Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of autosomal dominant polycystic kidney disease associated with widely metastatic renal cell carcinoma is reported. The patient had presented with pneumothorax, weight loss, leukocytosis, lytic bone lesions, and hypercalcemia. Despite intensive diagnostic search for a neoplasm, no firm evidence of malignancy was found. However, at the autopsy, widely metastatic, papillary renal cell carcinoma was found originating in the left kidney. Many metastases showed central necrosis mimicking small cysts.
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PMID:Renal cell carcinoma in the presence of adult polycystic kidney disease. 828 67

A 64 year-old male presented with a mass of the left kidney, 9 cm across. A radical nephrectomy was performed and the pathological examination of the surgical specimen revealed a large papillary renal cell carcinoma (RCC). Five weeks after surgery, the patient died because of progressive cardiac failure. At autopsy, a whitish-gray subendocardial mass, measuring 6 cm in its main diameter, was discovered in the left ventricle. Histologically, the tumour, consisted of interlacing bundles of spindle cells, showing large vesicular nuclei, with prominent nucleoli. Rare gland-like structures lined by neoplastic cells were occasionally found. Neoplastic cells were focally immunoreactive to anti-cytokeratin and anti-epithelial membrane antigen antisera. The diagnosis was that of cardiac involvement by RCC with sarcomatoid features. Cardiac metastases by RCC are rare and their incidence ranges from 1.3% to 4.2%. In the present case, the sarcomatoid appearance of the cardiac lesion raises the problem of the differential diagnosis with primary cardiac sarcoma. The clinico-pathological features of this case are discussed and the literature on this topic is reviewed.
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PMID:Solitary left ventricle metastasis by renal cell carcinoma with sarcomatoid features. 869 10

Renal cell carcinomas in children and young adults are rare, and the pathologic features of these tumors have not been well described. We reviewed 24 renal cell carcinomas in children and young adults ages 6 to 29 years, 14 of whom were younger than 18 years of age. Fourteen were female. In 19 (79%) of 24 cases, the tumor met histologic criteria for papillary renal cell carcinoma, with at least 50% papillary architecture. Four of the remaining five cases were typical clear cell tumors in patients known to have von Hippel Lindau syndrome, and one case was of chromophobe type. In the papillary tumors, calcifications, high nuclear grade, extracapsular extension (American Joint Commission on Cancer stage T3), and lymph node metastases were common. Among these papillary tumors, four distinct histologic patterns could be identified. Collecting duct-like tumors (two cases) involved the large collecting ducts, were multifocal and predominantly papillary, and had focal tubular and solid areas. These tumors were reactive for epithelial membrane antigen (EMA) and keratins, including CK7, but negative for Ulex europeaus and high molecular weight keratin 34BE12. Voluminous cell tumors (four cases) were composed of cells with extremely voluminous clear cytoplasm and, although predominantly papillary, had areas that also resembled clear cell tumors. These tumors were reactive for keratins AE1/AE3 but were otherwise negative for all other keratins, EMA, and U. europeaus. One of these tumors showed an X;7 translocation. Adult type tumors (12 cases) resembled papillary tumors of adults. These tumors were reactive for EMA and keratins, including CK7, and all but one were negative for U. europeaus and keratin 34BE12. This last case had trisomies of chromosomes 7, 16, 17, and 20. The final neuroendocrinelike case was multifocal, organoid, and composed of nests of small cells in a neuroendocrinelike pattern. Three of 13 patients were alive with disease at last follow-up, and three additional patients died of disease, all within 2 years. Progression was highly associated with lymph node involvement at the time of resection. We conclude that the clinicopathologic features of renal cell carcinomas in children and young adults differ from those arising in older adults. These tumors are characteristically high-grade, high-stage, papillary tumors with numerous calcifications, and several subtypes can be identified based on histologic, immunohistochemical, and cytogenetic features. Some subtypes appear to be unique to this age group.
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PMID:Renal cell carcinomas in children and young adults: increased incidence of papillary architecture and unique subtypes. 1040 2

