1,721,032 research outputs found
Gains of chromosomes 7, 17, 12, 16 and 20 and loss of Y occur early in the evolution of papillary renal cell neoplasia: a fluorescent in situ hybridization study
No full textEosinophilic and classic chromophobe renal cell carcinomas have similar frequent losses of multiple chromosomes from among chromosomes 1, 2, 6, 10 and 17 and this pattern of genetic abnormality is not present in renal oncocytoma
No full textThat chromophobe renal cell carcinoma has an uncommon eosinophilic variant has been recognized for more than a decade. In sections stained with hematoxylin and eosin, the eosinophilic variant of chromophobe renal cell carcinoma and renal oncocytoma are similar in appearance. While it is well established that chromophobe renal cell carcinoma and renal oncocytoma have different patterns of genetic anomalies, little is known of the genetics of the eosinophilic variant of chromophobe renal cell carcinoma. This study was undertaken to elucidate the genetic lesions of eosinophilic chromophobe renal cell carcinoma and to compare them with those found in classic chromophobe renal cell carcinoma and in renal oncocytoma. A total of 29 renal neoplasms--nine eosinophilic chromophobe renal cell carcinomas, 10 classic chromophobe renal cell carcinomas, and 10 oncocytomas--were investigated by fluorescence in situ hybridization on 5 microm paraffin-embedded tissue sections with centromeric probes for chromosomes 1, 2, 6, 10, and 17. Signals were counted in 100-200 neoplastic nuclei from each tumor. Chromophobe renal cell carcinomas frequently showed loss of chromosomes 1 (70% of classic, 67% of eosinophilic), 2 (90% classic, 56% eosinophilic), 6 (80% classic, 56% eosinophilic), 10 (60% classic, 44% eosinophilic), and 17 (90% classic, 78% eosinophilic); Among the classic chromophobe renal cell carcinomas, only one had no loss of any of the chromosomes, while 50% had loss of all five chromosomes. Among the eosinophilic chromophobe renal cell carcinomas, one of nine had no loss and 44% had loss of all five chromosomes. One oncocytoma had loss of chromosome 1. No other chromosomal loss was detected in the oncocytomas. In conclusion, losses of chromosomes 1, 2, 6, 10, and 17 are frequent in both eosinophilic and classic chromophobe renal cell carcinomas. Loss of chromosome 1 occurs occasionally in oncocytoma but losses of chromosomes 2, 6, 10, and 17 are not found in oncocytomas. When the differential diagnostic problem is oncocytoma vs eosinophilic chromophobe renal cell carcinoma, detection of losses of chromosomes 2, 6, 10, or 17 effectively excludes the diagnosis of oncocytoma and supports the diagnosis of chromophobe renal cell carcinoma
Renal mucinous tubular and spindle carcinoma lacks the gains of chromosomes 7 and 17 and losses of chromosome Y that are prevalent in papillary renal cell carcinoma
No full textMucinous tubular and spindle cell carcinoma of the kidney is an uncommon, distinctive neoplasm characterized by the proliferation of cuboidal and spindle cells arranged in tubular or sheet-like arrays, typically with a mucinous or myxoid background. The most important differential diagnostic consideration of mucinous tubular and spindle cell carcinoma is papillary renal cell carcinoma, type 1, with sarcomatoid transformation. The aim of our study is to investigate the pattern of possible gains or losses of chromosomes 7, 17 and Y in 10 mucinous tubular and spindle cell carcinomas with interphase fluorescence in situ hybridization (FISH). Four-micron sections were obtained from paraffin blocks representative of the tumors and including adjacent non-neoplastic renal parenchyma from 10 patients. The patients' ages ranged from 20 to 80 years (mean: 62 years); eight were female, while two were male. FISH analysis was performed with centromeric probes for chromosomes 7, 17 and Y. One hundred fifty to 200 nuclei from each case were scored for hybridization signals and non-neoplastic parenchyma served as control tissue. We found that renal mucinous tubular and spindle carcinoma lacks the gains of chromosomes 7 and 17 and losses of chromosome Y that are typical of papillary renal cell carcinoma. FISH analysis with centromeric probes for these chromosomes is potentially helpful in differentiating mucinous tubular and spindle cell carcinomas from papillary renal cell carcinomas
