present a case where a metastasis was first manifest as a sphenoid sinus secondary with ocular and visual disturbances prior to the demonstration of the primary tumor site. It turned out to be a case of diplopia masquerading as a metastatic renal cell cancer.
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7/13. Single case of renal cell carcinoma and endocrine pancreatic head cancer occurring with von hippel-lindau disease.

    Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic disease in which various neoplastic lesions occur in multiple organs. Reported here is a case of VHL disease with concurrent renal cell carcinoma and endocrine pancreatic cancer. The patient was a 43-year old woman. On this occasion, the patient had sought treatment from her local physician, complaining chiefly of yellowing of the skin and bulbar conjunctiva. Abdominal ultrasound and computed tomography scans revealed a mass in the right kidney and a mass in the pancreatic head. Peripheral blood genetic analysis revealed an Arg/stop heteroconjugative mutation in codon 113 in exon 1 of the VHL gene on the short arm of chromosome 3 (p25-26). After various tests were performed, the patient was diagnosed with right renal cell carcinoma, malignant tumor of the pancreatic head, and multiple pancreatic cysts accompanying von hippel-lindau disease. Right nephrectomy and pancreatoduodenectomy were performed. Based on the histopathological results, the patient was diagnosed with right renal cell carcinoma and highly differentiated endocrine pancreatic cancer. Immunohistologically, a large number of atypical cells were found to be positive for both anti-chromogranin and anti-synaptophysin antibodies in the endocrine tumor. Immunostaining for each type of gut hormone was also performed, but all results were negative. Based on the above findings, nonfunctioning, highly differentiating endocrine cancer was diagnosed. This is the first confirmed case of renal cell carcinoma and endocrine pancreatic cancer occurring concurrently with VHL. This is an important case, so it is presented here along with a short discussion of the literature.
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8/13. Targeted therapy for cytokine-refractory metastatic renal cell carcinoma, and treatment in the community.

    This report of a case of cytokine-refractory metastatic, clear-cell renal cell carcinoma (RCC) presents some current issues related to use of targeted therapy in the community. Due to the different mechanisms of cytostatic vs. cytotoxic agents, traditional response assessments may not always apply in deciding when to either continue or stop treatment. While community physicians may increasingly focus more on duration of response, symptom relief, and how well patients tolerate treatment, there is a clear need for validated surrogate markers of biologic activity and response, as well as randomized trials that directly compare some of the targeted therapies being applied in advanced RCC.
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9/13. Renal cell carcinoma associated with sarcoidlike tissue reaction.

    A 60-year-old man was referred to our institution with the diagnosis of sarcoidosis. Because of several months' complaint of right flank pain and weight loss, the patient had consulted his local physician. After an extensive workup revealed only cholelithiasis, he underwent a cholecystectomy for presumed chronic cholecystitis. At the time of operation, biopsy of several liver nodules and peripancreatic nodes revealed noncaseating granulomas, consistent with sarcoidosis. On initial examination at our institution, the patient had microhematuria. A chest roentgenogram demonstrated multiple pulmonary nodules, an abdominal computed tomographic scan showed an indeterminate left renal mass, and magnetic resonance imaging of the spine revealed abnormal signals in the body of T-12. Open-lung biopsy showed an adenocarcinoma with clear cell features, likely of renal origin. The patient was diagnosed as having a metastatic renal carcinoma associated with a sarcoidlike tissue reaction. Although noncaseating granulomas have been reported in association with other malignant lesions, to our knowledge this is the first report of such an association with renal carcinoma. In addition, this case illustrates several points. First, sarcoidosis is a multisystem disorder with protean extrapulmonary manifestations. In fact, all our patient's findings could have been attributed to sarcoidosis. Second, noncaseating granulomas occur with many types of processes, including infections, chemical exposures, and, as in this case, neoplasms. Thus, noncaseating granulomas are not pathognomonic for sarcoidosis. Third, sarcoidosis is a clinical diagnosis that cannot be based on histologic findings alone.
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10/13. Lymph node examination by fine needle aspiration in patients with known or suspected malignancy.

    In a series of more than 2,500 fine needle aspirates from multiple body sites, over 200 were clinically identified as lymph nodes from patients with known or suspected malignancy. The material was obtained using the easily manipulated Aspir-Gun with a 21-gauge or 22-gauge needle and syringe. Of the 200 lymph node specimens, 100 (50%) were cytologically reported as positive for malignancy. Ninety cases had surgical pathology specimens available for comparison with the fine needle aspiration (FNA) specimens. For the 88 of these cases with satisfactory FNA specimens, evaluation of the FNA results showed a predictive value of a positive result of 96.8%. These results compare favorably with those of surgical biopsy. The malignancies present in the lymph nodes included numerous adenocarcinomas from the breast, melanoma and pulmonary small-cell carcinoma. Six cases are briefly presented in which the FNA diagnosis was more problematic. While histologic examination of tissues or organs remains the desirable benchmark of comparison, the appropriate utilization of FNA cytology to guide therapy, particularly in a patient with previously diagnosed malignancy, may obviate the need for an open biopsy. The technique is convenient for patient and physician, useful for outpatients, relatively painless and provides good correlation between cytologic morphology and histopathology.
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