Germline mutations of c-met oncogene at 7q31 have been detected in patients with hereditary papillary renal cell carcinoma. In addition, c-met mutations were shown to play a role in 13% of patients with papillary renal cell carcinoma and no family history of renal tumors. The histopathology of papillary renal cell carcinoma with c-met mutations has not been previously described. We analyzed the histopathology of 103 bilateral archival papillary renal cell carcinomas and 4 metastases in 29 patients from 6 hereditary papillary renal cell carcinoma families with germline c-met mutations and 6 papillary renal cell carcinomas with c-met mutations from 5 patients with no family history of renal tumors. Twenty-five sporadic renal tumors with prominent papillary architecture and without somatic c-met mutations were evaluated for comparison. All papillary renal cell carcinomas with c-met mutations were 75 to 100% papillary/tubulopapillary in architecture and showed chromophil basophilic, papillary renal cell carcinoma type 1 histology. Fuhrman nuclear grade 1-2 was seen in tumors from 23 patients, and nuclear grade 3 was observed focally in 8 patients. Seventeen patients had multiple papillary adenomas and microscopic papillary lesions in the surrounding renal parenchyma. Clear cells with intracytoplasmic lipid and glycogen were focally present in tumors of 94% papillary renal cell carcinoma patients. Clear cells of papillary renal cell carcinoma had small basophilic nuclei, and clear cell areas lacked a fine vascular network characteristic of conventional (clear) cell renal cell carcinoma. We conclude that papillary renal cell carcinoma patients with c-met mutations develop multiple, bilateral, papillary macroscopic and microscopic renal lesions. Renal tumors with c-met genotype show a distinctive papillary renal cell carcinoma type 1 phenotype and are genetically and histologically different from renal tumors seen in other hereditary renal syndromes and most sporadic renal tumors with papillary architecture. Although all hereditary and sporadic papillary renal cell carcinomas with c-met mutations share papillary renal cell carcinoma type 1 histology, not all type 1 sporadic papillary renal cell carcinomas harbor c-met mutations.
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PMID:Hereditary and sporadic papillary renal carcinomas with c-met mutations share a distinct morphological phenotype. 1043 44

Renal cell carcinoma, in a high percentage of patients, metastasizes early, sometimes mimicking other lesions. We present a case of an asymptomatic papillary renal cell carcinoma that presented neck metastases as the initial manifestation. The laterocervical and supraclavicular masses were considered consistent with nodal metastases from a thyroid nodule. A hemithyroidectomy was performed before the renal tumor was diagnosed. Then the patient underwent a left-side radical nefrectomy. We discuss the unpredictability of the clinical course of renal cell carcinoma.
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PMID:Papillary renal cell carcinoma presenting as nodal metastases to the neck. 1074 90

We report a man in whom a 15 cm. renal tumor was excised at the age of 49. The pathological examination showed a clear cell carcinoma. Five years later, he presented with headache, vomiting and unilateral palpebral ptosis. Imaging studies showed a sellar tumor with pituitary apoplexy. The tumor was excised and the pathological study disclosed a clear cell tumor, positive for vimentin, cytokeratins AE1 and AE3 and immunohistochemically negative for LH, TSH, ACTH and GH. Considering the similar histopathological features, it was considered as a metastasis of the renal tumor. The patient was supplemented with thyroid, adrenal and gonadal hormones. Seven years later, he presented a new tumor in the remaining kidney, that corresponded to a cystic papillary renal cell carcinoma. Afterwards, he presented a transitional urinary bladder tumor. Mortality associated to renal cell tumors is 90% at 5 years, and pituitary metastases are extraordinarily uncommon.
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PMID:[Apoplexy in pituitary metastasis of renal cell carcinoma. Clinical case followed for 7 years]. 1134 89