Acquired cystic disease-associated renal tumors: an immunohistochemical and fluorescence in situ hybridization study
No full textRenal mucinous tubular and spindle carcinoma lacks the gains of chromosomes 7 and 17 and losses of chromosome Y that are prevalent in papillary renal cell carcinoma
No full textInterphase cytogenetic analysis with centromeric probes for chromosomes 1, 2, 6, 10, and 17 in 11 tumors from a patient with bilateral renal oncocytosis
No full textRenal oncocytosis is characterized by the presence of multiple tumors with oncocytic features, often associated with small clusters of tubule-like structures with oncocytic change. The morphologic features of the oncocytic nodules encompass a spectrum of appearances, with patterns typical of renal oncocytoma or classic chromophobe renal cell carcinoma, as well as 'hybrid' tumors with features resembling both oncocytoma and chromophobe renal cell carcinoma. We utilized interphase cytogenetic methods to study 11 tumors from the kidneys of a 45-year-old woman. The tumors included morphologically classical oncocytomas and 'hybrid' tumors with features reminiscent of chromophobe carcinoma. The kidneys also showed foci of oncocytic change in renal tubules. Fluorescence in situ hybridization was performed with centromeric probes for chromosomes 1, 2, 6, 10, and 17 in each of the 11 tumors to determine whether or not there were losses of the chromosomes that are most frequently lost in chromophobe renal cell carcinomas. Neoplastic nuclei from each tumor were evaluated for the number of hybridization signals and scored according to the percentage of nuclei with one, two, and three or more signals. The normal renal parenchyma surrounding the tumors was used as control tissue. All 11 tumors from this patient with renal oncocytosis showed no loss of any of the chromosomes 1, 2, 6, 10, or 17, a pattern identical to that found in normal control tissues. These observations weigh against the concept that hybrid tumors of oncocytosis are closely related to chromophobe renal cell carcinoma
Cytokeratin and CD30 expression in dysgerminoma
No full textDysgerminoma is a malignant germ cell tumor of the ovary that shares morphological, immunophenotypic, and genetic features with its testicular counterpart, seminoma. Recent evidence supports the hypothesis that seminoma can differentiate into non-seminomatous germ cell tumor types. The progression of these tumors can be measured by their acquisition of the potential to express cytokeratin intermediate filaments, a characteristic specific to epithelial differentiation. Although testicular seminomas have been widely investigated, little is known about cytokeratin or E-cadherin expression in dysgerminomas. We investigated 26 formalin-fixed, paraffin-embedded ovarian dysgerminomas with immunohistochemical stains for CAM5.2, AE1/AE3, epithelial membrane antigen, cytokeratin 7, cytokeratin 20, high-molecular-weight keratin, and E-cadherin. In addition, we investigated the CD30 and vimentin immunoreactivity of these tumors. Immunoreactivity for CAM5.2 and for AE1/AE3 was present in more than 10% of neoplastic cells in 5 (19.2%) of 26 cases and in 2 (7.7%) of 26 cases, respectively. Cytokeratin 7 showed only focal positivity and never showed positive staining in greater than 10% of dysgerminoma cells. E-cadherin staining was positive in 2 cases showing weak membranous immunostaining in more than 10% of cells. Vimentin immunoreactivity was observed in only 2 dysgerminomas, both of which had less than 10% of the neoplastic cells staining. Cytokeratin 20, epithelial membrane antigen, high-molecular-weight keratin, and CD30 were consistently negative in all cases. Our study demonstrates that cytokeratin expression in dysgerminomas is not unusual and is consistent with the hypothesis that dysgerminomas have the capacity to differentiate along epithelial lines. Furthermore, the immunohistochemical staining patterns for cytokeratins, E-cadherin, and CD30 in dysgerminomas need to be considered when assessing differential diagnoses in difficult cases of primary ovarian tumors
Cathepsin K expression in the spectrum of perivascular epithelioid cell (PEC) lesions of the kidney