Whereas papillary renal cell carcinoma is now established as a subtype of renal cell neoplasia, division of these tumors into 2 distinctive morphotypes has been proposed. Type 1 tumors have cells with scanty pale cytoplasm arranged in a single layer on the basement membrane of papillary cores. In these tumors, psammoma bodies and foamy macrophages are frequently seen, and the tumors frequently express cytokeratin 7. Type 2 tumor cells have pseudostratified nuclei and usually have voluminous eosinophilic cytoplasm. Recent studies have supported this subclassification of papillary renal cell carcinoma by demonstrating differing genotypes for type 1 and 2 tumors. To further study the subclassification of papillary renal carcinoma, we compared clinical features, nuclear grade, stage, tumor growth kinetics, and survival in a series of 50 type 1 and 16 type 2 papillary renal cell carcinomas. Comparison of patient age at presentation, sex, and primary tumor size shows no significant difference between the 2 tumor types. Type 1 tumors were of significantly lower Fuhrman grade (P =.0001) and higher Robson stage (P =.009) than type 2 tumors. There was no significant difference when tumors were staged according to the TNM classification. Assessment of tumor growth kinetics showed significantly different mean silver-staining nucleolar organizer region (AgNOR) scores and Ki-67 indices (AgNOR type 1, 3.83, type 2, 7.24, P =.0001; Ki-67 type 1, 3.17%, type 2, 6.01%, P =.0002). Multivariate analysis showed tumor type (P =.03), presence of metastases (P =.04), AgNOR score (P =.001), and Ki-67 index (P =.03) to be independently associated with survival. These results provide evidence of the clinical utility of dividing papillary renal cell carcinomas into 2 types according to histologic characteristics.
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PMID:Morphologic typing of papillary renal cell carcinoma: comparison of growth kinetics and patient survival in 66 cases. 1143 13

Several gene mutations responsible for human cancer initiation have been discovered, whereas only a few have been identified in association with the progression to metastasis. In this study, we screened a large panel of human sporadic cancers, metastases, and tumor cell lines for mutations in the tyrosine kinase domain of the MET receptor, crucially involved in invasive cell growth and motility during embryogenesis. MET activating mutations have been described previously in hereditary papillary renal cell carcinoma and in a few sporadic tumors. Summarizing results of this and our previous studies, we did not detect mutations in the MET kinase domain from 153 sporadic human cancers and 25 cancer cell lines, whereas we found somatic MET mutations in 10 of 46 lymph nodal and 2 of 14 pulmonary metastases. We identified four MET mutations in metastases. Two were known as MET germ-line mutations (H1112R and Y1248C), which predispose to hereditary renal cell carcinoma. One of the two novel mutations (N1118Y) changed an asparagine in the region of the glycine-rich ATP binding site, which is highly conserved in all of the kinases. The other (Y1253D) changed a critical tyrosine, known to regulate MET kinase activity, to a negatively charged residue. The MET receptors carrying either the N1118Y or the Y1253D mutation were constitutively active and conferred a motile-invasive phenotype on transduced carcinoma cells. The latter phenotype was additionally stimulated by the MET receptor ligand scatter factor/hepatocyte growth factor. These data suggest that MET might be one of the long sought oncogenes controlling progression of primary cancers to metastasis.
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PMID:Novel somatic mutations of the MET oncogene in human carcinoma metastases activating cell motility and invasion. 1246 Sep 23

The ossifying fibromyxoid tumor of soft parts (OFMT) is an uncommon soft tissue neoplasm of uncertain lineage. Approximately 100 cases of OFMT have been reported. Although the majority behave in a benign fashion, very rare tumors with histologic and clinical evidence of malignancy have been reported. Criteria for malignancy in OFMT have not as yet been defined. Seventy cases of OFMT were retrieved from our consultation archives and studied with respect to patient age and sex, tumor site and size, growth pattern, percentage of typical OFMT, cellularity and nuclear grade, mitotic figures (MF)/50 high power fields (HPF), atypical mitoses, necrosis, vascular invasion, and the presence of bone. Immunohistochemistry for pancytokeratin, S-100 protein, smooth muscle actin, desmin, and collagen II was performed on a subset of cases. Follow-up information was obtained from the submitting pathologists and clinicians. The Fisher exact test was used for statistical analysis. Patients (39 male, 31 female) ranged in age from 14 to 83 years (median 49 years). The tumors occurred primarily as subcutaneous or deeply seated masses in the trunk and proximal extremities and ranged from 1 to 14 cm (median 4.0 cm). The percentage of typical OFMT present in each case ranged from 0% to 100% (median 70%), and bone was present in 44 cases (63%). Mitotic activity ranged from 0 to 40 MF/50 HPF (median 2 MF/50 HPF), necrosis was present in 12 cases (17%), and vascular invasion was seen in 8 cases (11%). High cellularity or high nuclear grade was seen in 14 and 13 cases, respectively. Immunohistochemical results were as follows: S-100 protein (33 of 55, 60%), pancytokeratin (5 of 48, 10%), smooth muscle actin (2 of 44, 5%), desmin (5 of 39, 13%), and collagen II (1 of 26, 4%). Follow-up (51 cases, mean 54 months, median 36 months, range 5-151 months) showed local recurrences in nine patients and metastases in eight patients. Currently, 41 patients are disease free, 6 are alive with disease, 4 are dead of disease, and 1 died of other causes. The presence of high cellularity (p = 0.002), high nuclear grade (p = 0.001), or >2 MF/50 HPF (p = 0.004) were significantly associated with the development of metastatic disease and local recurrence. Infiltrative growth was also associated with increased risk of local recurrence (p = 0.03). We conclude that the histologic spectrum of OFMT is broader than previously appreciated, as many clinically benign cases display moderate cellularity, nuclear enlargement, or have identifiable mitotic figures. Our results strongly suggest that OFMT with 1) high nuclear grade or 2) high cellularity and mitotic activity of >2 MF/50 HPF should be regarded as sarcomas with significant potential for metastasis and untoward outcome ("malignant OFMT"). The remainder can be considered within the spectrum of OFMT, recognizing that even these lesions possess a risk, albeit very low, of metastasis. Consequently, OFMT should be considered tumors of intermediate malignancy. Their line of differentiation remains unclear, although we suggest they may belong to the category of translocation-associated sarcomas, not all of which recapitulate a normal line of differentiation.
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PMID:Ossifying fibromyxoid tumor of soft parts: a clinicopathologic study of 70 cases with emphasis on atypical and malignant variants. 1265 26

Most (up to 71%) of renal cell neoplasms occurring in patients with end-stage renal disease (ESRD), particularly with acquired cystic disease of the kidney (ACDK), have been reported to be papillary renal cell carcinoma (RCC). Our initial experience with tumors in such a setting indicated that many tumors were histologically difficult to classify into the known subtypes of RCC or had features that were different from those in sporadically occurring RCCs. In this study on 66 ESRD kidneys (52 of which showed features of ACDK) removed because tumors were detected in them, we found two major groups of RCC. Overall, there were 261 grossly identified tumors in these kidneys, and many additional tumors were observed on microscopic evaluation in some. Of the two major groups of RCCs, one consisted of tumors similar to those seen in sporadic settings (ie, clear-cell, papillary, and chromophobe RCC), and these formed the dominant mass in 12 (18%), 10 (15%), and 5 (8%) of the 66 kidneys, respectively. The other group consisted of two subtypes of RCC that appear quite unique to ESRD. The more common tumor that we have designated as "acquired cystic disease-associated RCC" was seen as the dominant mass in 24 (36%) of 66 of the kidneys, and it formed the most common tumor type among the smaller nondominant masses, as well. It was characterized by a typical microcystic architecture, eosinophilic cytoplasm with Fuhrman's grade 3 nuclei, and frequent association with intratumoral oxalate crystals. Additionally, these tumors frequently, but usually focally, exhibited papillary architecture, and clear cytoplasm. These tumors occurred only in kidneys with ACDK, and not in noncystic ESRD. The other category was "clear-cell papillary RCC of the end-stage kidneys," present as the dominant mass in 15 (23%) of the 66 kidneys and occurring in both the ACDK and noncystic ESRD. These predominantly cystic tumors showed prominent papillary architecture with purely clear-cell cytology. Immunohistochemical studies in tumors with histology similar to the known subtypes of sporadic RCC showed immunoprofiles similar to that reported in sporadically occurring tumors. The two subtypes of RCC unique to ESRD had distinctive immunoprofiles supporting their separate morphologic subcategorization. Only the acquired cystic disease-associated RCC showed lymph node metastases in 2 cases and sarcomatoid features in 2 more cases. One of the latter 2 died with widespread metastatic disease within 34 months of nephrectomy. Thus, a broad spectrum of renal cell tumors exist in ESRD, only some of which resemble the sporadic RCCs. Acquired cystic disease-associated RCC is the commonest tumor subtype in ESRD, and biologically it appears to be more aggressive than the other tumor subtypes in ESRD.
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PMID:Spectrum of epithelial neoplasms in end-stage renal disease: an experience from 66 tumor-bearing kidneys with emphasis on histologic patterns distinct from those in sporadic adult renal neoplasia. 1643 87


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