No full textThe perivascular epithelioid cell (PEC) is a unique cell type coexpressing contractile proteins (mainly alpha-smooth muscle actin), melanocytic markers, including microphthalmia-associated transcription factor (MITF), and estrogen and progesterone receptors. It is constantly present in a group of tumors called PEComas. Renal PEComas include the common angiomyolipoma as well as less common lesions such as microscopic angiomyolipoma, intraglomerular lesions, angiomyolipoma with epithelial cysts, epithelioid angiomyolipoma, oncocytoma-like angiomyolipoma and lymphangioleiomyomatosis of the renal sinus. It has been demonstrated that most of these lesions are determined by mutations affecting genes of the tuberous sclerosis complex, tuberous sclerosis 1 (TSC1) and tuberous sclerosis 2 (TSC2), with eventual deregulation of the RHEB/MTOR/RPS6KB2 pathway, and it has been observed that some PEComas regressed during sirolimus therapy, an MTOR inhibitor. Recently, overexpression of MITF has been related to the expression of the papain-like cysteine protease cathepsin K in osteoclasts where it has inhibited MTOR. The aim of this study is to evaluate cathepsin K immunohistochemically in the entire spectrum of PEComa lesions in the kidney. The study population consisted of 84 renal PEComa lesions, including 5 composed predominantly of fat (lipoma-like angiomyolipoma), 15 almost exclusively composed of spindle-shaped smooth muscle cells (leiomyoma-like angiomyolipoma) and 31 common angiomyolipomas composed of a mixture of fat, spindle and epithelioid smooth muscle cells, and abnormal thick-walled blood vessels, 15 microscopic angiomyolipomas, 5 intraglomerular lesions, 2 oncocytoma-like angiomyolipomas, 8 epithelioid angiomyolipomas, 2 angiomyolipomas with epithelial cysts and 1 example of lymphangioleiomyomatosis of the renal sinus. In all of the renal PEComas, cathepsin K was found to be constantly and strongly expressed and seems to be a more powerful marker than other commonly used markers for their identification, especially to confirm the diagnosis on needle biopsies. Modern Pathology (2012) 25, 100-111; doi:10.1038/modpathol.2011.136; published online 26 August 2011The perivascular epithelioid cell (PEC) is a unique cell type coexpressing contractile proteins (mainly α-smooth muscle actin), melanocytic markers, including microphthalmia-associated transcription factor (MITF), and estrogen and progesterone receptors. It is constantly present in a group of tumors called PEComas. Renal PEComas include the common angiomyolipoma as well as less common lesions such as microscopic angiomyolipoma, intraglomerular lesions, angiomyolipoma with epithelial cysts, epithelioid angiomyolipoma, oncocytoma-like angiomyolipoma and lymphangioleiomyomatosis of the renal sinus. It has been demonstrated that most of these lesions are determined by mutations affecting genes of the tuberous sclerosis complex, tuberous sclerosis 1 (TSC1) and tuberous sclerosis 2 (TSC2), with eventual deregulation of the RHEB/MTOR/RPS6KB2 pathway, and it has been observed that some PEComas regressed during sirolimus therapy, an MTOR inhibitor. Recently, overexpression of MITF has been related to the expression of the papain-like cysteine protease cathepsin K in osteoclasts where it has inhibited MTOR. The aim of this study is to evaluate cathepsin K immunohistochemically in the entire spectrum of PEComa lesions in the kidney. The study population consisted of 84 renal PEComa lesions, including 5 composed predominantly of fat (lipoma-like angiomyolipoma), 15 almost exclusively composed of spindle-shaped smooth muscle cells (leiomyoma-like angiomyolipoma) and 31 common angiomyolipomas composed of a mixture of fat, spindle and epithelioid smooth muscle cells, and abnormal thick-walled blood vessels, 15 microscopic angiomyolipomas, 5 intraglomerular lesions, 2 oncocytoma-like angiomyolipomas, 8 epithelioid angiomyolipomas, 2 angiomyolipomas with epithelial cysts and 1 example of lymphangioleiomyomatosis of the renal sinus. In all of the renal PEComas, cathepsin K was found to be constantly and strongly expressed and seems to be a more powerful marker than other commonly used markers for their identification, especially to confirm the diagnosis on needle biopsies. © 2012 USCAP, Inc. All rights reserved
Carcinomi a cellule renali di tipo cromofobo con trasformazione sarcomatoide: analisi immunoistochimica,
No full textFluorescence in situ hybridization analysis of chromosome 12p in paraffin-embedded tissue is useful for establishing germ cell origin of metastatic tumors
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